Variant report

Variant	nsv830561
Chromosome Location	chr5:179365637-179537012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2477)
CpG islands
(count:2686)
Chromatin interactive
region (count:200)
LncRNA
region (count:6)
Mature miRNA
region (count: 2)
miRNA target
sites (count:1)

(count:2477 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179402321-179402509	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179476123-179476598	K562	blood:	n/a	n/a
3	ARID3A	chr5:179394416-179394766	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179498996-179499345	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:179413437-179413637	K562	blood:	n/a	n/a
6	ARID3A	chr5:179520618-179521053	K562	blood:	n/a	n/a
7	ARID3A	chr5:179518291-179518502	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:179430305-179430423	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:179498986-179499018	K562	blood:	n/a	n/a
10	ARID3A	chr5:179508613-179508933	HepG2	liver:	n/a	n/a
11	ARID3A	chr5:179387205-179387776	HepG2	liver:	n/a	n/a
12	ARID3A	chr5:179532883-179533523	K562	blood:	n/a	n/a
13	ARID3A	chr5:179434600-179434944	K562	blood:	n/a	n/a
14	ARID3A	chr5:179518227-179518396	K562	blood:	n/a	n/a
15	ATF1	chr5:179433792-179434062	K562	blood:	n/a	n/a
16	ATF1	chr5:179413300-179413635	K562	blood:	n/a	n/a
17	ATF1	chr5:179512834-179513185	K562	blood:	n/a	n/a
18	ATF1	chr5:179437846-179438006	K562	blood:	n/a	n/a
19	ATF1	chr5:179520610-179521209	K562	blood:	n/a	n/a
20	ATF1	chr5:179530545-179530918	K562	blood:	n/a	n/a
21	ATF1	chr5:179511956-179512530	K562	blood:	n/a	n/a
22	ATF1	chr5:179453358-179453952	K562	blood:	n/a	n/a
23	ATF1	chr5:179532797-179533397	K562	blood:	n/a	n/a
24	ATF1	chr5:179434685-179435000	K562	blood:	n/a	n/a
25	ATF2	chr5:179512179-179512602	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr5:179512720-179513239	H1-hESC	embryonic stem cell:	n/a	chr5:179513004-179513015
27	ATF2	chr5:179516869-179517770	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr5:179512734-179513198	H1-hESC	embryonic stem cell:	n/a	chr5:179513004-179513015
29	ATF3	chr5:179498875-179499483	A549	lung:	n/a	chr5:179499439-179499452
30	ATF3	chr5:179530567-179530823	K562	blood:	n/a	n/a
31	ATF3	chr5:179453417-179453717	K562	blood:	n/a	chr5:179453537-179453547 chr5:179453537-179453550 chr5:179453540-179453550 chr5:179453540-179453547 chr5:179453537-179453548 chr5:179453539-179453547 chr5:179453536-179453551 chr5:179453540-179453550 chr5:179453540-179453548
32	ATF3	chr5:179520547-179520980	K562	blood:	n/a	n/a
33	ATF3	chr5:179532800-179533178	K562	blood:	n/a	n/a
34	BACH1	chr5:179497993-179498316	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr5:179517087-179517747	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr5:179498846-179499457	H1-hESC	embryonic stem cell:	n/a	n/a
37	BATF	chr5:179389312-179389579	GM12878	blood:	n/a	n/a
38	BCL3	chr5:179499074-179499556	A549	lung:	n/a	chr5:179499248-179499261 chr5:179499223-179499236 chr5:179499252-179499265
39	BCL3	chr5:179389978-179390226	GM12878	blood:	n/a	n/a
40	BCLAF1	chr5:179498940-179499483	K562	blood:	n/a	chr5:179499248-179499261 chr5:179499034-179499043 chr5:179499223-179499236 chr5:179499252-179499265
41	BHLHE40	chr5:179520600-179521206	K562	blood:	n/a	n/a
42	BHLHE40	chr5:179498122-179499358	HepG2	liver:	n/a	chr5:179499102-179499118 chr5:179499110-179499126 chr5:179499223-179499239 chr5:179498712-179498728 chr5:179498706-179498722
43	BHLHE40	chr5:179498393-179498665	GM12878	blood:	n/a	n/a
44	BHLHE40	chr5:179495507-179495828	K562	blood:	n/a	n/a
45	BHLHE40	chr5:179532885-179533103	K562	blood:	n/a	n/a
46	BHLHE40	chr5:179517248-179517715	K562	blood:	n/a	n/a
47	BHLHE40	chr5:179509871-179509889	K562	blood:	n/a	n/a
48	BHLHE40	chr5:179496931-179497258	HepG2	liver:	n/a	n/a
49	BHLHE40	chr5:179498868-179499359	GM12878	blood:	n/a	chr5:179499102-179499118 chr5:179499110-179499126 chr5:179499223-179499239
