Variant report

Variant	rs6718322
Chromosome Location	chr2:40611209-40611210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10165478	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10171704	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10177941	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10178405	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181006	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10181007	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10189274	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192458	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11691852	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12471797	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12613022	0.81[ASN][1000 genomes]
rs12996962	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13017968	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13022231	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13031340	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13031441	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13032770	0.86[AMR][1000 genomes]
rs1477002	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477004	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477005	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861293	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2192773	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2192776	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2192779	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2373857	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2373859	0.91[ASN][1000 genomes]
rs2888676	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4446101	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4452199	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4452200	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4552227	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4588235	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4645043	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4952409	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6544333	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6544334	0.88[ASN][1000 genomes]
rs6745881	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6747285	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424049	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7574340	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7598561	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7599953	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918002	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9309055	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs967351	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs981739	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs984707	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1804767	chr2:40601179-40615520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv1805808	chr2:40601179-40615520	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1805510	chr2:40604270-40615520	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1813430	chr2:40604270-40615520	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40601000-40621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:40608400-40622000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:40608800-40612400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:40609200-40612200	Weak transcription	HSMM	muscle
5	chr2:40609400-40611400	Weak transcription	NHDF-Ad	bronchial
6	chr2:40609600-40621800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:40609800-40612200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:40610000-40619000	Weak transcription	Dnd41	blood
9	chr2:40610800-40611400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:40611000-40611400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:40611000-40611400	Enhancers	Left Ventricle	heart
12	chr2:40611000-40611400	Enhancers	Small Intestine	intestine
13	chr2:40611000-40611600	Enhancers	HMEC	breast
14	chr2:40611000-40611800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:40611000-40612600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:40611000-40612800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:40611000-40613600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:40611200-40611400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:40611200-40611600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:40611200-40611600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:40611200-40612400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:40611200-40612600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:40611200-40612800	Enhancers	Fetal Heart	heart
24	chr2:40611200-40613000	Enhancers	Primary neutrophils fromperipheralblood	blood

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