Variant report

Variant	esv3419592
Chromosome Location	chr7:6142526-6147024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1197)
CpG islands
(count:854)
Chromatin interactive
region (count:51)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1197 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:6144020-6144574	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:6142661-6142946	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:6144216-6144499	K562	blood:	n/a	n/a
4	ATF1	chr7:6144054-6144615	K562	blood:	n/a	n/a
5	ATF2	chr7:6143963-6144389	GM12878	blood:	n/a	n/a
6	ATF2	chr7:6143973-6144554	GM12878	blood:	n/a	n/a
7	ATF2	chr7:6143969-6144475	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr7:6144173-6144629	HepG2	liver:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
9	ATF3	chr7:6144239-6144555	GM12878	blood:	n/a	chr7:6144358-6144369
10	ATF3	chr7:6143916-6144364	A549	lung:	n/a	chr7:6144238-6144247
11	ATF3	chr7:6144003-6144589	A549	lung:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
12	ATF3	chr7:6144175-6144636	H1-hESC	embryonic stem cell:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
13	ATF3	chr7:6143966-6144624	GM12878	blood:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
14	ATF3	chr7:6144063-6144497	H1-hESC	embryonic stem cell:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
15	ATF3	chr7:6144119-6144750	K562	blood:	n/a	chr7:6144238-6144247 chr7:6144358-6144369
16	BACH1	chr7:6144078-6144449	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr7:6143876-6144448	A549	lung:	n/a	chr7:6144233-6144246
18	BCLAF1	chr7:6143976-6144609	GM12878	blood:	n/a	chr7:6144233-6144246
19	BCLAF1	chr7:6143958-6144586	GM12878	blood:	n/a	chr7:6144233-6144246
20	BHLHE40	chr7:6146157-6146452	K562	blood:	n/a	n/a
21	BHLHE40	chr7:6144032-6144593	HepG2	liver:	n/a	n/a
22	BHLHE40	chr7:6144159-6144652	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:6145410-6146494	GM12878	blood:	n/a	n/a
24	BHLHE40	chr7:6145264-6146399	HepG2	liver:	n/a	n/a
25	BHLHE40	chr7:6144020-6144538	K562	blood:	n/a	n/a
26	BRCA1	chr7:6144167-6144503	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr7:6144086-6144519	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr7:6144073-6144492	HepG2	liver:	n/a	n/a
29	BRCA1	chr7:6143567-6143579	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr7:6142378-6142578	HepG2	liver:	n/a	n/a
31	CBX3	chr7:6146004-6146485	K562	blood:	n/a	n/a
32	CBX3	chr7:6143832-6144479	K562	blood:	n/a	n/a
33	CCNT2	chr7:6144077-6145397	K562	blood:	n/a	chr7:6145165-6145174
34	CEBPB	chr7:6144055-6144537	Hela-S3	cervix:	n/a	chr7:6144318-6144326
35	CEBPB	chr7:6144198-6144352	HepG2	liver:	n/a	chr7:6144318-6144326
36	CEBPB	chr7:6144216-6144477	H1-hESC	embryonic stem cell:	n/a	chr7:6144318-6144326
37	CEBPD	chr7:6144048-6144445	HepG2	liver:	n/a	n/a
38	CEBPD	chr7:6143958-6144528	HepG2	liver:	n/a	n/a
39	CEBPZ	chr7:6142437-6142902	HepG2	liver:	n/a	n/a
40	CHD1	chr7:6144040-6144331	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr7:6145359-6145671	GM12878	blood:	n/a	n/a
42	CHD1	chr7:6146634-6146818	GM12878	blood:	n/a	n/a
43	CHD1	chr7:6144040-6144289	GM12878	blood:	n/a	n/a
44	CHD2	chr7:6144031-6144721	GM12878	blood:	n/a	n/a
45	CHD2	chr7:6145170-6145343	HepG2	liver:	n/a	n/a
46	CHD2	chr7:6144949-6145140	Hela-S3	cervix:	n/a	chr7:6145123-6145133
47	CHD2	chr7:6144033-6144561	HepG2	liver:	n/a	n/a
48	CHD2	chr7:6145873-6146353	GM12878	blood:	n/a	n/a
49	CHD2	chr7:6145331-6145604	GM12878	blood:	n/a	n/a
50	CHD2	chr7:6144023-6144696	Hela-S3	cervix:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6144399-6144449	HRCEpiC	kidney:	n/a
2	chr7:6144372-6144422	HEK293	kidney:	embryo
3	chr7:6144367-6144417	SK-N-MC	brain:	n/a
4	chr7:6144298-6144348	NHDF-neo	bronchial:	n/a
5	chr7:6144298-6144348	HRE	kidney:	n/a
6	chr7:6145595-6145645	GM12878	blood:	n/a
7	chr7:6143736-6143786	HIPEpiC	eye:	n/a
8	chr7:6144308-6144358	A549	lung:	n/a
9	chr7:6144372-6144422	GM19239	blood:	n/a
10	chr7:6144399-6144449	H1-hESC	embryonic stem cell:	embryo
11	chr7:6144399-6144449	NHBE	bronchial:	n/a
12	chr7:6144298-6144348	GM12878	blood:	n/a
13	chr7:6144127-6144177	BE2_C	brain:	n/a
14	chr7:6145057-6145107	HEK293	kidney:	embryo
15	chr7:6144367-6144417	CMK	blood:	n/a
16	chr7:6145309-6145359	HEEpiC	esophagus:	n/a
17	chr7:6143736-6143786	AG10803	skin:	n/a
18	chr7:6144372-6144422	A549	lung:	n/a
19	chr7:6143736-6143786	HEEpiC	esophagus:	n/a
20	chr7:6144298-6144348	U87	brain:	n/a