50	BHLHE40	chr5:179397977-179398432	GM12878	blood:	n/a	n/a

(count:2686 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179495386-179495436	ovcar-3	ovarian:	n/a
2	chr5:179498303-179498353	AoSMC	blood vessel:	n/a
3	chr5:179495386-179495436	ovcar-3	ovarian:	n/a
4	chr5:179498303-179498353	AoSMC	blood vessel:	n/a
5	chr5:179473113-179473163	MCF10A-Er-Src	breast:	n/a
6	chr5:179528386-179528436	ovcar-3	ovarian:	n/a
7	chr5:179499311-179499361	HAEpiC	amniotic membrane:	n/a
8	chr5:179401436-179401486	AoSMC	blood vessel:	n/a
9	chr5:179518013-179518063	PrEC	prostate:	n/a
10	chr5:179501688-179501738	K562	blood:	n/a
11	chr5:179517626-179517676	HCF	heart:	n/a
12	chr5:179473016-179473066	HNPCEpiC	eye:	n/a
13	chr5:179448992-179449042	HCT-116	colon:	n/a
14	chr5:179499304-179499354	HL-60	blood:	n/a
15	chr5:179468715-179468765	HPAEpiC	pulmonary alveolar:	n/a
16	chr5:179373290-179373340	BJ	skin:	n/a
17	chr5:179448992-179449042	ECC-1	luminal epithelium:	n/a
18	chr5:179517140-179517190	A549	lung:	n/a
19	chr5:179393940-179393990	T-47D	breast:	n/a
20	chr5:179402240-179402290	HRE	kidney:	n/a
21	chr5:179401804-179401854	ovcar-3	ovarian:	n/a
22	chr5:179393940-179393990	U87	brain:	n/a
23	chr5:179514901-179514951	SAEC	small airway:	n/a
24	chr5:179393917-179393967	SK-N-SH_RA	brain:	n/a
25	chr5:179372900-179372950	GM12892	blood:	n/a
26	chr5:179498303-179498353	RPTEC	kidney:	n/a
27	chr5:179499311-179499361	HCT-116	colon:	n/a
28	chr5:179499824-179499874	AG09319	gingival:	n/a
29	chr5:179498943-179498993	GM12892	blood:	n/a
30	chr5:179448895-179448945	GM12878	blood:	n/a
31	chr5:179372900-179372950	HCF	heart:	n/a
32	chr5:179448958-179449008	HPAEpiC	pulmonary alveolar:	n/a
33	chr5:179517626-179517676	H1-hESC	embryonic stem cell:	embryo
34	chr5:179499304-179499354	HCT-116	colon:	n/a
35	chr5:179443887-179443937	HCT-116	colon:	n/a
36	chr5:179473113-179473163	NHBE	bronchial:	n/a
37	chr5:179393917-179393967	HRE	kidney:	n/a
38	chr5:179496893-179496943	PANC-1	pancreas:	n/a
39	chr5:179499304-179499354	HAEpiC	amniotic membrane:	n/a
40	chr5:179498303-179498353	Hepatocyte	liver:	n/a
41	chr5:179468715-179468765	HNPCEpiC	eye:	n/a
42	chr5:179448958-179449008	SKMC	muscle:	n/a
43	chr5:179499304-179499354	HNPCEpiC	eye:	n/a
44	chr5:179510820-179510870	SKMC	muscle:	n/a
45	chr5:179494929-179494979	H1-hESC	embryonic stem cell:	embryo
46	chr5:179514901-179514951	BJ	skin:	n/a
47	chr5:179372946-179372996	AG04450	lung:	fetal
48	chr5:179518013-179518063	Caco-2	colon:	n/a
49	chr5:179448958-179449008	ProgFib	skin:	n/a
50	chr5:179517626-179517676	AG04449	skin:	fetal

(count:200 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:179389315..179391014-chr5:179392894..179395690,2	K562	blood:
2	chr5:179385954..179387871-chr5:179389769..179391288,2	K562	blood:
3	chr5:179339757..179341423-chr5:179384531..179387426,2	MCF-7	breast:
4	chr5:179473631..179475664-chr5:179477740..179480217,2	K562	blood:
5	chr5:179466250..179468313-chr5:179480534..179483405,2	MCF-7	breast:
6	chr5:179480070..179481635-chr5:179485420..179487501,2	K562	blood:
7	chr5:179477454..179480172-chr5:179480653..179484113,3	MCF-7	breast:
8	chr5:179439048..179442234-chr5:179444024..179447573,4	K562	blood:
9	chr5:179429959..179431580-chr5:179476627..179479409,2	K562	blood:
10	chr5:179443209..179445457-chr5:179448507..179450019,2	K562	blood:
11	chr5:179443617..179446152-chr5:179448678..179450322,2	MCF-7	breast:
12	chr5:179413434..179413943-chr5:179636169..179636674,2	K562	blood:
13	chr5:179435243..179436758-chr5:179452020..179454340,2	K562	blood:
14	chr5:179492115..179494311-chr5:179517115..179518627,2	MCF-7	breast:
15	chr5:179452407..179455273-chr5:179474700..179476534,2	K562	blood:
16	chr5:179451009..179454455-chr5:179516109..179519066,3	MCF-7	breast:
17	chr5:179499106..179500693-chr5:179512372..179515293,2	K562	blood:
18	chr5:179439567..179442502-chr5:179447690..179450010,2	MCF-7	breast:
19	chr5:179474524..179477374-chr5:179479073..179481485,2	MCF-7	breast:
20	chr5:179466416..179468194-chr5:179492310..179494462,2	MCF-7	breast:
21	chr5:179420546..179422994-chr5:179425092..179427290,2	MCF-7	breast:
22	chr5:179512072..179514458-chr5:179515699..179518441,2	MCF-7	breast:
23	chr5:179505842..179508438-chr5:179517931..179520878,2	K562	blood:
24	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
25	chr5:179332164..179334090-chr5:179510604..179512176,2	MCF-7	breast:
26	chr5:179495694..179500359-chr5:179515816..179519621,6	MCF-7	breast:
27	chr5:154133591..154135701-chr5:179497285..179498805,3	MCF-7	breast:
28	chr5:179460133..179464010-chr5:179497650..179500177,4	MCF-7	breast:
29	chr5:179232497..179234791-chr5:179448206..179450575,2	MCF-7	breast:
30	chr5:179409014..179411670-chr5:179414218..179416406,2	MCF-7	breast:
31	chr5:179469293..179473403-chr5:179473812..179477504,5	MCF-7	breast:
32	chr5:179467128..179469131-chr5:179495464..179498336,2	MCF-7	breast:
33	chr5:179474733..179479669-chr5:179495487..179500173,5	K562	blood:
34	chr5:179524354..179527466-chr5:179530067..179534341,5	K562	blood:
35	chr5:179497349..179500841-chr5:179500888..179506645,9	MCF-7	breast:
36	chr5:179246226..179248530-chr5:179451995..179454852,2	MCF-7	breast:
37	chr5:179452184..179453736-chr5:179495746..179497610,2	MCF-7	breast:
38	chr5:179447316..179449244-chr5:179516942..179519007,2	MCF-7	breast:
39	chr5:179404319..179405843-chr5:179497809..179500320,2	K562	blood:
40	chr5:179474557..179476078-chr5:179480075..179482538,2	MCF-7	breast:
41	chr5:179505484..179507567-chr5:179509835..179511460,2	MCF-7	breast:
42	chr5:179489682..179493173-chr5:179498595..179500397,3	MCF-7	breast:
43	chr5:179473631..179475664-chr5:179477740..179480217,2	K562	blood:
44	chr5:179466042..179468757-chr5:179469985..179473584,3	K562	blood:
45	chr5:179505750..179508557-chr5:179532943..179534980,2	MCF-7	breast:
46	chr5:179246093..179248273-chr5:179497691..179500264,2	MCF-7	breast:
47	chr5:179317517..179319210-chr5:179536081..179538305,2	K562	blood:
48	chr5:179449447..179452812-chr5:179452843..179455621,3	K562	blood:
49	chr5:179448640..179449492-chr5:179517155..179518787,5	MCF-7	breast:
50	chr5:179409014..179411670-chr5:179414218..179416406,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF130-3	chr5:179505357-179508661	NONHSAT105668
2	lnc-CTC-241N9.1.1-1	chr5:179390615-179390732	ENSG00000249412.1
3	lnc-TBC1D9B-3	chr5:179366457-179367132	NONHSAT105659
4	lnc-CTC-241N9.1.1-1	chr5:179390969-179391419	ENSG00000249412.1
5	lnc-TBC1D9B-4	chr5:179382480-179382669	NONHSAT105661
6	lnc-TBC1D9B-4	chr5:179383045-179383516	NONHSAT105661

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

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RNF130	hsa-miR-320a	chr5:179382510-179382531

Variant related genes	Relation type
RPS15AP18	TF binding region
RNF130	TF binding region
MIR340	TF binding region
ENSG00000253480	TF binding region
ENSG00000249876	TF binding region
ENSG00000249412	TF binding region
RPS15AP18	CpG island
RNF130	CpG island
MIR340	CpG island
ENSG00000253480	CpG island
ENSG00000249876	CpG island
ENSG00000249412	CpG island
ENSG00000253480	chromatin interactions
ENSG00000265818	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000249412	chromatin interactions
ENSG00000155506	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000124802	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000249876	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000198995	chromatin interactions
ENSG00000161021	chromatin interactions
KLHL42	Mature miRNA region
BIVM	Mature miRNA region
CHMP4B	Mature miRNA region
CCBL2	Mature miRNA region
LMNA	Mature miRNA region
ATXN1	Mature miRNA region
UBE2Z	Mature miRNA region
RNF11	Mature miRNA region
SAMD12	Mature miRNA region
