Variant report

Variant	rs2876830
Chromosome Location	chr7:50612901-50612902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr7:50612621-50613005	HepG2	liver:	n/a	n/a
2	FOXA1	chr7:50612594-50613042	HepG2	liver:	n/a	n/a
3	FOXA1	chr7:50612696-50612980	T-47D	breast:	n/a	n/a
4	FOXA1	chr7:50612644-50613028	HepG2	liver:	n/a	n/a
5	CEBPB	chr7:50612762-50612930	HepG2	liver:	n/a	n/a
6	CEBPB	chr7:50612799-50612953	Hela-S3	cervix:	n/a	n/a
7	FOXA1	chr7:50612649-50613088	HepG2	liver:	n/a	n/a
8	FOXA1	chr7:50612720-50612968	T-47D	breast:	n/a	n/a
9	CEBPB	chr7:50612690-50613026	HepG2	liver:	n/a	n/a
10	FOXA2	chr7:50612440-50613061	HepG2	liver:	n/a	n/a
11	FOXA2	chr7:50612677-50612978	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:50612853-50612903	HAEpiC	amniotic membrane:	n/a
2	chr7:50612853-50612903	GM06990	blood:	n/a
3	chr7:50612853-50612903	NHBE	bronchial:	n/a
4	chr7:50612853-50612903	HRPEpiC	eye:	n/a
5	chr7:50612853-50612903	HRCEpiC	kidney:	n/a
6	chr7:50612853-50612903	ovcar-3	ovarian:	n/a
7	chr7:50612853-50612903	AG04450	lung:	fetal
8	chr7:50612853-50612903	HUVEC	blood vessel:	n/a
9	chr7:50612853-50612903	GM12892	blood:	n/a
10	chr7:50612853-50612903	SKMC	muscle:	n/a
11	chr7:50612853-50612903	HNPCEpiC	eye:	n/a
12	chr7:50612853-50612903	HEEpiC	esophagus:	n/a
13	chr7:50612853-50612903	AG10803	skin:	n/a
14	chr7:50612853-50612903	BE2_C	brain:	n/a
15	chr7:50612853-50612903	MCF10A-Er-Src	breast:	n/a
16	chr7:50612853-50612903	PANC-1	pancreas:	n/a
17	chr7:50612853-50612903	GM19239	blood:	n/a
18	chr7:50612853-50612903	ProgFib	skin:	n/a
19	chr7:50612853-50612903	SAEC	small airway:	n/a
20	chr7:50612853-50612903	SK-N-SH	brain:	n/a
21	chr7:50612853-50612903	Hela-S3	cervix:	n/a
22	chr7:50612853-50612903	Hepatocyte	liver:	n/a
23	chr7:50612853-50612903	HRE	kidney:	n/a
24	chr7:50612853-50612903	NB4	blood:	n/a
25	chr7:50612853-50612903	Jurkat	blood:	n/a
26	chr7:50612853-50612903	GM12878	blood:	n/a
27	chr7:50612853-50612903	AG09319	gingival:	n/a
28	chr7:50612853-50612903	K562	blood:	n/a
29	chr7:50612853-50612903	MCF-7	breast:	n/a
30	chr7:50612853-50612903	U87	brain:	n/a
31	chr7:50612853-50612903	SK-N-SH_RA	brain:	n/a
32	chr7:50612853-50612903	HCT-116	colon:	n/a
33	chr7:50612853-50612903	NH-A	brain:	n/a
34	chr7:50612853-50612903	HCF	heart:	n/a
35	chr7:50612853-50612903	HEK293	kidney:	embryo
36	chr7:50612853-50612903	GM12891	blood:	n/a
37	chr7:50612853-50612903	SK-N-MC	brain:	n/a
38	chr7:50612853-50612903	H1-hESC	embryonic stem cell:	embryo
39	chr7:50612853-50612903	HCM	heart:	n/a
40	chr7:50612853-50612903	BJ	skin:	n/a
41	chr7:50612853-50612903	A549	lung:	n/a
42	chr7:50612853-50612903	PrEC	prostate:	n/a
43	chr7:50612853-50612903	HCPEpiC	choroid plexus:	n/a
44	chr7:50612853-50612903	PFSK-1	brain:	n/a
45	chr7:50612853-50612903	ECC-1	luminal epithelium:	n/a
46	chr7:50612853-50612903	AG09309	skin:	n/a
47	chr7:50612853-50612903	CMK	blood:	n/a
48	chr7:50612853-50612903	NHDF-neo	bronchial:	n/a
49	chr7:50612853-50612903	Caco-2	colon:	n/a
50	chr7:50612853-50612903	IMR90	lung:	fetal