21	chr7:6144308-6144358	PrEC	prostate:	n/a
22	chr7:6144367-6144417	Jurkat	blood:	n/a
23	chr7:6144127-6144177	PrEC	prostate:	n/a
24	chr7:6144369-6144419	HRE	kidney:	n/a
25	chr7:6145595-6145645	CMK	blood:	n/a
26	chr7:6144399-6144449	NHDF-neo	bronchial:	n/a
27	chr7:6145114-6145164	IMR90	lung:	fetal
28	chr7:6145595-6145645	LNCaP	prostate:	n/a
29	chr7:6144308-6144358	HEK293	kidney:	embryo
30	chr7:6143736-6143786	IMR90	lung:	fetal
31	chr7:6145057-6145107	HEEpiC	esophagus:	n/a
32	chr7:6144399-6144449	HUVEC	blood vessel:	n/a
33	chr7:6145309-6145359	AG04450	lung:	fetal
34	chr7:6144127-6144177	HUVEC	blood vessel:	n/a
35	chr7:6144127-6144177	GM12892	blood:	n/a
36	chr7:6145114-6145164	GM12892	blood:	n/a
37	chr7:6144298-6144348	IMR90	lung:	fetal
38	chr7:6144372-6144422	GM12891	blood:	n/a
39	chr7:6145595-6145645	HPAEpiC	pulmonary alveolar:	n/a
40	chr7:6145114-6145164	GM06990	blood:	n/a
41	chr7:6145057-6145107	GM19239	blood:	n/a
42	chr7:6144298-6144348	AG09309	skin:	n/a
43	chr7:6144298-6144348	K562	blood:	n/a
44	chr7:6145105-6145155	GM06990	blood:	n/a
45	chr7:6145057-6145107	MCF-7	breast:	n/a
46	chr7:6144127-6144177	HCF	heart:	n/a
47	chr7:6144308-6144358	NT2-D1	testis:	n/a
48	chr7:6144298-6144348	BE2_C	brain:	n/a
49	chr7:6145105-6145155	HIPEpiC	eye:	n/a
50	chr7:6145105-6145155	BE2_C	brain:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:6146593..6149096-chr7:6152905..6155783,2	K562	blood:
2	chr13:103248649..103249379-chr7:6143733..6144282,2	NB4	blood:
3	chr7:6141805..6147526-chr7:6152442..6159269,12	MCF-7	breast:
4	chr7:6065831..6068709-chr7:6141820..6144838,4	MCF-7	breast:
5	chr7:6143900..6146202-chr7:6155214..6157141,2	MCF-7	breast:
6	chr7:6096763..6100631-chr7:6141376..6146373,15	MCF-7	breast:
7	chr17:34136464..34136998-chr7:6144143..6144663,2	Hela-S3	cervix:
8	chr7:6145063..6147709-chr7:6164403..6167299,2	MCF-7	breast:
9	chr7:6146902..6150449-chr7:6153024..6156434,3	K562	blood:
10	chr7:6062330..6064601-chr7:6141391..6143688,2	MCF-7	breast:
11	chr5:176830787..176831503-chr7:6143819..6144569,2	Hela-S3	cervix:
12	chr7:6118710..6122632-chr7:6142742..6146844,10	K562	blood:
13	chr7:6054308..6057610-chr7:6144384..6145966,3	K562	blood:
14	chr1:117601936..117602864-chr7:6143842..6144663,2	Hela-S3	cervix:
15	chr7:6144993..6146575-chr7:6155330..6157057,2	K562	blood:
16	chr7:6100114..6101811-chr7:6141887..6144361,2	K562	blood:
17	chr7:6119410..6124898-chr7:6141396..6145150,7	MCF-7	breast:
18	chr7:6143877..6144677-chr9:134000320..134001058,2	Hela-S3	cervix:
19	chr7:6119521..6122293-chr7:6142698..6146719,8	K562	blood:
20	chr7:6048826..6049627-chr7:6143766..6144544,2	HCT-116	colon:
21	chr7:6142905..6144683-chr7:6522279..6524664,2	MCF-7	breast:
22	chr7:6143696..6144293-chr7:73153152..73153874,2	Hela-S3	cervix:
23	chr7:6096872..6099965-chr7:6142845..6147736,5	MCF-7	breast:
24	chr7:6143403..6145262-chr7:6310829..6313708,2	MCF-7	breast:
25	chr17:56708604..56709142-chr7:6143631..6144302,2	Hela-S3	cervix:
26	chr7:6110355..6112451-chr7:6141705..6143583,2	K562	blood:
27	chr7:6064661..6068184-chr7:6142795..6145849,5	MCF-7	breast:
28	chr1:38061256..38061780-chr7:6143823..6144821,2	NB4	blood:
29	chr7:6094946..6099638-chr7:6140891..6146239,12	K562	blood:
30	chr7:6138803..6142532-chr7:6142595..6145839,5	MCF-7	breast:
31	chr7:6129689..6132230-chr7:6141187..6143186,2	K562	blood:
32	chr7:6047026..6051403-chr7:6141746..6146462,7	K562	blood:
33	chr7:6047404..6049912-chr7:6142714..6146343,4	MCF-7	breast:
34	chr7:6084295..6085840-chr7:6140826..6143593,2	K562	blood:
35	chr11:537982..538482-chr7:6143933..6144434,2	HCT-116	colon:
36	chr7:6095819..6096425-chr7:6145782..6146377,2	K562	blood:
37	chr7:6145257..6148014-chr7:6162760..6164511,2	K562	blood:
38	chr7:6118878..6122850-chr7:6140823..6146720,14	MCF-7	breast:
39	chr7:6142947..6145756-chr7:6145999..6148954,3	MCF-7	breast:
40	chr19:17516059..17516719-chr7:6143769..6144365,2	NB4	blood:
41	chr7:6055317..6057272-chr7:6144133..6145966,2	K562	blood:
42	chr2:135675640..135676288-chr7:6143525..6144422,2	Hela-S3	cervix:
43	chr7:6094497..6101614-chr7:6140891..6145784,14	K562	blood:
44	chr7:6046967..6050535-chr7:6141219..6149580,10	K562	blood:
45	chr10:17243122..17243935-chr7:6143879..6144532,2	HCT-116	colon:
46	chr3:73160101..73161088-chr7:6143657..6144592,2	Hela-S3	cervix:
47	chr7:6140101..6142777-chr7:6142839..6145208,2	MCF-7	breast:
48	chr7:6127500..6130529-chr7:6140681..6143799,3	MCF-7	breast:
49	chr7:6140966..6142574-chr7:6434049..6436038,2	K562	blood:
50	chr7:6054346..6056159-chr7:6142852..6144380,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2AK1-1	chr7:6144054-6144254	NONHSAT118982

No data

Variant related genes	Relation type
USP42	TF binding region
USP42	CpG island
ENSG00000106346	chromatin interactions
ENSG00000008256	chromatin interactions
ENSG00000269640	chromatin interactions
ENSG00000130303	chromatin interactions
ENSG00000198055	chromatin interactions
ENSG00000106077	chromatin interactions
ENSG00000224043	chromatin interactions
ENSG00000264605	chromatin interactions
ENSG00000131187	chromatin interactions
ENSG00000107614	chromatin interactions
ENSG00000172660	chromatin interactions
ENSG00000134697	chromatin interactions
ENSG00000236137	chromatin interactions
ENSG00000231704	chromatin interactions
ENSG00000086232	chromatin interactions
ENSG00000207217	chromatin interactions
ENSG00000269781	chromatin interactions
ENSG00000082258	chromatin interactions
ENSG00000252929	chromatin interactions
ENSG00000134900	chromatin interactions
ENSG00000122512	chromatin interactions
ENSG00000126883	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000106305	chromatin interactions
ENSG00000141971	chromatin interactions
ENSG00000136240	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs118038962	chr7:6142546-6142547	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs545525782	chr7:6142547-6142548	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs574710481	chr7:6142564-6142565	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs148216024	chr7:6142595-6142596	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs576201917	chr7:6142635-6142636	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs543691745	chr7:6142656-6142657	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs530690748	chr7:6142668-6142669	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs114086594	chr7:6142691-6142692	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs28373555	chr7:6142729-6142730	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546959999	chr7:6142824-6142825	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs79607670	chr7:6142878-6142879	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs117330863	chr7:6142899-6142900	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs117949406	chr7:6142913-6142914	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs570228138	chr7:6142971-6142972	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs572065477	chr7:6142984-6142985	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs180992406	chr7:6142996-6142997	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs114863186	chr7:6143002-6143003	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs185870095	chr7:6143024-6143025	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs567895105	chr7:6143028-6143029	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs140243320	chr7:6143042-6143043	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs553360834	chr7:6143059-6143060	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs564166409	chr7:6143098-6143099	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs368461438	chr7:6143147-6143148	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs74504117	chr7:6143149-6143150	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs75885205	chr7:6143160-6143161	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs578069707	chr7:6143167-6143168	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs576071801	chr7:6143217-6143218	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs189601655	chr7:6143230-6143231	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs539129436	chr7:6143256-6143257	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs557214628	chr7:6143285-6143286	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs142206053	chr7:6143369-6143370	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs76874455	chr7:6143372-6143373	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs398066574	chr7:6143385-6143386	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs199916390	chr7:6143386-6143387	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs201000582	chr7:6143387-6143388	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs56711435	chr7:6143391-6143392	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs113997883	chr7:6143406-6143407	