Variant report

Variant	nsv515611
Chromosome Location	chr5:115208843-115428381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2373)
CpG islands
(count:2688)
Chromatin interactive
region (count:113)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2373 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:115403795-115404079	K562	blood:	n/a	n/a
2	ARID3A	chr5:115420453-115420725	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:115223798-115224003	K562	blood:	n/a	n/a
4	ARID3A	chr5:115209164-115209423	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:115420927-115421286	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:115305895-115305924	K562	blood:	n/a	n/a
7	ARID3A	chr5:115410898-115411078	K562	blood:	n/a	n/a
8	ARID3A	chr5:115338438-115338492	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:115223854-115223991	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:115367900-115368175	K562	blood:	n/a	n/a
11	ARID3A	chr5:115220750-115220987	HepG2	liver:	n/a	n/a
12	ATF1	chr5:115426098-115426398	K562	blood:	n/a	n/a
13	ATF1	chr5:115394162-115394612	K562	blood:	n/a	n/a
14	ATF1	chr5:115342618-115342831	K562	blood:	n/a	n/a
15	ATF1	chr5:115367730-115368219	K562	blood:	n/a	n/a
16	ATF1	chr5:115420602-115421231	K562	blood:	n/a	n/a
17	ATF1	chr5:115410893-115411113	K562	blood:	n/a	n/a
18	ATF2	chr5:115411962-115412753	GM12878	blood:	n/a	n/a
19	ATF2	chr5:115420461-115421375	GM12878	blood:	n/a	n/a
20	ATF2	chr5:115412006-115412690	GM12878	blood:	n/a	n/a
21	ATF2	chr5:115367704-115368194	GM12878	blood:	n/a	n/a
22	ATF2	chr5:115367677-115368276	GM12878	blood:	n/a	n/a
23	ATF2	chr5:115420612-115421281	GM12878	blood:	n/a	n/a
24	ATF3	chr5:115367737-115368181	K562	blood:	n/a	n/a
25	ATF3	chr5:115420907-115421300	K562	blood:	n/a	n/a
26	ATF3	chr5:115420549-115421037	A549	lung:	n/a	n/a
27	ATF3	chr5:115420925-115421272	GM12878	blood:	n/a	n/a
28	ATF3	chr5:115264135-115264632	HCT-116	colon:	n/a	n/a
29	ATF3	chr5:115265657-115266433	HCT-116	colon:	n/a	n/a
30	ATF3	chr5:115265826-115266223	A549	lung:	n/a	n/a
31	ATF3	chr5:115265671-115266431	HCT-116	colon:	n/a	n/a
32	ATF3	chr5:115367703-115368390	HCT-116	colon:	n/a	n/a
33	BACH1	chr5:115289945-115290173	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr5:115420883-115421200	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr5:115394268-115394429	K562	blood:	n/a	n/a
36	BATF	chr5:115412087-115412508	GM12878	blood:	n/a	n/a
37	BATF	chr5:115372991-115373241	GM12878	blood:	n/a	chr5:115373126-115373136 chr5:115373125-115373136
38	BATF	chr5:115372974-115373262	GM12878	blood:	n/a	chr5:115373126-115373136 chr5:115373125-115373136
39	BATF	chr5:115316893-115317171	GM12878	blood:	n/a	n/a
40	BATF	chr5:115411990-115412543	GM12878	blood:	n/a	n/a
41	BATF	chr5:115367875-115368141	GM12878	blood:	n/a	chr5:115368009-115368020
42	BCL11A	chr5:115412199-115412507	GM12878	blood:	n/a	chr5:115412389-115412398
43	BCL11A	chr5:115367806-115368162	GM12878	blood:	n/a	n/a
44	BCL11A	chr5:115412115-115412634	GM12878	blood:	n/a	chr5:115412389-115412398
45	BCL11A	chr5:115420926-115421266	GM12878	blood:	n/a	chr5:115421155-115421164
46	BCL3	chr5:115412069-115412535	GM12878	blood:	n/a	chr5:115412389-115412398
47	BCL3	chr5:115265804-115266312	GM12878	blood:	n/a	n/a
48	BCL3	chr5:115420758-115421173	GM12878	blood:	n/a	chr5:115421155-115421164 chr5:115420882-115420895 chr5:115420881-115420894 chr5:115420883-115420892 chr5:115420885-115420898
49	BCLAF1	chr5:115420554-115421384	GM12878	blood:	n/a	chr5:115420683-115420692 chr5:115421155-115421164 chr5:115420882-115420895 chr5:115420881-115420894 chr5:115420883-115420892 chr5:115420683-115420696 chr5:115420885-115420898
50	BCLAF1	chr5:115412047-115412635	GM12878	blood:	n/a	chr5:115412389-115412398

(count:2688 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:115297723-115297773	RPTEC	kidney:	n/a
2	chr5:115299828-115299878	HAEpiC	amniotic membrane:	n/a
3	chr5:115363186-115363236	PANC-1	pancreas:	n/a
4	chr5:115297488-115297538	AG04449	skin:	fetal
5	chr5:115297723-115297773	RPTEC	kidney:	n/a
6	chr5:115299828-115299878	HAEpiC	amniotic membrane:	n/a
