Variant report

Variant	rs17885191
Chromosome Location	chr11:67161702-67161703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67161640-67161846	GM12878	blood:	n/a	n/a
2	ZNF263	chr11:67161396-67161822	HEK293-T-REx	kidney:	n/a	n/a
3	POLR2A	chr11:67161358-67162043	K562	blood:	n/a	n/a
4	POLR2A	chr11:67161622-67161826	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:67161570-67161788	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:67161630-67162168	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:67160326..67163213-chr11:67229848..67232719,2	MCF-7	breast:
2	chr11:67161312..67163125-chr11:67265626..67268296,2	MCF-7	breast:
3	chr11:67159952..67162907-chr11:67231636..67233328,2	K562	blood:
4	chr11:67033658..67035636-chr11:67159466..67162456,3	MCF-7	breast:
5	chr11:67138430..67143112-chr11:67157518..67161987,7	K562	blood:
6	chr11:67158791..67161769-chr11:67261033..67263210,2	K562	blood:
7	chr11:67070042..67072610-chr11:67159168..67161895,3	MCF-7	breast:
8	chr11:67116454..67122701-chr11:67156914..67162562,7	K562	blood:
9	chr11:67019300..67021347-chr11:67159445..67161762,2	K562	blood:
10	chr11:67054211..67056226-chr11:67160780..67163309,2	MCF-7	breast:

No data

Variant related genes	Relation type
RAD9A	TF binding region
ENSG00000175482	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000172830	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11820536	1.00[AMR][1000 genomes]
rs11820615	0.84[AFR][1000 genomes]
rs11822066	1.00[AMR][1000 genomes]
rs11822907	1.00[AMR][1000 genomes]
rs11823597	1.00[AMR][1000 genomes]
rs11824480	1.00[AMR][1000 genomes]
rs11825218	1.00[AMR][1000 genomes]
rs11827571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827998	1.00[AMR][1000 genomes]
rs17881242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17881313	1.00[AMR][1000 genomes]
rs2229537	0.84[AFR][1000 genomes]
rs61759808	0.84[AFR][1000 genomes]
rs7949844	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
6	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
8	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
10	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
11	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
12	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
13	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
14	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
15	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
16	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
17	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
18	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67160000-67162000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:67160000-67163600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:67160000-67165000	Weak transcription	Aorta	Aorta
4	chr11:67160200-67162000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:67160200-67163000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:67160200-67165000	Weak transcription	Small Intestine	intestine
7	chr11:67160200-67166200	Weak transcription	Fetal Kidney	kidney
8	chr11:67160200-67167000	Weak transcription	Psoas Muscle	Psoas
9	chr11:67160400-67161800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr11:67160400-67161800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:67160400-67161800	Genic enhancers	Fetal Muscle Leg	muscle
12	chr11:67160400-67161800	Genic enhancers	Fetal Thymus	thymus
13	chr11:67160400-67162000	Strong transcription	NHLF	lung
14	chr11:67160400-67162600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:67160400-67162800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:67160400-67162800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:67160400-67162800	Weak transcription	Osteobl	bone
18	chr11:67160400-67163000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:67160400-67163000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:67160400-67163200	Weak transcription	Fetal Lung	lung
21	chr11:67160400-67163600	Weak transcription	Brain Angular Gyrus	brain
22	chr11:67160400-67163600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:67160400-67163800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:67160400-67164000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:67160400-67164000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:67160400-67164000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:67160400-67164000	Strong transcription	Thymus	Thymus
28	chr11:67160400-67164200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:67160400-67164200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:67160400-67164200	Weak transcription	HMEC	breast
31	chr11:67160400-67164200	Weak transcription	HUVEC	blood vessel
32	chr11:67160400-67164400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:67160400-67164800	Weak transcription	Left Ventricle	heart
34	chr11:67160400-67165000	Weak transcription	Stomach Mucosa	stomach
35	chr11:67160400-67165000	Weak transcription	NHDF-Ad	bronchial
36	chr11:67160400-67165200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:67160400-67165200	Weak transcription	HSMMtube	muscle
38	chr11:67160400-67165200	Weak transcription	NH-A	brain
39	chr11:67160400-67165400	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:67160400-67166600	Strong transcription	Brain Cingulate Gyrus	brain
41	chr11:67160400-67166800	Strong transcription	A549	lung
42	chr11:67160400-67167800	Weak transcription	Right Atrium	heart
43	chr11:67160600-67161800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:67160600-67161800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:67160600-67161800	Weak transcription	Adipose Nuclei	Adipose
46	chr11:67160600-67161800	Genic enhancers	Pancreas	Pancrea
47	chr11:67160600-67162000	Genic enhancers	Dnd41	blood
48	chr11:67160600-67162000	Strong transcription	K562	blood
49	chr11:67160600-67163000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:67160600-67164000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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