Variant report

Variant	rs12701837
Chromosome Location	chr7:40855720-40855721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1006376	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10225209	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10225445	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10226900	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10231324	0.93[ASN][1000 genomes]
rs10231545	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10243080	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10252053	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10268219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272186	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs10272516	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10276001	0.92[ASN][1000 genomes]
rs10276629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1029620	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10951639	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1115714	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1115715	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1203569	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1203570	0.81[EUR][1000 genomes]
rs1203573	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs1203575	0.81[EUR][1000 genomes]
rs12666544	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs12701835	0.93[ASN][1000 genomes]
rs12701836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237870	0.94[ASN][1000 genomes]
rs13240894	0.89[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1733483	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs17530165	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs17530213	0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs17621030	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs17688285	0.93[ASN][1000 genomes]
rs17688414	0.94[ASN][1000 genomes]
rs17770843	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs17770991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921743	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1921745	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1921746	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1921747	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1921748	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1974547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302026	0.84[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2329877	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs35146091	0.94[ASN][1000 genomes]
rs35570092	0.94[ASN][1000 genomes]
rs35628600	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35712272	0.94[ASN][1000 genomes]
rs35995194	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs36200804	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3815265	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4050963	0.93[ASN][1000 genomes]
rs4460274	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs59027414	0.82[ASN][1000 genomes]
rs62449401	0.94[ASN][1000 genomes]
rs62449405	0.85[ASN][1000 genomes]
rs62449407	0.85[ASN][1000 genomes]
rs68023334	0.94[ASN][1000 genomes]
rs723838	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs73125791	0.85[ASN][1000 genomes]
rs763714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7784052	0.84[ASN][1000 genomes]
rs7801192	0.93[ASN][1000 genomes]
rs7804009	0.94[ASN][1000 genomes]
rs7807596	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7808211	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs886831	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830972	chr7:40814709-40945917	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12701837	INHBA	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40854600-40855800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:40854600-40856400	Enhancers	NHDF-Ad	bronchial
3	chr7:40854800-40855800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:40854800-40855800	Enhancers	Esophagus	oesophagus
5	chr7:40854800-40855800	Enhancers	NHLF	lung
6	chr7:40854800-40856000	ZNF genes & repeats	HSMM	muscle
7	chr7:40855000-40855800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:40855000-40855800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:40855000-40856200	Flanking Active TSS	NHEK	skin
10	chr7:40855000-40856400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:40855000-40856400	Flanking Active TSS	HMEC	breast
12	chr7:40855200-40855800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:40855200-40856000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:40855200-40856200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:40855200-40856200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:40855200-40864000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:40855400-40856200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:40855600-40855800	Enhancers	HSMMtube	muscle
19	chr7:40855600-40856000	Enhancers	Osteobl	bone
20	chr7:40855600-40862400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:40855600-40866000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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