Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:119513257..119518482-chr3:119518835..119521864,6	K562	blood:
2	chr3:119514298..119516694-chr3:119519777..119521864,2	K562	blood:
3	chr3:119517996..119521176-chr3:119529183..119532892,4	MCF-7	breast:
4	chr3:119506500..119508290-chr3:119519426..119521149,2	MCF-7	breast:
5	chr3:119499565..119502247-chr3:119518347..119520866,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144852	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12721597	0.82[ASN][1000 genomes]
rs13323135	1.00[EUR][1000 genomes]
rs4687884	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4687885	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4687886	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4687887	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4688041	1.00[EUR][1000 genomes]
rs55907307	0.82[ASN][1000 genomes]
rs56155951	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59162145	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59953121	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60822858	0.82[ASN][1000 genomes]
rs61211594	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6438545	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6773295	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6775566	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72552100	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72554005	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72554006	0.82[ASN][1000 genomes]
rs72554009	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72554015	0.82[ASN][1000 genomes]
rs73854707	1.00[EUR][1000 genomes]
rs73854708	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73854714	0.82[ASN][1000 genomes]
rs9828996	0.82[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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119514400-119526800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:119515000-119526000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:119515400-119526000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:119515400-119527200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:119515400-119528600	Weak transcription	Colonic Mucosa	Colon
6	chr3:119515800-119527400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:119516800-119520600	Weak transcription	Fetal Intestine Large	intestine
8	chr3:119516800-119534600	Weak transcription	HepG2	liver
9	chr3:119519800-119521400	Enhancers	Liver	Liver
10	chr3:119520000-119520200	Weak transcription	Fetal Intestine Small	intestine

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