MPHOSPH9	Mature miRNA region
KIF11	Mature miRNA region
PLAG1	Mature miRNA region
BTG3	Mature miRNA region
ITPR1	Mature miRNA region
ZNF83	Mature miRNA region
NUP50	Mature miRNA region
MESDC1	Mature miRNA region
KRT15	Mature miRNA region
TMEM245	Mature miRNA region
SCML2	Mature miRNA region
SZRD1	Mature miRNA region
KCTD20	Mature miRNA region
SPIN4	Mature miRNA region
HYPK	Mature miRNA region
SOX4	Mature miRNA region
ARHGAP12	Mature miRNA region
ACSL3	Mature miRNA region
RIT1	Mature miRNA region
OSBPL1A	Mature miRNA region
SLX4	Mature miRNA region
HOXA9	Mature miRNA region
SKI	Mature miRNA region
TES	Mature miRNA region
LBR	Mature miRNA region
DDX5	Mature miRNA region
CRY2	Mature miRNA region
LYSMD3	Mature miRNA region
GK5	Mature miRNA region
CTTN	Mature miRNA region
BCL2L11	Mature miRNA region
C1orf198	Mature miRNA region
CDC23	Mature miRNA region
LPCAT1	Mature miRNA region
GID8	Mature miRNA region
AMOT	Mature miRNA region
DEPDC1	Mature miRNA region
SLC16A14	Mature miRNA region
NEK7	Mature miRNA region
EFHD2	Mature miRNA region
GGCT	Mature miRNA region
TNFRSF10B	Mature miRNA region
ZIC5	Mature miRNA region
CSDE1	Mature miRNA region
SOWAHC	Mature miRNA region
SIVA1	Mature miRNA region
MCMBP	Mature miRNA region
DCTN5	Mature miRNA region
TUBB3	Mature miRNA region
ASF1A	Mature miRNA region
ZFYVE26	Mature miRNA region
RAB5B	Mature miRNA region
SHCBP1	Mature miRNA region
SERTAD2	Mature miRNA region
CAPRIN2	Mature miRNA region
ANKRD29	Mature miRNA region
RBM8A	Mature miRNA region
YWHAZ	Mature miRNA region
KAT6B	Mature miRNA region
BBS10	Mature miRNA region
KCNK1	Mature miRNA region
ZCCHC2	Mature miRNA region
ID4	Mature miRNA region
SLC35G1	Mature miRNA region
PIM3	Mature miRNA region
CD46	Mature miRNA region
OTUD1	Mature miRNA region
KIAA1586	Mature miRNA region
NUFIP2	Mature miRNA region
EP400	Mature miRNA region
QSOX2	Mature miRNA region
PDE4D	Mature miRNA region
KDELC2	Mature miRNA region
ANKRD9	Mature miRNA region
TMEM138	Mature miRNA region
BCL10	Mature miRNA region
BTBD10	Mature miRNA region
REV3L	Mature miRNA region
LRPPRC	Mature miRNA region
LEPR	Mature miRNA region
BCL11A	Mature miRNA region
HSDL1	Mature miRNA region
RFWD3	Mature miRNA region
ZNF35	Mature miRNA region
MGST2	Mature miRNA region
SLC7A11	Mature miRNA region
CYP1B1	Mature miRNA region
ELAVL1	Mature miRNA region
ATP1A1	Mature miRNA region
TXLNG	Mature miRNA region
CREBZF	Mature miRNA region
APPL1	Mature miRNA region
ACIN1	Mature miRNA region
TLX1	Mature miRNA region
GALNT3	Mature miRNA region
ZNF107	Mature miRNA region
MET	Mature miRNA region
SMC3	Mature miRNA region
PTPDC1	Mature miRNA region
HOXA5	Mature miRNA region
EIF3L	Mature miRNA region
FBXL3	Mature miRNA region
SLC39A7	Mature miRNA region
BPGM	Mature miRNA region
ZNF776	Mature miRNA region
KLF10	Mature miRNA region
GPX8	Mature miRNA region
ZFHX3	Mature miRNA region
PPP1R14C	Mature miRNA region
MRPL12	Mature miRNA region
MINPP1	Mature miRNA region
HECTD2	Mature miRNA region
YIPF2	Mature miRNA region
EEF1A1	Mature miRNA region
FBXO21	Mature miRNA region
PPP2CA	Mature miRNA region
MYLIP	Mature miRNA region
LIMS1	Mature miRNA region
ANKRD40	Mature miRNA region
NKRF	Mature miRNA region
PELI1	Mature miRNA region
NET1	Mature miRNA region
SYPL1	Mature miRNA region
C1orf43	Mature miRNA region
ECH1	Mature miRNA region

Extended variants