7	chr5:115363186-115363236	PANC-1	pancreas:	n/a
8	chr5:115297488-115297538	AG04449	skin:	fetal
9	chr5:115297853-115297903	GM12878	blood:	n/a
10	chr5:115419633-115419683	K562	blood:	n/a
11	chr5:115274878-115274928	GM06990	blood:	n/a
12	chr5:115298704-115298754	HRE	kidney:	n/a
13	chr5:115299475-115299525	ECC-1	luminal epithelium:	n/a
14	chr5:115425060-115425110	AG04449	skin:	fetal
15	chr5:115297488-115297538	HUVEC	blood vessel:	n/a
16	chr5:115420544-115420594	NH-A	brain:	n/a
17	chr5:115284110-115284160	LNCaP	prostate:	n/a
18	chr5:115387976-115388026	HL-60	blood:	n/a
19	chr5:115289176-115289226	HNPCEpiC	eye:	n/a
20	chr5:115297853-115297903	T-47D	breast:	n/a
21	chr5:115299088-115299138	NT2-D1	testis:	n/a
22	chr5:115294261-115294311	K562	blood:	n/a
23	chr5:115298511-115298561	ProgFib	skin:	n/a
24	chr5:115298231-115298281	GM19239	blood:	n/a
25	chr5:115297690-115297740	HEK293	kidney:	embryo
26	chr5:115387951-115388001	Caco-2	colon:	n/a
27	chr5:115425060-115425110	HIPEpiC	eye:	n/a
28	chr5:115299088-115299138	BJ	skin:	n/a
29	chr5:115294261-115294311	HCT-116	colon:	n/a
30	chr5:115297723-115297773	HRCEpiC	kidney:	n/a
31	chr5:115294261-115294311	HepG2	liver:	n/a
32	chr5:115387984-115388034	HAEpiC	amniotic membrane:	n/a
33	chr5:115337401-115337451	HRCEpiC	kidney:	n/a
34	chr5:115373986-115374036	SK-N-SH	brain:	n/a
35	chr5:115298920-115298970	HEK293	kidney:	embryo
36	chr5:115421194-115421244	U87	brain:	n/a
37	chr5:115314451-115314501	HMEC	breast:	n/a
38	chr5:115322511-115322561	BE2_C	brain:	n/a
39	chr5:115421035-115421085	A549	lung:	n/a
40	chr5:115420761-115420811	GM12878	blood:	n/a
41	chr5:115425060-115425110	HCM	heart:	n/a
42	chr5:115294388-115294438	ProgFib	skin:	n/a
43	chr5:115387984-115388034	AG04450	lung:	fetal
44	chr5:115298079-115298129	HRCEpiC	kidney:	n/a
45	chr5:115297853-115297903	H1-hESC	embryonic stem cell:	embryo
46	chr5:115419881-115419931	AG04449	skin:	fetal
47	chr5:115421194-115421244	HRCEpiC	kidney:	n/a
48	chr5:115298079-115298129	AG04449	skin:	fetal
49	chr5:115322511-115322561	PANC-1	pancreas:	n/a
50	chr5:115209107-115209157	HUVEC	blood vessel:	n/a

(count:113 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:115408709..115410572-chr5:115414049..115415857,2	MCF-7	breast:
2	chr5:115379424..115381506-chr5:115383490..115386090,2	K562	blood:
3	chr5:115402359..115404249-chr5:115418524..115420135,2	K562	blood:
4	chr5:115418542..115422487-chr5:115423504..115427625,5	MCF-7	breast:
5	chr5:115409968..115416849-chr5:115417165..115422986,15	K562	blood:
6	chr5:115405163..115410303-chr5:115417488..115422793,7	K562	blood:
7	chr5:115357626..115360379-chr5:115363877..115366832,2	K562	blood:
8	chr5:115210792..115211545-chr5:115403396..115404332,2	MCF-7	breast:
9	chr5:115176344..115179132-chr5:115268451..115271240,2	K562	blood:
10	chr5:115242319..115244783-chr5:115252510..115254022,2	K562	blood:
11	chr5:114958936..114960751-chr5:115402229..115404106,2	K562	blood:
12	chr5:115169901..115171516-chr5:115224823..115226377,2	K562	blood:
13	chr5:115379944..115382363-chr5:115409164..115412094,2	MCF-7	breast:
14	chr5:115223646..115224387-chr5:115397745..115398268,2	MCF-7	breast:
15	chr5:115242319..115244783-chr5:115252510..115254022,2	K562	blood:
16	chr16:68772311..68772969-chr5:115376254..115377111,2	MCF-7	breast:
17	chr5:115318449..115319995-chr5:115320033..115322882,2	MCF-7	breast:
18	chr5:115402359..115404249-chr5:115418524..115420135,2	K562	blood:
19	chr5:115357626..115360379-chr5:115363877..115366832,2	K562	blood:
20	chr5:115418515..115421238-chr5:115424044..115426973,2	MCF-7	breast:
21	chr5:115175649..115178515-chr5:115418843..115420963,3	K562	blood:
22	chr5:115227371..115230053-chr5:115419222..115421109,2	MCF-7	breast:
23	chr5:115379424..115381506-chr5:115383490..115386090,2	K562	blood:
24	chr5:115339171..115341772-chr5:115344562..115347685,3	K562	blood:
25	chr5:115374690..115376752-chr5:115422929..115424884,2	K562	blood:
26	chr5:115266649..115268813-chr5:115285639..115288179,2	K562	blood:
27	chr5:115325159..115327094-chr5:115327462..115329055,2	K562	blood:
28	chr5:115223474..115224422-chr5:115405380..115406073,2	MCF-7	breast:
29	chr5:115223474..115224422-chr5:115405380..115406073,2	MCF-7	breast:
30	chr5:115402497..115406004-chr5:115407456..115411248,3	K562	blood:
31	chr5:115325463..115327847-chr5:115335444..115338217,2	K562	blood:
32	chr16:3073983..3074533-chr5:115420524..115421124,2	Hela-S3	cervix:
33	chr5:115175667..115177540-chr5:115402481..115405777,3	MCF-7	breast:
34	chr4:148160683..148161374-chr5:115362795..115363673,2	MCF-7	breast:
35	chr5:115175799..115178442-chr5:115221185..115223278,2	MCF-7	breast:
36	chr5:115338156..115340599-chr5:115341199..115344105,2	K562	blood:
37	chr5:115345258..115349032-chr5:115349377..115353428,5	K562	blood:
38	chr5:115316121..115317825-chr5:115326867..115328575,2	K562	blood:
39	chr5:115245411..115247547-chr5:115255771..115257429,2	K562	blood:
40	chr5:115351780..115354393-chr5:115357858..115360108,2	K562	blood:
41	chr5:115164592..115166592-chr5:115332938..115334988,2	K562	blood:
42	chr5:115329359..115331153-chr5:115337694..115340263,2	K562	blood:
43	chr5:115402497..115406004-chr5:115407456..115411248,3	K562	blood:
44	chr5:115374690..115378372-chr5:115418496..115424884,6	K562	blood:
45	chr5:115309826..115311459-chr5:115311683..115313948,2	K562	blood:
46	chr5:115412238..115416929-chr5:115418524..115421820,7	MCF-7	breast:
47	chr5:115175781..115177499-chr5:115307496..115309644,2	K562	blood:
48	chr5:115316121..115317825-chr5:115326867..115328575,2	K562	blood:
49	chr5:115325159..115327094-chr5:115327462..115329055,2	K562	blood:
50	chr5:115177383..115179062-chr5:115407993..115410177,2	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD10-8	chr5:115358088-115358163	NONHSAT103346
2	lnc-COMMD10-7	chr5:115367304-115367620	NONHSAT103348
3	lnc-LVRN.1-1	chr5:115294126-115295651	XLOC_004517
4	lnc-COMMD10-8	chr5:115356724-115357449	NONHSAT103346
5	lnc-COMMD10-7	chr5:115365620-115367298	NONHSAT103348
6	lnc-ATG12-4	chr5:115413807-115414267	ENSG00000272265.1
7	lnc-LVRN.1-1	chr5:115296816-115297015	XLOC_004517
8	lnc-LVRN.1-1	chr5:115292235-115292617	XLOC_004517
9	lnc-LVRN.1-1	chr5:115294108-115294320	XLOC_004517
10	lnc-ATG12-5	chr5:115419504-115421113	ENSG00000271918.1
11	lnc-COMMD10-8	chr5:115361675-115363300	NONHSAT103346
12	lnc-ATG12-2	chr5:115267146-115267687	NONHSAT103341
13	lnc-LVRN.1-1	chr5:115292239-115292617	XLOC_004517
14	lnc-ATG12-5	chr5:115419214-115420722	NONHSAT103353
15	lnc-LVRN.1-1	chr5:115292235-115292617	XLOC_004517

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	AP3S1	hsa-miR-30a-5p	chr5:115249241-115249260
2	AP3S1	hsa-miR-30a-5p	chr5:115249224-115249245
3	AP3S1	hsa-miR-30a-5p	chr5:115249253-115249259

Variant related genes	Relation type
ENSG00000185641	TF binding region
ARL14EPL	TF binding region
COMMD10	TF binding region
ENSG00000272265	TF binding region
ENSG00000268714	TF binding region
ENSG00000220996	TF binding region
ENSG00000172901	TF binding region
ENSG00000271918	TF binding region
ENSG00000221778	TF binding region
AP3S1	TF binding region
ENSG00000248295	TF binding region
ENSG00000185641	CpG island
ARL14EPL	CpG island
COMMD10	CpG island
ENSG00000272265	CpG island
ENSG00000268714	CpG island
ENSG00000220996	CpG island
ENSG00000172901	CpG island
ENSG00000271918	CpG island
ENSG00000221778	CpG island
AP3S1	CpG island
ENSG00000248295	CpG island
ENSG00000243414	chromatin interactions
ENSG00000134970	chromatin interactions
ENSG00000221778	chromatin interactions
ENSG00000131508	chromatin interactions
ENSG00000271931	chromatin interactions
ENSG00000248295	chromatin interactions
ENSG00000145781	chromatin interactions
ENSG00000271918	chromatin interactions
ENSG00000232648	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000145782	chromatin interactions
ENSG00000131652	chromatin interactions
ENSG00000172901	chromatin interactions
ENSG00000146278	chromatin interactions
ENSG00000251201	chromatin interactions
ENSG00000272265	chromatin interactions
ENSG00000177879	chromatin interactions
ENSG00000268714	chromatin interactions
ENSG00000103145	chromatin interactions
IGF2BP3	miRNA target sites

Extended variants
