Variant report

Variant	rs7682224
Chromosome Location	chr4:22693754-22693755
allele	C/T
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:0)
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	chr4:22693739-22693789	NHBE	bronchial:	n/a
2	chr4:22693739-22693789	Jurkat	blood:	n/a
3	chr4:22693739-22693789	HMEC	breast:	n/a
4	chr4:22693739-22693789	AoSMC	blood vessel:	n/a
5	chr4:22693739-22693789	HPAEpiC	pulmonary alveolar:	n/a
6	chr4:22693739-22693789	HAEpiC	amniotic membrane:	n/a
7	chr4:22693739-22693789	PFSK-1	brain:	n/a
8	chr4:22693739-22693789	HCF	heart:	n/a
9	chr4:22693739-22693789	HRCEpiC	kidney:	n/a
10	chr4:22693739-22693789	CMK	blood:	n/a
11	chr4:22693739-22693789	SKMC	muscle:	n/a
12	chr4:22693739-22693789	ECC-1	luminal epithelium:	n/a
13	chr4:22693739-22693789	GM06990	blood:	n/a
14	chr4:22693739-22693789	HCPEpiC	choroid plexus:	n/a
15	chr4:22693739-22693789	HRPEpiC	eye:	n/a
16	chr4:22693739-22693789	T-47D	breast:	n/a
17	chr4:22693739-22693789	GM19239	blood:	n/a
18	chr4:22693739-22693789	MCF10A-Er-Src	breast:	n/a
19	chr4:22693739-22693789	BE2_C	brain:	n/a
20	chr4:22693739-22693789	ovcar-3	ovarian:	n/a
21	chr4:22693739-22693789	HEEpiC	esophagus:	n/a
22	chr4:22693739-22693789	SK-N-SH	brain:	n/a
23	chr4:22693739-22693789	NB4	blood:	n/a
24	chr4:22693739-22693789	NHDF-neo	bronchial:	n/a
25	chr4:22693739-22693789	SK-N-SH_RA	brain:	n/a
26	chr4:22693739-22693789	AG04449	skin:	fetal
27	chr4:22693739-22693789	HRE	kidney:	n/a
28	chr4:22693739-22693789	BJ	skin:	n/a
29	chr4:22693739-22693789	HCT-116	colon:	n/a
30	chr4:22693739-22693789	PrEC	prostate:	n/a
31	chr4:22693739-22693789	SK-N-MC	brain:	n/a
32	chr4:22693739-22693789	ProgFib	skin:	n/a
33	chr4:22693739-22693789	LNCaP	prostate:	n/a
34	chr4:22693739-22693789	HL-60	blood:	n/a
35	chr4:22693739-22693789	SAEC	small airway:	n/a
36	chr4:22693739-22693789	GM12878	blood:	n/a
37	chr4:22693739-22693789	Hepatocyte	liver:	n/a
38	chr4:22693739-22693789	K562	blood:	n/a
39	chr4:22693739-22693789	HCM	heart:	n/a
40	chr4:22693739-22693789	HepG2	liver:	n/a
41	chr4:22693739-22693789	HEK293	kidney:	embryo
42	chr4:22693739-22693789	HNPCEpiC	eye:	n/a
43	chr4:22693739-22693789	GM12892	blood:	n/a
44	chr4:22693739-22693789	A549	lung:	n/a
45	chr4:22693739-22693789	MCF-7	breast:	n/a
46	chr4:22693739-22693789	Caco-2	colon:	n/a
47	chr4:22693739-22693789	H1-hESC	embryonic stem cell:	embryo
48	chr4:22693739-22693789	PANC-1	pancreas:	n/a
49	chr4:22693739-22693789	RPTEC	kidney:	n/a
50	chr4:22693739-22693789	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
GBA3	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10028144	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10030690	0.94[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.80[ASN][1000 genomes]
rs11942704	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12506107	0.94[CHB][hapmap];0.85[CHD][hapmap]
rs12509633	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485826	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1485827	0.94[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1485828	0.94[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs16873068	0.89[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs17539365	0.85[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs17611607	0.82[ASN][1000 genomes]
rs2013715	0.94[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2014512	0.89[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2127178	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2306717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28609379	0.82[ASN][1000 genomes]
rs2875116	0.80[ASN][1000 genomes]
rs6818185	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819056	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7684246	0.95[AFR][1000 genomes]
rs9884970	0.88[CHB][hapmap];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv829883	chr4:22666326-22842517	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7682224	GPR125	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22682200-22694600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:22692200-22694000	Enhancers	Liver	Liver
3	chr4:22692600-22694200	Enhancers	Fetal Intestine Small	intestine
4	chr4:22693400-22694400	Enhancers	Duodenum Mucosa	Duodenum
5	chr4:22693400-22695000	Enhancers	HepG2	liver
6	chr4:22693600-22694400	Enhancers	Fetal Intestine Large	intestine
7	chr4:22693600-22694800	Enhancers	Rectal Mucosa Donor 31	rectum

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