Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:220049654..220055066-chr1:220079311..220085497,6	K562	blood:
2	chr1:220081392..220084316-chr1:220098102..220100494,2	K562	blood:
3	chr1:220070443..220076054-chr1:220076970..220083388,8	K562	blood:
4	chr1:220082601..220085803-chr1:220097043..220100830,4	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10863510	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10863511	0.83[ASN][1000 genomes]
rs11118467	0.82[EUR][1000 genomes]
rs1694592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1694593	0.92[EUR][1000 genomes]
rs1694594	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes]
rs1694595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes]
rs1776029	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1776043	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1776046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1776050	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1776052	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2275706	0.91[JPT][hapmap]
rs2275707	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378331	0.94[CEU][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2647439	0.81[EUR][1000 genomes]
rs6541114	0.85[EUR][1000 genomes]
rs6541115	0.84[ASN][1000 genomes]
rs6663638	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6663745	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7525274	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs947517	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1067840	chr1:219990803-220091941	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220077400-220086800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:220077400-220088400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:220077400-220088600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:220081200-220088000	Weak transcription	HepG2	liver
5	chr1:220081200-220088600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:220081400-220084000	Weak transcription	Liver	Liver
7	chr1:220083000-220084000	Genic enhancers	K562	blood

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