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs181915520	chr7:6143427-6143428	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs115172022	chr7:6143464-6143465	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs150242906	chr7:6143490-6143491	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs186290209	chr7:6143520-6143521	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs78464387	chr7:6143527-6143528	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs114253051	chr7:6143575-6143576	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs551450030	chr7:6143577-6143578	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs563276752	chr7:6143587-6143588	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs73058621	chr7:6143625-6143626	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549285941	chr7:6143639-6143640	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs373507172	chr7:6143722-6143723	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs535288055	chr7:6143728-6143729	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs561609847	chr7:6143748-6143749	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6138800-6143400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:6139000-6143000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:6139200-6143200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:6139200-6144000	Weak transcription	Spleen	Spleen
5	chr7:6139800-6142800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:6139800-6143400	Weak transcription	Right Ventricle	heart
7	chr7:6141000-6143400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:6141200-6143000	Weak transcription	Liver	Liver
9	chr7:6141200-6143200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:6141200-6143400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:6141400-6142600	Weak transcription	K562	blood
12	chr7:6141600-6143200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:6141600-6143200	Weak transcription	Fetal Heart	heart
14	chr7:6142000-6143000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:6142200-6143000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:6142200-6143400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:6142400-6142600	Enhancers	Hela-S3	cervix
18	chr7:6142400-6143200	Enhancers	HepG2	liver
19	chr7:6142400-6143400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:6142400-6143400	Strong transcription	Fetal Intestine Small	intestine
21	chr7:6142600-6142800	Enhancers	Gastric	stomach
22	chr7:6142600-6142800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:6142600-6143000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:6142600-6143000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr7:6142600-6143200	Weak transcription	Hela-S3	cervix
26	chr7:6142600-6143200	Enhancers	K562	blood
27	chr7:6142600-6143400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:6142600-6143400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:6142600-6143400	Enhancers	Adipose Nuclei	Adipose
30	chr7:6142600-6143400	Enhancers	Brain Germinal Matrix	brain
31	chr7:6142600-6143400	Enhancers	Pancreas	Pancrea
32	chr7:6142600-6143400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr7:6142600-6143600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:6142600-6143600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:6142600-6143600	Enhancers	Fetal Brain Male	brain
36	chr7:6142600-6143800	Flanking Active TSS	Dnd41	blood
37	chr7:6142800-6143000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:6142800-6143200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:6142800-6143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:6142800-6143200	Enhancers	GM12878-XiMat	blood
41	chr7:6142800-6143400	Enhancers	Fetal Stomach	stomach
42	chr7:6142800-6143600	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:6142800-6144400	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr7:6143000-6143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:6143000-6143200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:6143000-6143200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:6143000-6143200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:6143000-6143200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:6143000-6143400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:6143000-6143400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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