information (count: 9421 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:9421 , 50 per page) page: 1 2 3 4 5 6 7 ... 189

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3797569	chr5:115208843-115208844	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147027678	chr5:115208893-115208894	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551367054	chr5:115208907-115208908	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs116320905	chr5:115208913-115208914	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561153476	chr5:115208929-115208930	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528919618	chr5:115208998-115208999	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548689575	chr5:115209004-115209005	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73253119	chr5:115209038-115209039	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs147673922	chr5:115209039-115209040	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs79216936	chr5:115209042-115209043	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551139101	chr5:115209047-115209048	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142594115	chr5:115209067-115209068	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs80354399	chr5:115209071-115209072	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115890395	chr5:115209108-115209109	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs143398964	chr5:115209111-115209112	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536480463	chr5:115209124-115209125	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186309923	chr5:115209149-115209150	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576649671	chr5:115209164-115209165	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533719571	chr5:115209175-115209176	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs553585200	chr5:115209202-115209203	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545597536	chr5:115209262-115209263	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549238621	chr5:115209305-115209306	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545382854	chr5:115209331-115209332	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190607876	chr5:115209332-115209333	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572656064	chr5:115209343-115209344	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541373014	chr5:115209364-115209365	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7709480	chr5:115209394-115209395	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79870460	chr5:115209422-115209423	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181051434	chr5:115209423-115209424	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562243395	chr5:115209480-115209481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531311904	chr5:115209502-115209503	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556044540	chr5:115209529-115209530	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551319309	chr5:115209546-115209547	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571170777	chr5:115209567-115209568	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527555277	chr5:115209571-115209572	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185989017	chr5:115209579-115209580	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148348560	chr5:115209594-115209595	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367960654	chr5:115209699-115209700	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556442776	chr5:115209711-115209712	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567927949	chr5:115209751-115209752	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114947860	chr5:115209801-115209802	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191309588	chr5:115209877-115209878	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182405301	chr5:115209918-115209919	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs541441789	chr5:115209955-115209956	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs185946830	chr5:115209964-115209965	