Variant report

Variant	nsv1030437
Chromosome Location	chr5:179235423-179649944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9997)
CpG islands
(count:11799)
Chromatin interactive
region (count:563)
LncRNA
region (count:37)
Mature miRNA
region (count: 2)
miRNA target
sites (count:3)

(count:9997 , 50 per page) page: 1 2 3 4 5 6 7 ... 200

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179518291-179518502	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179285339-179285613	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:179252970-179253183	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179532883-179533523	K562	blood:	n/a	n/a
5	ARID3A	chr5:179430305-179430423	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:179251573-179251948	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:179402321-179402509	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:179628552-179628562	K562	blood:	n/a	n/a
9	ARID3A	chr5:179387205-179387776	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:179246045-179246245	K562	blood:	n/a	n/a
11	ARID3A	chr5:179247865-179248166	K562	blood:	n/a	n/a
12	ARID3A	chr5:179498996-179499345	HepG2	liver:	n/a	n/a
13	ARID3A	chr5:179248732-179249164	HepG2	liver:	n/a	n/a
14	ARID3A	chr5:179413437-179413637	K562	blood:	n/a	n/a
15	ARID3A	chr5:179508613-179508933	HepG2	liver:	n/a	n/a
16	ARID3A	chr5:179247261-179247994	HepG2	liver:	n/a	n/a
17	ARID3A	chr5:179238431-179238489	K562	blood:	n/a	n/a
18	ARID3A	chr5:179285861-179286163	HepG2	liver:	n/a	n/a
19	ARID3A	chr5:179245825-179246612	HepG2	liver:	n/a	n/a
20	ARID3A	chr5:179394416-179394766	HepG2	liver:	n/a	n/a
21	ARID3A	chr5:179235335-179235623	HepG2	liver:	n/a	n/a
22	ARID3A	chr5:179476123-179476598	K562	blood:	n/a	n/a
23	ARID3A	chr5:179238472-179238657	HepG2	liver:	n/a	n/a
24	ARID3A	chr5:179518227-179518396	K562	blood:	n/a	n/a
25	ARID3A	chr5:179498986-179499018	K562	blood:	n/a	n/a
26	ARID3A	chr5:179264010-179264021	K562	blood:	n/a	n/a
27	ARID3A	chr5:179434600-179434944	K562	blood:	n/a	n/a
28	ARID3A	chr5:179520618-179521053	K562	blood:	n/a	n/a
29	ARID3A	chr5:179285784-179286195	K562	blood:	n/a	n/a
30	ATF1	chr5:179520610-179521209	K562	blood:	n/a	n/a
31	ATF1	chr5:179433792-179434062	K562	blood:	n/a	n/a
32	ATF1	chr5:179530545-179530918	K562	blood:	n/a	n/a
33	ATF1	chr5:179434685-179435000	K562	blood:	n/a	n/a
34	ATF1	chr5:179437846-179438006	K562	blood:	n/a	n/a
35	ATF1	chr5:179245838-179246287	K562	blood:	n/a	n/a
36	ATF1	chr5:179511956-179512530	K562	blood:	n/a	n/a
37	ATF1	chr5:179532797-179533397	K562	blood:	n/a	n/a
38	ATF1	chr5:179512834-179513185	K562	blood:	n/a	n/a
39	ATF1	chr5:179601223-179601365	K562	blood:	n/a	n/a
40	ATF1	chr5:179453358-179453952	K562	blood:	n/a	n/a
41	ATF1	chr5:179413300-179413635	K562	blood:	n/a	n/a
42	ATF1	chr5:179341125-179341473	K562	blood:	n/a	n/a
43	ATF1	chr5:179350505-179350738	K562	blood:	n/a	n/a
44	ATF2	chr5:179512734-179513198	H1-hESC	embryonic stem cell:	n/a	chr5:179513004-179513015
45	ATF2	chr5:179512720-179513239	H1-hESC	embryonic stem cell:	n/a	chr5:179513004-179513015
46	ATF2	chr5:179245811-179246235	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF2	chr5:179248603-179248981	H1-hESC	embryonic stem cell:	n/a	n/a
48	ATF2	chr5:179285319-179285629	GM12878	blood:	n/a	n/a
49	ATF2	chr5:179285769-179286228	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF2	chr5:179516869-179517770	H1-hESC	embryonic stem cell:	n/a	n/a

