Variant report

Variant	rs3736149
Chromosome Location	chr11:105008415-105008416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10895769	0.86[ASN][1000 genomes]
rs10895770	0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10895786	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1483025	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503399	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1503400	0.88[ASN][1000 genomes]
rs1623342	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1628434	0.88[ASN][1000 genomes]
rs1630085	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1699073	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1699078	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs1699080	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1699081	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap]
rs1699082	0.82[ASN][1000 genomes]
rs1699083	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1699084	0.82[ASN][1000 genomes]
rs1699086	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.80[EUR][1000 genomes]
rs1699087	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1699088	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1699095	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1785864	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1785871	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1785872	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1785873	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1785876	0.81[EUR][1000 genomes]
rs1785878	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1785881	0.96[CEU][hapmap]
rs1785882	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1792752	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs1792753	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs1792755	0.82[EUR][1000 genomes]
rs1792756	0.81[EUR][1000 genomes]
rs1792757	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1792763	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs1792764	0.86[ASN][1000 genomes]
rs1792765	0.87[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs1792766	0.89[ASN][1000 genomes]
rs1792770	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792771	0.82[ASN][1000 genomes]
rs1792773	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1792777	0.83[EUR][1000 genomes]
rs1847293	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2062806	0.92[ASN][1000 genomes]
rs2174158	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2291269	0.82[CEU][hapmap]
rs2852987	0.83[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs4534547	0.90[ASN][1000 genomes]
rs4638280	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs484345	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs529809	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs531589	0.86[ASN][1000 genomes]
rs562441	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs572717	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7932543	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7934144	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv949337	chr11:104950007-105510193	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv975866	chr11:104994182-105034480	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3736149	CARD17	cis	Esophagus Mucosa	GTEx
rs3736149	BIRC2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105007200-105008800	Enhancers	Fetal Heart	heart
2	chr11:105007600-105008600	Enhancers	HMEC	breast
3	chr11:105007600-105009000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:105007600-105010600	Enhancers	NHEK	skin
5	chr11:105007800-105010600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:105008000-105010600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:105008000-105011200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:105008200-105008600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:105008400-105012000	Weak transcription	HUVEC	blood vessel

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