No data

Variant related genes	Relation type
DDC	TF binding region
DDC	CpG island

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10268819	1.00[JPT][hapmap]
rs1037350	0.84[ASN][1000 genomes]
rs10499691	0.84[ASN][1000 genomes]
rs10499696	1.00[JPT][hapmap]
rs1107742	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1107743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11575282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575298	1.00[JPT][hapmap]
rs11575313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575342	1.00[JPT][hapmap]
rs11575349	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11575404	1.00[JPT][hapmap]
rs11575410	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11575442	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11575521	0.91[ASN][1000 genomes]
rs11575548	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11575553	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11575562	0.84[ASN][1000 genomes]
rs11771818	1.00[JPT][hapmap]
rs11976368	0.84[ASN][1000 genomes]
rs11978591	0.84[ASN][1000 genomes]
rs1349491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466163	1.00[JPT][hapmap]
rs1470748	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17133817	0.84[ASN][1000 genomes]
rs17133826	0.84[ASN][1000 genomes]
rs17553036	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17553791	1.00[JPT][hapmap]
rs17634476	0.84[ASN][1000 genomes]
rs17634717	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17634771	1.00[JPT][hapmap]
rs17634958	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17635123	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2100279	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2122817	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2242041	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2329367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2329369	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715126	1.00[JPT][hapmap]
rs2876826	0.85[ASN][1000 genomes]
rs3177656	1.00[JPT][hapmap]
rs3735271	0.82[EUR][1000 genomes]
rs3779081	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3807550	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3807551	0.82[EUR][1000 genomes]
rs3807553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4469405	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4585697	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs4602840	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4947710	0.82[EUR][1000 genomes]
rs55834323	0.82[EUR][1000 genomes]
rs56056130	0.84[ASN][1000 genomes]
rs56670620	0.85[EUR][1000 genomes]
rs58129743	0.85[EUR][1000 genomes]
rs67275148	0.85[EUR][1000 genomes]
rs6944090	0.88[CHB][hapmap]
rs6959427	0.80[ASN][1000 genomes]
rs71018475	0.83[ASN][1000 genomes]
rs73117270	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73119230	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73119239	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73119245	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73119251	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73121271	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73121282	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73121285	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73121287	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73121290	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73121292	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123220	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123247	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123249	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123251	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123254	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123257	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123261	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123264	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123266	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123285	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123291	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125208	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73125215	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73125225	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129082	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73129084	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73129088	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73129091	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73129096	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73131006	0.82[EUR][1000 genomes]
rs73131008	0.82[EUR][1000 genomes]
rs73131013	0.82[EUR][1000 genomes]
rs73131078	0.82[EUR][1000 genomes]
rs73695642	0.84[ASN][1000 genomes]
rs73695660	0.84[ASN][1000 genomes]
rs73695663	0.84[ASN][1000 genomes]
rs7777600	0.88[CHB][hapmap];0.89[ASN][1000 genomes]
rs896308	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9656664	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv429750	chr7:50603534-50622712	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv429752	chr7:50607353-50620030	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv429751	chr7:50607353-50622712	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50600600-50619400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50601600-50631400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50602600-50618200	Weak transcription	Pancreas	Pancrea
4	chr7:50602800-50613800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:50603600-50613000	Strong transcription	Duodenum Mucosa	Duodenum
6	chr7:50611000-50631800	Weak transcription	Colonic Mucosa	Colon
7	chr7:50611600-50623800	Weak transcription	Liver	Liver
8	chr7:50611800-50614200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:50612000-50619600	Weak transcription	Fetal Intestine Large	intestine
10	chr7:50612400-50617600	Weak transcription	Fetal Intestine Small	intestine
11	chr7:50612600-50613000	Enhancers	HepG2	liver

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