information (count: 6728 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:6728 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79448685	chr5:179365649-179365650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576470447	chr5:179365650-179365651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554769745	chr5:179365662-179365663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370020672	chr5:179365730-179365731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543938877	chr5:179365807-179365808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9885239	chr5:179365842-179365843	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569634150	chr5:179365846-179365847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535576072	chr5:179365888-179365889	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs467764	chr5:179365910-179365911	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559702855	chr5:179365916-179365917	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571487698	chr5:179365940-179365941	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs13164817	chr5:179365949-179365950	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs377054454	chr5:179365965-179365966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563537057	chr5:179366060-179366061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112715721	chr5:179366073-179366074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534943269	chr5:179366144-179366145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372878308	chr5:179366150-179366151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548695973	chr5:179366168-179366169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567006069	chr5:179366173-179366174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558042214	chr5:179366218-179366219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528091772	chr5:179366243-179366244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558383267	chr5:179366278-179366279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398084692	chr5:179366283-179366284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373037471	chr5:179366284-179366285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377508544	chr5:179366285-179366286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546160546	chr5:179366313-179366314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141328628	chr5:179366346-179366347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145363479	chr5:179366382-179366383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191004824	chr5:179366419-179366420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370868900	chr5:179366454-179366455	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570279073	chr5:179366463-179366464	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs537622851	chr5:179366572-179366573	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs555934666	chr5:179366604-179366605	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs574150540	chr5:179366627-179366628	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs112960734	chr5:179366635-179366636	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs541436891	chr5:179366656-179366657	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs137922168	chr5:179366661-179366662	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs140882773	chr5:179366711-179366712	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs545332370	chr5:179366722-179366723	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs116439920	chr5:179366723-179366724	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs76731983	chr5:179366750-179366751	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs542379343	chr5:179366769-179366770	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs17079813	chr5:179366824-179366825	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528128797	chr5:179366849-179366850	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs74696544	chr5:179366850-179366851	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs571262782	chr5:179366892-179366893	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs539805445	chr5:179366916-179366917	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs183072139	chr5:179366926-179366927	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs188195877	chr5:179366941-179366942	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs34848443	chr5:179366952-179366953	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Autism	22543975	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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:4697 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179344600-179381600	Weak transcription	Fetal Brain Male	brain