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs373109413	chr5:115210098-115210099	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs141548133	chr5:115210140-115210141	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111901084	chr5:115210200-115210201	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs114945663	chr5:115210246-115210247	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375011574	chr5:115210253-115210254	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Depressive disorder	21152026	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2261 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115185600-115218600	Weak transcription	Lung	lung
2	chr5:115189800-115218600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:115189800-115235800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:115191000-115223000	Weak transcription	Right Ventricle	heart
5	chr5:115193200-115239000	Weak transcription	Gastric	stomach
6	chr5:115193600-115234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:115194000-115211000	Weak transcription	HepG2	liver
8	chr5:115194200-115209000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:115194400-115218000	Weak transcription	Fetal Intestine Small	intestine
10	chr5:115194400-115220800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:115195400-115209000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
13	chr5:115195600-115214600	Weak transcription	HSMMtube	muscle
14	chr5:115196000-115211200	Weak transcription	Psoas Muscle	Psoas
15	chr5:115196000-115233600	Weak transcription	Esophagus	oesophagus
16	chr5:115200200-115209000	Weak transcription	K562	blood
17	chr5:115200400-115218200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:115200600-115209000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:115200600-115209000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:115200600-115213800	Weak transcription	Fetal Heart	heart
21	chr5:115200800-115209000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:115200800-115221000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:115201000-115218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:115202000-115209000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:115202000-115218000	Weak transcription	Fetal Stomach	stomach
26	chr5:115203000-115218000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:115203400-115233400	Weak transcription	Fetal Brain Male	brain
28	chr5:115203800-115213000	Weak transcription	NHEK	skin
29	chr5:115204200-115213000	Weak transcription	Brain Germinal Matrix	brain
30	chr5:115204800-115211600	Weak transcription	Brain Angular Gyrus	brain
31	chr5:115205000-115212400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:115205000-115218200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:115205000-115221600	Weak transcription	Spleen	Spleen
34	chr5:115205200-115209600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:115205200-115213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:115205400-115209400	Strong transcription	Liver	Liver
37	chr5:115205400-115220600	Weak transcription	Stomach Mucosa	stomach
38	chr5:115205600-115209000	Weak transcription	Hela-S3	cervix
39	chr5:115205600-115254200	Weak transcription	Small Intestine	intestine
40	chr5:115205800-115221400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:115206400-115218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:115206800-115209000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:115206800-115218200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:115207000-115209000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:115207000-115218000	Weak transcription	Placenta	Placenta
46	chr5:115207000-115218200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:115207200-115211000	Weak transcription	Dnd41	blood
48	chr5:115207200-115213600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr5:115207200-115215200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:115207200-115222600	Weak transcription	Brain Hippocampus Middle	brain

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