(count:11799 , 50 per page) page: 1 2 3 4 5 6 7 ... 236

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179562118-179562168	SK-N-SH	brain:	n/a
2	chr5:179334739-179334789	Caco-2	colon:	n/a
3	chr5:179246594-179246644	RPTEC	kidney:	n/a
4	chr5:179643456-179643506	MCF-7	breast:	n/a
5	chr5:179563738-179563788	SK-N-MC	brain:	n/a
6	chr5:179247603-179247653	HCM	heart:	n/a
7	chr5:179297440-179297490	PrEC	prostate:	n/a
8	chr5:179448992-179449042	HCT-116	colon:	n/a
9	chr5:179306345-179306395	PFSK-1	brain:	n/a
10	chr5:179247990-179248040	Jurkat	blood:	n/a
11	chr5:179454990-179455040	Jurkat	blood:	n/a
12	chr5:179598884-179598934	AG10803	skin:	n/a
13	chr5:179275718-179275768	GM06990	blood:	n/a
14	chr5:179621242-179621292	BJ	skin:	n/a
15	chr5:179588551-179588601	HIPEpiC	eye:	n/a
16	chr5:179563745-179563795	HAEpiC	amniotic membrane:	n/a
17	chr5:179588673-179588723	NH-A	brain:	n/a
18	chr5:179373290-179373340	HCF	heart:	n/a
19	chr5:179635981-179636031	BJ	skin:	n/a
20	chr5:179285952-179286002	SK-N-SH_RA	brain:	n/a
21	chr5:179239690-179239740	Hepatocyte	liver:	n/a
22	chr5:179330491-179330541	HAEpiC	amniotic membrane:	n/a
23	chr5:179308555-179308605	CMK	blood:	n/a
24	chr5:179334739-179334789	GM06990	blood:	n/a
25	chr5:179393917-179393967	LNCaP	prostate:	n/a
26	chr5:179443379-179443429	AG04449	skin:	fetal
27	chr5:179562118-179562168	SK-N-SH	brain:	n/a
28	chr5:179334739-179334789	Caco-2	colon:	n/a
29	chr5:179246594-179246644	RPTEC	kidney:	n/a
30	chr5:179643456-179643506	MCF-7	breast:	n/a
31	chr5:179563738-179563788	SK-N-MC	brain:	n/a
32	chr5:179247603-179247653	HCM	heart:	n/a
33	chr5:179297440-179297490	PrEC	prostate:	n/a
34	chr5:179448992-179449042	HCT-116	colon:	n/a
35	chr5:179306345-179306395	PFSK-1	brain:	n/a
36	chr5:179247990-179248040	Jurkat	blood:	n/a
37	chr5:179454990-179455040	Jurkat	blood:	n/a
38	chr5:179598884-179598934	AG10803	skin:	n/a
39	chr5:179275718-179275768	GM06990	blood:	n/a
40	chr5:179621242-179621292	BJ	skin:	n/a
41	chr5:179588551-179588601	HIPEpiC	eye:	n/a
42	chr5:179563745-179563795	HAEpiC	amniotic membrane:	n/a
43	chr5:179588673-179588723	NH-A	brain:	n/a
44	chr5:179373290-179373340	HCF	heart:	n/a
45	chr5:179635981-179636031	BJ	skin:	n/a
46	chr5:179285952-179286002	SK-N-SH_RA	brain:	n/a
47	chr5:179239690-179239740	Hepatocyte	liver:	n/a
48	chr5:179330491-179330541	HAEpiC	amniotic membrane:	n/a
49	chr5:179308555-179308605	CMK	blood:	n/a
50	chr5:179334739-179334789	GM06990	blood:	n/a