2	chr5:179347200-179381000	Weak transcription	Brain Angular Gyrus	brain
3	chr5:179347400-179372000	Weak transcription	Brain Germinal Matrix	brain
4	chr5:179351000-179372200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:179354200-179381400	Weak transcription	Fetal Brain Female	brain
6	chr5:179359000-179368800	Weak transcription	Right Atrium	heart
7	chr5:179359000-179381000	Weak transcription	Brain Substantia Nigra	brain
8	chr5:179359000-179381200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:179359400-179373000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:179360200-179377400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:179361200-179372200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:179363000-179368200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:179363400-179373800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:179364600-179368200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:179366400-179366600	Enhancers	Duodenum Mucosa	Duodenum
16	chr5:179366600-179372200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:179366600-179382000	Weak transcription	Fetal Lung	lung
18	chr5:179367000-179374000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:179367400-179381400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:179368200-179368600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:179368200-179369200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:179368400-179381400	Weak transcription	Left Ventricle	heart
23	chr5:179368600-179369600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:179368800-179372000	Weak transcription	Fetal Stomach	stomach
25	chr5:179369000-179381000	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:179369000-179381400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:179369200-179370400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:179369600-179370600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:179369800-179381400	Weak transcription	Ovary	ovary
30	chr5:179370000-179382800	Weak transcription	Lung	lung
31	chr5:179370200-179370400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:179370200-179370800	Enhancers	Liver	Liver
33	chr5:179370200-179370800	Enhancers	HepG2	liver
34	chr5:179370200-179392800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:179370400-179372200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:179370400-179372200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:179370400-179374000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:179370400-179374200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:179370400-179376800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:179370600-179372000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:179370800-179374000	Weak transcription	Liver	Liver
42	chr5:179370800-179380800	Weak transcription	Adipose Nuclei	Adipose
43	chr5:179370800-179386800	Weak transcription	HepG2	liver
44	chr5:179371000-179381400	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:179371800-179372000	Active TSS	Stomach Smooth Muscle	stomach
46	chr5:179371800-179377400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:179372000-179372600	Strong transcription	Brain Germinal Matrix	brain
48	chr5:179372000-179373000	Strong transcription	Fetal Stomach	stomach
49	chr5:179372000-179373400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:179372000-179381000	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links