Variant report

Variant	rs4720376
Chromosome Location	chr7:40848559-40848560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1013575	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1013576	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10486815	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1160778	1.00[AFR][1000 genomes]
rs11981180	1.00[CHD][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12531154	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12531482	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12531846	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12532716	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12532916	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12534371	1.00[AFR][1000 genomes]
rs12534713	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12534734	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12536716	1.00[AFR][1000 genomes]
rs12538260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12538963	1.00[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12539159	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540647	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540736	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171765	1.00[EUR][1000 genomes]
rs17171779	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171781	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171782	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17714132	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17714215	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17714523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17714657	1.00[AFR][1000 genomes]
rs17770820	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1921751	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1990190	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2079507	1.00[AFR][1000 genomes]
rs2302027	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35105954	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4720372	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720374	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4720375	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4720382	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4720383	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4723975	1.00[EUR][1000 genomes]
rs4723981	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs723837	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7781779	1.00[EUR][1000 genomes]
rs7794957	1.00[EUR][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	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	nsv830973	chr7:40816419-40851594	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40843600-40850000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:40844200-40848600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:40844400-40850600	Enhancers	HSMM	muscle
4	chr7:40844600-40850400	Enhancers	HSMMtube	muscle
5	chr7:40845000-40849600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:40845400-40850000	Enhancers	NHDF-Ad	bronchial
7	chr7:40846400-40849200	Enhancers	Primary B cells from cord blood	blood
8	chr7:40846400-40850000	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:40846600-40850200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:40847000-40848600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:40847000-40849200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:40847000-40849800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:40847000-40849800	Enhancers	Osteobl	bone
14	chr7:40847400-40848600	Enhancers	NHLF	lung
15	chr7:40847600-40848800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:40847800-40848600	Enhancers	Aorta	Aorta
17	chr7:40847800-40848600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr7:40847800-40848800	Enhancers	Hela-S3	cervix
19	chr7:40847800-40848800	Enhancers	HMEC	breast
20	chr7:40847800-40849000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:40848200-40849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:40848400-40848800	Flanking Active TSS	NH-A	brain

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