Variant report

Variant	rs12538550
Chromosome Location	chr7:122327741-122327742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12530951	0.89[EUR][1000 genomes]
rs12532793	0.88[EUR][1000 genomes]
rs12533063	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs12537488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs1476898	0.81[CEU][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs17144752	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1860857	0.81[EUR][1000 genomes]
rs1968146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192020	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs2430028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430029	0.94[ASN][1000 genomes]
rs2430048	0.88[EUR][1000 genomes]
rs2471181	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2471182	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2471191	1.00[JPT][hapmap]
rs2471194	0.81[CEU][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs2471202	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs2471206	0.81[EUR][1000 genomes]
rs4727944	0.88[EUR][1000 genomes]
rs73220284	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220288	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793961	0.81[CEU][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs7794897	0.89[EUR][1000 genomes]
rs7797968	0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs986999	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv817238	chr7:122325864-122371594	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122320800-122329400	Weak transcription	Fetal Intestine Small	intestine
2	chr7:122322400-122329200	Weak transcription	Gastric	stomach
3	chr7:122322600-122328400	Weak transcription	HepG2	liver
4	chr7:122323200-122328600	Weak transcription	Pancreas	Pancrea
5	chr7:122324000-122331600	Weak transcription	Lung	lung
6	chr7:122324000-122336000	Weak transcription	Right Atrium	heart
7	chr7:122324200-122336000	Weak transcription	Fetal Lung	lung
8	chr7:122325200-122327800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:122325200-122327800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:122325200-122327800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:122325200-122329000	Enhancers	Fetal Heart	heart
12	chr7:122325600-122328400	Weak transcription	Stomach Mucosa	stomach
13	chr7:122325600-122329600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:122327000-122328400	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:122327000-122328400	Weak transcription	Left Ventricle	heart
16	chr7:122327000-122329600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:122327600-122328600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:122327600-122329600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:122327600-122332200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:122327600-122332600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:122327600-122336000	Weak transcription	H9 Cell Line	embryonic stem cell

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