(count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Distal block	Cell Line	Cell type
1	chr5:179293404..179294329-chr5:179334551..179335058,2	MCF-7	breast:
2	chr5:179446297..179447924-chr5:179497601..179500214,2	MCF-7	breast:
3	chr5:179551435..179553864-chr5:179559199..179562159,2	K562	blood:
4	chr5:179334236..179335161-chr6:31587804..31588782,2	Hela-S3	cervix:
5	chr5:179288966..179290772-chr5:179295721..179297520,3	MCF-7	breast:
6	chr5:179504852..179507239-chr5:179509991..179511932,2	MCF-7	breast:
7	chr5:179517772..179520759-chr5:179536622..179539248,2	MCF-7	breast:
8	chr5:179387216..179389943-chr5:179396226..179399664,3	MCF-7	breast:
9	chr5:179477454..179480172-chr5:179480653..179484113,3	MCF-7	breast:
10	chr5:179308524..179311732-chr5:179312804..179315984,3	K562	blood:
11	chr5:179553781..179554858-chr5:179635686..179636541,5	MCF-7	breast:
12	chr14:24572871..24573418-chr5:179321477..179322120,2	NB4	blood:
13	chr5:179542665..179545616-chr5:179718276..179721972,3	MCF-7	breast:
14	chr5:179474524..179477374-chr5:179479073..179481485,2	MCF-7	breast:
15	chr5:179544196..179547081-chr5:179550763..179552798,2	MCF-7	breast:
16	chr5:179505484..179507567-chr5:179509835..179511460,2	MCF-7	breast:
17	chr5:179230087..179232097-chr5:179290171..179292438,2	K562	blood:
18	chr5:179124533..179126912-chr5:179247842..179250922,3	K562	blood:
19	chr5:179409014..179411670-chr5:179414218..179416406,2	MCF-7	breast:
20	chr5:179246365..179250489-chr5:179281961..179288216,8	MCF-7	breast:
21	chr5:179249875..179252190-chr5:179321667..179324524,2	K562	blood:
22	chr5:179466250..179468313-chr5:179480534..179483405,2	MCF-7	breast:
23	chr5:179245622..179247689-chr5:179288276..179289796,2	MCF-7	breast:
24	chr5:179523738..179525811-chr5:179544274..179545923,2	MCF-7	breast:
25	chr5:179426841..179429316-chr5:179431530..179434128,2	MCF-7	breast:
26	chr5:179320875..179323234-chr5:179323469..179326347,2	MCF-7	breast:
27	chr5:179635182..179638136-chr5:179641642..179644224,2	K562	blood:
28	chr5:179158599..179160410-chr5:179253473..179255344,2	K562	blood:
29	chr5:179185963..179187544-chr5:179278623..179281522,2	K562	blood:
30	chr5:179518292..179520917-chr5:179894256..179896399,2	MCF-7	breast:
31	chr5:179248037..179250293-chr5:179297490..179300093,2	K562	blood:
32	chr5:179385954..179387871-chr5:179389769..179391288,2	K562	blood:
33	chr5:179390256..179392099-chr5:179393364..179396130,2	K562	blood:
34	chr5:179452184..179453736-chr5:179495746..179497610,2	MCF-7	breast:
35	chr5:179285116..179287409-chr5:179295017..179296656,2	MCF-7	breast:
36	chr5:179422578..179425329-chr5:179432316..179434971,2	K562	blood:
37	chr5:179448140..179451740-chr5:179497832..179501110,4	MCF-7	breast:
38	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
39	chr5:179433452..179435526-chr5:179437325..179440578,3	K562	blood:
40	chr5:179293404..179294329-chr5:179334551..179335058,2	MCF-7	breast:
41	chr5:179245622..179247689-chr5:179288276..179289796,2	MCF-7	breast:
42	chr5:179297336..179298161-chr5:179635822..179636672,3	K562	blood:
43	chr5:179449447..179452812-chr5:179452843..179455621,3	K562	blood:
44	chr5:179280059..179282824-chr5:179286151..179287699,2	K562	blood:
45	chr5:179551435..179553864-chr5:179559199..179562159,2	K562	blood:
46	chr5:179628568..179631712-chr5:179635028..179639037,3	K562	blood:
47	chr5:179279889..179282788-chr5:179478192..179480009,2	K562	blood:
48	chr5:179435243..179436758-chr5:179452020..179454340,2	K562	blood:
49	chr5:179517603..179519826-chr5:179526905..179528736,2	K562	blood:
50	chr5:179466250..179468313-chr5:179480534..179483405,2	MCF-7	breast:

(count:37 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105629
2	lnc-LTC4S-2	chr5:179238988-179240641	NONHSAT105631
3	lnc-TBC1D9B-1	chr5:179264274-179264879	NONHSAT105640
4	lnc-CTC-241N9.1.1-1	chr5:179390615-179390732	ENSG00000249412.1
5	lnc-TBC1D9B-1	chr5:179267590-179267959	NONHSAT105643
6	lnc-TBC1D9B-4	chr5:179383045-179383516	NONHSAT105661
7	lnc-TBC1D9B-1	chr5:179280283-179280437	NONHSAT105649
8	lnc-RNF130-3	chr5:179505357-179508661	NONHSAT105668
9	lnc-TBC1D9B-1	chr5:179264760-179265255	NONHSAT105639
10	lnc-SQSTM1-1	chr5:179272832-179273152	NONHSAT105645
11	lnc-C5orf45-2	chr5:179299416-179299990	NONHSAT105653
12	lnc-C5orf45-2	chr5:179300119-179300135	NONHSAT105653
13	lnc-C5orf45-1	chr5:179295058-179296834	NONHSAT105652
14	lnc-RNF130-2	chr5:179345233-179345714	NONHSAT105656
15	lnc-RNF130-2	chr5:179341389-179342210	NONHSAT105656
16	lnc-CTC-241N9.1.1-1	chr5:179390969-179391419	ENSG00000249412.1
17	lnc-TBC1D9B-1	chr5:179288961-179289173	NONHSAT105649
18	lnc-TBC1D9B-1	chr5:179268907-179269064	NONHSAT105643
19	lnc-TBC1D9B-1	chr5:179268458-179269064	NONHSAT105644
20	lnc-TBC1D9B-1	chr5:179271152-179271221	NONHSAT105640
21	lnc-TBC1D9B-1	chr5:179287514-179287707	NONHSAT105649
22	lnc-TBC1D9B-1	chr5:179269000-179269064	NONHSAT105640
23	lnc-RNF130-1	chr5:179345911-179347229	NONHSAT105657
24	lnc-C5orf45-1	chr5:179297255-179297408	NONHSAT105652
25	lnc-TBC1D9B-1	chr5:179271152-179271220	NONHSAT105644
26	lnc-TBC1D9B-2	chr5:179360805-179361196	NONHSAT105658
27	lnc-TBC1D9B-1	chr5:179271152-179271325	NONHSAT105643
28	lnc-TBC1D9B-3	chr5:179366457-179367132	NONHSAT105659
29	lnc-LTC4S-2	chr5:179238615-179238682	NONHSAT105631
30	lnc-LTC4S-2	chr5:179234324-179235427	NONHSAT105630
31	lnc-TBC1D9B-1	chr5:179268269-179268370	NONHSAT105644
32	lnc-TBC1D9B-4	chr5:179382480-179382669	NONHSAT105661
33	lnc-RASGEF1C-1	chr5:179639411-179639638	expReg_chr5_10974_-
34	lnc-LTC4S-2	chr5:179239407-179240598	NONHSAT105630
35	lnc-TBC1D9B-1	chr5:179264143-179264204	NONHSAT105639
36	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105630
37	lnc-LTC4S-2	chr5:179239407-179240024	NONHSAT105629

miRNA name	Chromosome Location	mirBase accession
hsa-miR-340-5p	chr5:179442361-179442382	MIMAT0004692
hsa-miR-340-3p	chr5:179442319-179442340	MIMAT0000750

