Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209464916..209466714-chr1:209469839..209472080,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12064516	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12116965	0.92[EUR][1000 genomes]
rs12119349	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12119464	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12119465	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124710	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125098	1.00[CEU][hapmap]
rs12126305	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126769	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128640	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12135244	0.88[EUR][1000 genomes]
rs12136870	0.84[EUR][1000 genomes]
rs12137134	0.94[EUR][1000 genomes]
rs12137788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139847	0.88[EUR][1000 genomes]
rs12140172	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12140436	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12140751	0.82[EUR][1000 genomes]
rs12144443	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144663	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12144725	1.00[CEU][hapmap]
rs12145008	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145858	0.92[EUR][1000 genomes]
rs6668608	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74155466	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74155471	0.92[EUR][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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209460800-209466000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:209463600-209466000	Enhancers	Rectal Smooth Muscle	rectum
3	chr1:209464400-209465800	Enhancers	Colon Smooth Muscle	Colon
4	chr1:209464800-209465400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:209465000-209465800	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr1:209465000-209466200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:209465000-209466200	Enhancers	Dnd41	blood
8	chr1:209465000-209469200	Weak transcription	Fetal Stomach	stomach

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