Variant report

Variant	rs8791
Chromosome Location	chr19:56185763-56185764
allele	A/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	chr19:56185580-56185779	GM12878	blood:	n/a	n/a
2	MAZ	chr19:56185625-56187879	IMR90	lung:	n/a	n/a
3	POLR2A	chr19:56184849-56186152	HL-60	blood:	n/a	n/a
4	POLR2A	chr19:56185595-56187287	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:56185597-56185809	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:56185604-56186939	GM12892	blood:	n/a	n/a
7	POLR2A	chr19:56185589-56187693	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr19:56185658-56187111	Hela-S3	cervix:	n/a	n/a
9	HCFC1	chr19:56185639-56187350	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr19:56185740-56185890	HUVEC	blood vessel:	n/a	n/a
11	SP1	chr19:56185489-56186102	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:56185652-56187179	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:56185613-56187158	GM12891	blood:	n/a	n/a
14	POLR2A	chr19:56185739-56187205	A549	lung:	n/a	n/a
15	POLR2A	chr19:56185507-56187227	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:56185664-56187793	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr19:56185656-56186978	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr19:56185622-56187312	K562	blood:	n/a	n/a
19	POLR2A	chr19:56185621-56187334	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:56185523-56187118	K562	blood:	n/a	n/a
21	POLR2A	chr19:56185716-56186997	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:56185645-56187033	SK-N-MC	brain:	n/a	n/a
23	ZBTB7A	chr19:56184796-56185884	K562	blood:	n/a	n/a
24	POLR2A	chr19:56185570-56187206	GM12892	blood:	n/a	n/a
25	POLR2A	chr19:56185699-56186763	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:56185761-56187676	GM12891	blood:	n/a	n/a
27	POLR2A	chr19:56185541-56187012	GM12892	blood:	n/a	n/a
28	REST	chr19:56185572-56186047	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr19:56185621-56186813	K562	blood:	n/a	n/a
30	POLR2A	chr19:56185615-56185906	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr19:56185745-56187135	GM19193	blood:	n/a	n/a
32	POLR2A	chr19:56185517-56186989	K562	blood:	n/a	n/a
33	POLR2A	chr19:56185652-56187081	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr19:56185610-56187159	PFSK-1	brain:	n/a	n/a
35	ZBTB7A	chr19:56184893-56185982	K562	blood:	n/a	n/a
36	MAZ	chr19:56184916-56185833	K562	blood:	n/a	chr19:56185192-56185202
37	POLR2A	chr19:56185617-56185864	H1-hESC	embryonic stem cell:	n/a	n/a
38	BCL3	chr19:56185716-56186845	A549	lung:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186182-56186195 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186189-56186202 chr19:56186657-56186670
39	POLR2A	chr19:56185687-56186865	K562	blood:	n/a	n/a
40	POLR2A	chr19:56185740-56186093	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
2	chr19:56185642..56190165-chr19:56193908..56196750,4	MCF-7	breast:
3	chr19:56185115..56186636-chr21:46236479..46238156,2	MCF-7	breast:
4	chr19:55986321..55989143-chr19:56184299..56186966,2	K562	blood:
5	chr19:56114907..56116947-chr19:56184542..56187154,2	K562	blood:
6	chr19:56158129..56161096-chr19:56185326..56187791,3	MCF-7	breast:

Variant related genes	Relation type
EPN1	TF binding region
ENSG00000063244	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000211571	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs310436	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs310475	0.83[YRI][hapmap]
rs4801265	0.82[CHB][hapmap]
rs485152	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs504850	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs664684	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs7247677	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7249837	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs889092	0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
6	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3406564	chr19:56184365-56186913	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv3337861	chr19:56185190-56186188	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv522559	chr19:56185250-56190815	Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
2	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
3	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
4	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
5	chr19:56172600-56186000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:56175800-56186000	Weak transcription	Fetal Kidney	kidney
7	chr19:56178000-56185800	Weak transcription	HSMMtube	muscle
8	chr19:56178600-56185800	Weak transcription	Fetal Brain Male	brain
9	chr19:56181600-56185800	Genic enhancers	Liver	Liver
10	chr19:56182000-56185800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:56182000-56185800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:56182000-56185800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:56182000-56185800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:56182000-56185800	Strong transcription	Fetal Intestine Large	intestine
15	chr19:56182000-56185800	Strong transcription	Fetal Intestine Small	intestine
16	chr19:56182000-56185800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:56182000-56185800	Weak transcription	Stomach Mucosa	stomach
18	chr19:56182000-56185800	Strong transcription	Thymus	Thymus
19	chr19:56182000-56185800	Weak transcription	HMEC	breast
20	chr19:56182000-56185800	Weak transcription	NHDF-Ad	bronchial
21	chr19:56182000-56186000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:56182000-56186000	Weak transcription	Left Ventricle	heart
23	chr19:56182200-56185800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:56182200-56185800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:56182400-56185800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:56182400-56185800	Weak transcription	Brain Angular Gyrus	brain
27	chr19:56182400-56185800	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:56182400-56185800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:56182400-56186200	Weak transcription	Aorta	Aorta
30	chr19:56182600-56185800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:56182600-56185800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:56182600-56185800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr19:56183000-56186000	Weak transcription	Primary B cells from cord blood	blood
34	chr19:56183000-56186000	Weak transcription	Ovary	ovary
35	chr19:56183000-56186200	Weak transcription	Small Intestine	intestine
36	chr19:56183200-56186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:56183200-56186200	Weak transcription	Gastric	stomach
38	chr19:56183200-56186200	Weak transcription	Pancreas	Pancrea
39	chr19:56183400-56185800	Weak transcription	Right Ventricle	heart
40	chr19:56183800-56185800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:56184000-56185800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:56184200-56185800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:56184200-56185800	Strong transcription	Esophagus	oesophagus
44	chr19:56184200-56185800	Weak transcription	HUVEC	blood vessel
45	chr19:56184400-56185800	Genic enhancers	HepG2	liver
46	chr19:56184600-56185800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:56184600-56185800	Strong transcription	Primary T cells from cord blood	blood
48	chr19:56184600-56185800	Enhancers	NH-A	brain
49	chr19:56184800-56185800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
50	chr19:56184800-56185800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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