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RNF130	hsa-miR-320a	chr5:179382510-179382531
2	TBC1D9B	hsa-miR-92a-3p	chr5:179289723-179289744
3	SQSTM1	hsa-miR-7-5p	chr5:179264392-179264416

Variant related genes	Relation type
RPS15AP18	TF binding region
SQSTM1	TF binding region
RASGEF1C	TF binding region
MGAT4B	TF binding region
ENSG00000253480	TF binding region
ENSG00000252202	TF binding region
ENSG00000245317	TF binding region
C5orf45	TF binding region
TBC1D9B	TF binding region
ENSG00000249412	TF binding region
RN7SKP150	TF binding region
RNF130	TF binding region
ENSG00000249876	TF binding region
MIR340	TF binding region
RPS15AP18	CpG island
SQSTM1	CpG island
RASGEF1C	CpG island
MGAT4B	CpG island
ENSG00000253480	CpG island
ENSG00000252202	CpG island
ENSG00000245317	CpG island
C5orf45	CpG island
TBC1D9B	CpG island
ENSG00000249412	CpG island
RN7SKP150	CpG island
RNF130	CpG island
ENSG00000249876	CpG island
MIR340	CpG island
ENSG00000221394	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000124802	chromatin interactions
ENSG00000255242	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000222448	chromatin interactions
ENSG00000155506	chromatin interactions
ENSG00000118263	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000259088	chromatin interactions
ENSG00000100316	chromatin interactions
ENSG00000242979	chromatin interactions
ENSG00000146090	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000239705	chromatin interactions
ENSG00000204469	chromatin interactions
ENSG00000196950	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000252958	chromatin interactions
ENSG00000235852	chromatin interactions
ENSG00000078304	chromatin interactions
ENSG00000167965	chromatin interactions
ENSG00000265818	chromatin interactions
ENSG00000253480	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000252202	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000198995	chromatin interactions
ENSG00000170468	chromatin interactions
ENSG00000130816	chromatin interactions
ENSG00000249876	chromatin interactions
ENSG00000229721	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000176542	chromatin interactions
ENSG00000257696	chromatin interactions
ENSG00000213316	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000168175	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000249412	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000111647	chromatin interactions
CREBZF	Mature miRNA region
ZNF35	Mature miRNA region
QSOX2	Mature miRNA region
ASF1A	Mature miRNA region
SERTAD2	Mature miRNA region
MCMBP	Mature miRNA region
RAB5B	Mature miRNA region
ANKRD29	Mature miRNA region
BIVM	Mature miRNA region
SOX4	Mature miRNA region
CD46	Mature miRNA region
SKI	Mature miRNA region
CYP1B1	Mature miRNA region
CTTN	Mature miRNA region
MESDC1	Mature miRNA region
RIT1	Mature miRNA region
DCTN5	Mature miRNA region
MPHOSPH9	Mature miRNA region
LMNA	Mature miRNA region
SZRD1	Mature miRNA region
ARHGAP12	Mature miRNA region
