Variant report

Variant	rs3011712
Chromosome Location	chr10:52245592-52245593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1203374	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203379	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203380	0.84[EUR][1000 genomes]
rs1203383	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203384	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203391	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203402	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203412	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203416	1.00[ASN][1000 genomes]
rs1203417	1.00[ASN][1000 genomes]
rs1203419	1.00[ASN][1000 genomes]
rs1203422	1.00[ASN][1000 genomes]
rs1203426	0.90[EUR][1000 genomes]
rs1203427	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1209146	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1211373	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064760	0.89[EUR][1000 genomes]
rs2208035	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474611	1.00[ASN][1000 genomes]
rs2574945	1.00[ASN][1000 genomes]
rs2574976	1.00[ASN][1000 genomes]
rs2688874	1.00[ASN][1000 genomes]
rs2688876	1.00[ASN][1000 genomes]
rs2688883	1.00[ASN][1000 genomes]
rs2688884	1.00[ASN][1000 genomes]
rs2842099	1.00[ASN][1000 genomes]
rs2842110	1.00[ASN][1000 genomes]
rs2983346	0.89[EUR][1000 genomes]
rs2983348	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983349	0.89[EUR][1000 genomes]
rs2983372	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011715	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011768	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011795	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72801753	1.00[ASN][1000 genomes]
rs7923756	1.00[ASN][1000 genomes]
rs910818	0.89[EUR][1000 genomes]
rs910819	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9416590	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52229800-52252000	Weak transcription	Aorta	Aorta
2	chr10:52230600-52256400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:52231200-52257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:52234000-52261600	Weak transcription	Pancreas	Pancrea
5	chr10:52234200-52246800	Weak transcription	Brain Anterior Caudate	brain
6	chr10:52237000-52250400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:52237800-52255000	Weak transcription	Liver	Liver
8	chr10:52237800-52261800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:52243800-52250000	Weak transcription	Fetal Lung	lung
10	chr10:52244400-52261800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:52244800-52261800	Weak transcription	Primary T cells from cord blood	blood
12	chr10:52244800-52262000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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