Variant report

Variant	rs17885120
Chromosome Location	chr11:67158015-67158016
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67157886-67158015	HepG2	liver:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67157781..67159663-chr11:67396161..67398201,2	K562	blood:
2	chr11:67157917..67161280-chr11:67271512..67274163,3	MCF-7	breast:
3	chr11:67157842..67160719-chr11:67374445..67376408,2	MCF-7	breast:
4	chr11:67138430..67143112-chr11:67157518..67161987,7	K562	blood:
5	chr11:67157021..67160587-chr11:67222667..67225674,3	MCF-7	breast:
6	chr11:67116454..67122701-chr11:67156914..67162562,7	K562	blood:
7	chr11:67070778..67073065-chr11:67157993..67159732,2	MCF-7	breast:
8	chr11:67056152..67057908-chr11:67157420..67159394,2	MCF-7	breast:
9	chr11:67119550..67122032-chr11:67157152..67158939,3	K562	blood:
10	chr11:67157498..67160851-chr11:67271704..67276538,6	K562	blood:
11	chr11:67156232..67161608-chr11:67271298..67276147,11	MCF-7	breast:
12	chr11:67007543..67009511-chr11:67157117..67159458,2	K562	blood:
13	chr11:67156700..67160978-chr11:67234255..67237148,8	MCF-7	breast:
14	chr11:67149260..67151684-chr11:67155288..67159086,4	K562	blood:
15	chr11:67140774..67143112-chr11:67157579..67159214,2	K562	blood:

No data

Variant related genes	Relation type
RAD9A	TF binding region
ENSG00000175505	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000167799	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17882894	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17882925	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2422488	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364247	1.00[AMR][1000 genomes]
rs61743296	1.00[AMR][1000 genomes]
rs61746685	1.00[AMR][1000 genomes]
rs7123483	1.00[AMR][1000 genomes]
rs7926020	1.00[AMR][1000 genomes]
rs7951800	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67145200-67158400	Weak transcription	Right Atrium	heart
2	chr11:67147200-67158600	Weak transcription	Lung	lung
3	chr11:67147400-67158200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:67150200-67158200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:67150200-67158400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:67150200-67158600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:67150200-67158600	Weak transcription	Ovary	ovary
8	chr11:67152400-67158400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:67153000-67158200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:67153000-67158200	Weak transcription	Brain Anterior Caudate	brain
11	chr11:67153000-67158200	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:67153000-67158200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:67153000-67158200	Weak transcription	HSMMtube	muscle
14	chr11:67153000-67158400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:67153000-67158400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:67153000-67158400	Weak transcription	Left Ventricle	heart
17	chr11:67153000-67158400	Weak transcription	HSMM	muscle
18	chr11:67153000-67158400	Weak transcription	NHDF-Ad	bronchial
19	chr11:67153000-67158400	Weak transcription	NHLF	lung
20	chr11:67153000-67158600	Weak transcription	Brain Angular Gyrus	brain
21	chr11:67153000-67158600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:67153200-67158200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:67153200-67158200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:67153200-67158400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:67153200-67158400	Weak transcription	Fetal Brain Male	brain
26	chr11:67153200-67158400	Weak transcription	Osteobl	bone
27	chr11:67153400-67158200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:67154200-67158400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:67154800-67158200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:67154800-67158400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:67155000-67158200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:67155000-67158200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:67155000-67158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:67155000-67158600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:67155000-67158600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:67155200-67158200	Weak transcription	Fetal Stomach	stomach
37	chr11:67155200-67158200	Weak transcription	Thymus	Thymus
38	chr11:67155200-67158200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:67155200-67158400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:67155200-67158400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:67155200-67158400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:67155200-67158600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:67155400-67158400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:67155400-67158600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:67156600-67158200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr11:67156600-67158400	Enhancers	Colonic Mucosa	Colon
47	chr11:67156600-67158400	Enhancers	HepG2	liver
48	chr11:67156800-67158200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr11:67156800-67158200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:67156800-67158400	Enhancers	Pancreas	Pancrea

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