TMEM138	Mature miRNA region
CSDE1	Mature miRNA region
RNF11	Mature miRNA region
CCBL2	Mature miRNA region
SIVA1	Mature miRNA region
SAMD12	Mature miRNA region
KLF10	Mature miRNA region
TUBB3	Mature miRNA region
LYSMD3	Mature miRNA region
SMC3	Mature miRNA region
BCL2L11	Mature miRNA region
HSDL1	Mature miRNA region
NUFIP2	Mature miRNA region
ANKRD40	Mature miRNA region
ELAVL1	Mature miRNA region
KIAA1586	Mature miRNA region
ZFHX3	Mature miRNA region
RBM8A	Mature miRNA region
BTG3	Mature miRNA region
C1orf43	Mature miRNA region
ZNF83	Mature miRNA region
PIM3	Mature miRNA region
NEK7	Mature miRNA region
SLC7A11	Mature miRNA region
GK5	Mature miRNA region
PELI1	Mature miRNA region
AMOT	Mature miRNA region
KCNK1	Mature miRNA region
CHMP4B	Mature miRNA region
CDC23	Mature miRNA region
SOWAHC	Mature miRNA region
YIPF2	Mature miRNA region
BCL11A	Mature miRNA region
PDE4D	Mature miRNA region
MRPL12	Mature miRNA region
KRT15	Mature miRNA region
FBXL3	Mature miRNA region
LEPR	Mature miRNA region
ANKRD9	Mature miRNA region
GPX8	Mature miRNA region
PPP1R14C	Mature miRNA region
DEPDC1	Mature miRNA region
SCML2	Mature miRNA region
GALNT3	Mature miRNA region
MINPP1	Mature miRNA region
EEF1A1	Mature miRNA region
TXLNG	Mature miRNA region
ID4	Mature miRNA region
BBS10	Mature miRNA region
SLC16A14	Mature miRNA region
HECTD2	Mature miRNA region
NKRF	Mature miRNA region
REV3L	Mature miRNA region
MYLIP	Mature miRNA region
LIMS1	Mature miRNA region
OSBPL1A	Mature miRNA region
KIF11	Mature miRNA region
TMEM245	Mature miRNA region
ZFYVE26	Mature miRNA region
LBR	Mature miRNA region
ECH1	Mature miRNA region
PPP2CA	Mature miRNA region
KDELC2	Mature miRNA region
ZIC5	Mature miRNA region
UBE2Z	Mature miRNA region
GGCT	Mature miRNA region
TNFRSF10B	Mature miRNA region
BPGM	Mature miRNA region
SYPL1	Mature miRNA region
CAPRIN2	Mature miRNA region
ATP1A1	Mature miRNA region
C1orf198	Mature miRNA region
ATXN1	Mature miRNA region
BTBD10	Mature miRNA region
GID8	Mature miRNA region
HOXA9	Mature miRNA region
KLHL42	Mature miRNA region
EFHD2	Mature miRNA region
MET	Mature miRNA region
MGST2	Mature miRNA region
YWHAZ	Mature miRNA region
HYPK	Mature miRNA region
NUP50	Mature miRNA region
SLC39A7	Mature miRNA region
PTPDC1	Mature miRNA region
SLC35G1	Mature miRNA region
KCTD20	Mature miRNA region
ITPR1	Mature miRNA region
SLX4	Mature miRNA region
BCL10	Mature miRNA region
TES	Mature miRNA region
TLX1	Mature miRNA region
CRY2	Mature miRNA region
ACIN1	Mature miRNA region
ZNF107	Mature miRNA region
SPIN4	Mature miRNA region
EP400	Mature miRNA region
OTUD1	Mature miRNA region
DDX5	Mature miRNA region
RFWD3	Mature miRNA region
SHCBP1	Mature miRNA region
LRPPRC	Mature miRNA region
ZNF776	Mature miRNA region
ACSL3	Mature miRNA region
HOXA5	Mature miRNA region
FBXO21	Mature miRNA region
KAT6B	Mature miRNA region
ZCCHC2	Mature miRNA region
APPL1	Mature miRNA region
NET1	Mature miRNA region
PLAG1	Mature miRNA region
LPCAT1	Mature miRNA region
EIF3L	Mature miRNA region

