Variant report

Variant	rs7808971
Chromosome Location	chr7:138125434-138125435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:138125417-138125467	IMR90	lung:	fetal
2	chr7:138125417-138125467	MCF-7	breast:	n/a
3	chr7:138125417-138125467	HRE	kidney:	n/a
4	chr7:138125417-138125467	HEEpiC	esophagus:	n/a
5	chr7:138125417-138125467	ovcar-3	ovarian:	n/a
6	chr7:138125417-138125467	HEK293	kidney:	embryo
7	chr7:138125417-138125467	GM12892	blood:	n/a
8	chr7:138125417-138125467	AG04450	lung:	fetal
9	chr7:138125417-138125467	HMEC	breast:	n/a
10	chr7:138125417-138125467	T-47D	breast:	n/a
11	chr7:138125417-138125467	HCPEpiC	choroid plexus:	n/a
12	chr7:138125417-138125467	LNCaP	prostate:	n/a
13	chr7:138125417-138125467	HAEpiC	amniotic membrane:	n/a
14	chr7:138125417-138125467	MCF10A-Er-Src	breast:	n/a
15	chr7:138125417-138125467	AG09309	skin:	n/a
16	chr7:138125417-138125467	HCF	heart:	n/a
17	chr7:138125417-138125467	K562	blood:	n/a
18	chr7:138125417-138125467	CMK	blood:	n/a
19	chr7:138125417-138125467	SK-N-MC	brain:	n/a
20	chr7:138125417-138125467	AG04449	skin:	fetal
21	chr7:138125417-138125467	GM06990	blood:	n/a
22	chr7:138125417-138125467	BE2_C	brain:	n/a
23	chr7:138125417-138125467	U87	brain:	n/a
24	chr7:138125417-138125467	Jurkat	blood:	n/a
25	chr7:138125417-138125467	HepG2	liver:	n/a
26	chr7:138125417-138125467	HIPEpiC	eye:	n/a
27	chr7:138125417-138125467	GM19239	blood:	n/a
28	chr7:138125417-138125467	HCM	heart:	n/a
29	chr7:138125417-138125467	NT2-D1	testis:	n/a
30	chr7:138125417-138125467	NHDF-neo	bronchial:	n/a
31	chr7:138125417-138125467	PANC-1	pancreas:	n/a
32	chr7:138125417-138125467	A549	lung:	n/a
33	chr7:138125417-138125467	PFSK-1	brain:	n/a
34	chr7:138125417-138125467	PrEC	prostate:	n/a
35	chr7:138125417-138125467	BJ	skin:	n/a
36	chr7:138125417-138125467	HNPCEpiC	eye:	n/a
37	chr7:138125417-138125467	SKMC	muscle:	n/a
38	chr7:138125417-138125467	Hepatocyte	liver:	n/a
39	chr7:138125417-138125467	SK-N-SH_RA	brain:	n/a
40	chr7:138125417-138125467	HRCEpiC	kidney:	n/a
41	chr7:138125417-138125467	GM12878	blood:	n/a
42	chr7:138125417-138125467	SAEC	small airway:	n/a
43	chr7:138125417-138125467	SK-N-SH	brain:	n/a
44	chr7:138125417-138125467	Hela-S3	cervix:	n/a
45	chr7:138125417-138125467	AG10803	skin:	n/a
46	chr7:138125417-138125467	RPTEC	kidney:	n/a
47	chr7:138125417-138125467	GM12891	blood:	n/a
48	chr7:138125417-138125467	NH-A	brain:	n/a
49	chr7:138125417-138125467	NB4	blood:	n/a
50	chr7:138125417-138125467	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138123228..138126392-chr7:138142592..138145835,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214815	CpG island
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11765485	1.00[ASN][1000 genomes]
rs12707386	0.82[CHB][hapmap];1.00[ASN][1000 genomes]
rs17169595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822896	1.00[ASN][1000 genomes]
rs57258992	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57833573	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57924062	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58054997	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59103803	0.81[ASN][1000 genomes]
rs6970822	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7459225	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138119400-138125800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:138124400-138126800	Weak transcription	Gastric	stomach

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