Variant report

Variant	rs11083591
Chromosome Location	chr19:41428881-41428882
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41428834-41428947	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41220910..41226186-chr19:41426409..41429163,5	MCF-7	breast:
2	chr19:41303143..41305588-chr19:41428304..41431722,3	MCF-7	breast:

Variant related genes	Relation type
CYP2B7P	TF binding region
ENSG00000086544	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000123815	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11083592	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11668869	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668870	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248682	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv3337314	chr19:41388910-41534583	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv437830	chr19:41408746-41515702	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv437831	chr19:41416072-41524087	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41426200-41429800	Enhancers	Stomach Mucosa	stomach
2	chr19:41426400-41429600	Enhancers	Ovary	ovary
3	chr19:41426400-41430200	Enhancers	Fetal Intestine Large	intestine
4	chr19:41426400-41430200	Enhancers	Fetal Intestine Small	intestine
5	chr19:41426600-41429000	Enhancers	K562	blood
6	chr19:41426600-41429600	Enhancers	Liver	Liver
7	chr19:41427000-41429200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:41427600-41429800	Weak transcription	Pancreas	Pancrea
9	chr19:41428000-41429000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr19:41428000-41430200	Weak transcription	Hela-S3	cervix
11	chr19:41428000-41430800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr19:41428200-41429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:41428200-41429000	Enhancers	A549	lung
14	chr19:41428200-41429600	Weak transcription	Colonic Mucosa	Colon
15	chr19:41428200-41429800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:41428200-41430200	Weak transcription	Lung	lung
17	chr19:41428400-41429000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:41428400-41429600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr19:41428400-41429600	Weak transcription	Gastric	stomach
20	chr19:41428400-41430200	Weak transcription	Placenta	Placenta

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