Extended variants
information (count: 17641 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:17641 , 50 per page) page: 1 2 3 4 5 6 7 ... 353

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148066959	chr5:179235450-179235451	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs182403629	chr5:179235532-179235533	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs547850833	chr5:179235536-179235537	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs186784103	chr5:179235539-179235540	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs533526822	chr5:179235544-179235545	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs551794463	chr5:179235545-179235546	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs59108011	chr5:179235546-179235547	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538926493	chr5:179235567-179235568	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs557652198	chr5:179235584-179235585	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs575723188	chr5:179235606-179235607	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs536878714	chr5:179235613-179235614	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs555085685	chr5:179235618-179235619	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs111600105	chr5:179235644-179235645	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs540629170	chr5:179235645-179235646	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs558944248	chr5:179235659-179235660	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs77566220	chr5:179235673-179235674	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs76839019	chr5:179235674-179235675	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs77507884	chr5:179235681-179235682	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs74622685	chr5:179235689-179235690	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs113784683	chr5:179235704-179235705	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs544142479	chr5:179235777-179235778	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs562822094	chr5:179235786-179235787	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs529826230	chr5:179235791-179235792	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs188742039	chr5:179235794-179235795	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs528695005	chr5:179235816-179235817	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs113214299	chr5:179235864-179235865	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs111808723	chr5:179235880-179235881	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs192221573	chr5:179235959-179235960	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs375877636	chr5:179235983-179235984	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192832135	chr5:179236018-179236019	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551868043	chr5:179236039-179236040	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570320606	chr5:179236092-179236093	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531359966	chr5:179236151-179236152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148749058	chr5:179236156-179236157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34250449	chr5:179236179-179236180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550971360	chr5:179236197-179236198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185215109	chr5:179236232-179236233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536831820	chr5:179236313-179236314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7379685	chr5:179236326-179236327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs71001049	chr5:179236354-179236355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13166248	chr5:179236357-179236358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13186845	chr5:179236371-179236372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567529495	chr5:179236375-179236376	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111349365	chr5:179236376-179236377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs13166273	chr5:179236399-179236400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs536532963	chr5:179236477-179236478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138444893	chr5:179236481-179236482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188646159	chr5:179236558-179236559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150160593	chr5:179236572-179236573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs34814332	chr5:179236676-179236677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute myeloid leukemia	20962326	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:11513 , 50 per page) page: 1 2 3 4 5 6 7 ... 231

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179232800-179235600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:179233400-179244400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:179234400-179235600	Enhancers	Stomach Mucosa	stomach
4	chr5:179234400-179243800	Weak transcription	Aorta	Aorta
5	chr5:179234600-179235800	Enhancers	Primary B cells from cord blood	blood
6	chr5:179234600-179236600	Weak transcription	Small Intestine	intestine
7	chr5:179234600-179238000	Weak transcription	Fetal Stomach	stomach
8	chr5:179234600-179238200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:179234600-179238400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:179234600-179238400	Weak transcription	K562	blood
11	chr5:179234600-179239000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:179234600-179239200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:179234600-179239200	Weak transcription	Brain Anterior Caudate	brain
14	chr5:179234600-179239200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:179234600-179239200	Weak transcription	Ovary	ovary
16	chr5:179234600-179239200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:179234600-179239200	Weak transcription	NHLF	lung
18	chr5:179234600-179239400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:179234600-179239400	Weak transcription	Primary T cells from cord blood	blood
20	chr5:179234600-179241000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:179234600-179241000	Weak transcription	Fetal Lung	lung
22	chr5:179234600-179241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:179234600-179242800	Weak transcription	Esophagus	oesophagus
24	chr5:179234600-179242800	Weak transcription	Gastric	stomach
25	chr5:179234600-179243600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:179234600-179243600	Weak transcription	Brain Substantia Nigra	brain
27	chr5:179234600-179243600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:179234600-179243800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:179234600-179244000	Weak transcription	NHDF-Ad	bronchial
30	chr5:179234600-179244200	Weak transcription	NHEK	skin
31	chr5:179234600-179245200	Weak transcription	HSMMtube	muscle
32	chr5:179234600-179245800	Weak transcription	Fetal Kidney	kidney
33	chr5:179234800-179235600	Enhancers	Fetal Brain Male	brain
34	chr5:179234800-179235600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:179234800-179235600	Flanking Active TSS	Hela-S3	cervix
36	chr5:179234800-179237800	Weak transcription	Fetal Thymus	thymus
37	chr5:179234800-179238600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:179234800-179238600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:179234800-179238600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:179234800-179239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:179234800-179239000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:179234800-179239200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:179234800-179239200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:179234800-179239400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:179234800-179239400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:179234800-179243600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:179234800-179243600	Weak transcription	Brain Angular Gyrus	brain
48	chr5:179234800-179243600	Weak transcription	Osteobl	bone
49	chr5:179235000-179235600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr5:179235000-179239200	Weak transcription	Stomach Smooth Muscle	stomach

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