Variant report

Variant	rs1477005
Chromosome Location	chr2:40611804-40611805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10165478	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171704	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10177941	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10178405	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10181006	0.90[ASN][1000 genomes]
rs10181007	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10189274	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10192458	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11691852	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12471797	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12613022	0.82[ASN][1000 genomes]
rs12996962	0.84[ASN][1000 genomes]
rs13017968	0.84[ASN][1000 genomes]
rs13022231	0.81[ASN][1000 genomes]
rs13031340	0.83[ASN][1000 genomes]
rs13031441	0.84[ASN][1000 genomes]
rs1477002	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477004	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861293	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2192773	0.91[ASN][1000 genomes]
rs2192776	0.98[ASN][1000 genomes]
rs2192779	0.95[ASN][1000 genomes]
rs2373857	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2373859	0.90[ASN][1000 genomes]
rs2888676	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4446101	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4452199	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4452200	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4552227	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4588235	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4645043	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952409	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6544333	0.86[ASN][1000 genomes]
rs6544334	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6718322	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6745881	0.90[ASN][1000 genomes]
rs6747285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7424049	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7574340	0.88[ASN][1000 genomes]
rs7598561	0.83[ASN][1000 genomes]
rs7599953	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs918002	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9309055	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967351	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs981739	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs984707	0.94[AMR][1000 genomes];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:21 , 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	chr2:40609600-40621800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:40609800-40612200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:40610000-40619000	Weak transcription	Dnd41	blood
8	chr2:40611000-40612600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:40611000-40612800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:40611000-40613600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:40611200-40612400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:40611200-40612600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:40611200-40612800	Enhancers	Fetal Heart	heart
14	chr2:40611200-40613000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr2:40611400-40612600	Enhancers	NHDF-Ad	bronchial
16	chr2:40611400-40613000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:40611400-40616200	Weak transcription	Left Ventricle	heart
18	chr2:40611600-40612400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:40611600-40612400	Enhancers	Hela-S3	cervix
20	chr2:40611600-40612600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:40611600-40612600	Enhancers	Osteobl	bone

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