Variant report

Variant	rs6821258
Chromosome Location	chr4:82030410-82030411
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:41)

rs_ID	r²[population]
rs10857207	0.86[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes]
rs1113771	0.91[JPT][hapmap]
rs11723204	0.82[GIH][hapmap];1.00[JPT][hapmap]
rs11731129	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11734476	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11737112	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1443538	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1443539	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1443540	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1443545	0.95[JPT][hapmap]
rs1517552	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17005059	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17005060	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17005062	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17005063	0.95[JPT][hapmap]
rs1838174	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1850499	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2028645	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2289682	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28604504	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2868134	0.91[JPT][hapmap]
rs2868139	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55846324	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55923509	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56142532	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58198023	0.81[ASN][1000 genomes]
rs59877644	0.92[EUR][1000 genomes]
rs60690485	0.85[ASN][1000 genomes]
rs61151552	0.85[ASN][1000 genomes]
rs66753456	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6831718	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6849436	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72871776	0.85[ASN][1000 genomes]
rs72871779	0.85[ASN][1000 genomes]
rs72871784	0.85[ASN][1000 genomes]
rs7656510	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7675843	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9685762	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs980721	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs980767	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs980768	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription 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	2 gene(s)	inside rSNPs	diseases
4	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82013000-82033200	Weak transcription	NHLF	lung
2	chr4:82025400-82051600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:82027800-82032600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:82028000-82032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:82028200-82035000	Weak transcription	NHDF-Ad	bronchial
6	chr4:82028200-82050600	Weak transcription	Fetal Intestine Large	intestine
7	chr4:82028600-82030800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:82029800-82031000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:82030000-82032800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:82030000-82051200	Weak transcription	Fetal Intestine Small	intestine
11	chr4:82030400-82032000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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