Variant report

Variant	rs10951639
Chromosome Location	chr7:40865303-40865304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1006376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10233069	0.96[CHB][hapmap];0.96[JPT][hapmap];0.93[ASN][1000 genomes]
rs10235458	0.83[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs10268219	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10272516	0.90[EUR][1000 genomes]
rs10276629	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs10279715	0.87[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs1029620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1029621	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1203569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203573	0.92[CEU][hapmap];0.84[CHB][hapmap];0.88[EUR][1000 genomes]
rs1203575	0.80[CHB][hapmap]
rs12701836	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12701837	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13243593	0.92[ASN][1000 genomes]
rs13246232	0.82[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs1733483	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs17770991	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1974547	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2108375	0.96[CHB][hapmap];0.96[JPT][hapmap];0.93[ASN][1000 genomes]
rs2108376	0.93[ASN][1000 genomes]
rs2302025	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2329877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34689844	0.93[ASN][1000 genomes]
rs35628600	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs35995194	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36200804	0.95[EUR][1000 genomes]
rs6462989	0.83[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs723838	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs763714	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv1827128	chr7:40862370-40886576	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3432435	chr7:40865069-40865643	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10951639	INHBA	cis	Nerve Tibial	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40855600-40866000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:40855800-40866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:40861200-40865600	Weak transcription	HSMMtube	muscle
4	chr7:40862200-40867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:40862200-40868200	Enhancers	HMEC	breast
6	chr7:40862800-40865800	Weak transcription	NH-A	brain
7	chr7:40863400-40866000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:40863400-40867800	Enhancers	NHEK	skin
9	chr7:40863600-40866600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:40863600-40867600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:40863800-40865400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:40863800-40866200	Enhancers	Osteobl	bone
13	chr7:40863800-40867400	Enhancers	Aorta	Aorta
14	chr7:40864000-40869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:40864000-40869600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:40864000-40871000	Enhancers	NHDF-Ad	bronchial
17	chr7:40864200-40865400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:40864200-40865800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:40864600-40866200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:40864800-40866600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:40865000-40865400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:40865000-40866000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:40865000-40866200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:40865000-40867600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:40865200-40865400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:40865200-40866800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:40865200-40866800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:40865200-40866800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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