Variant report

Variant	rs3016262
Chromosome Location	chr11:57425361-57425362
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57242576..57245304-chr11:57423792..57425526,2	MCF-7	breast:
2	chr11:57335100..57336885-chr11:57425174..57426738,2	K562	blood:
3	chr11:57423095..57430151-chr11:57432283..57438412,24	K562	blood:
4	chr11:57425106..57425704-chr16:87425253..87426005,2	Hela-S3	cervix:
5	chr11:57423375..57427275-chr11:57433374..57437610,8	MCF-7	breast:
6	chr11:57423749..57426682-chr11:57508630..57510179,2	K562	blood:
7	chr11:57194115..57196219-chr11:57423627..57426056,2	K562	blood:
8	chr11:57333149..57335001-chr11:57423752..57425633,2	MCF-7	breast:
9	chr11:57414343..57418921-chr11:57423216..57427343,7	K562	blood:
10	chr11:57417074..57418991-chr11:57424889..57426673,2	K562	blood:
11	chr11:57424563..57426708-chr11:57434107..57436084,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254732	Chromatin interaction
ENSG00000156587	Chromatin interaction
ENSG00000140941	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000254602	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000255301	Chromatin interaction
ENSG00000166793	Chromatin interaction
ENSG00000103264	Chromatin interaction
ENSG00000134802	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10160797	1.00[AMR][1000 genomes]
rs12282980	1.00[AMR][1000 genomes]
rs1941721	0.89[AFR][1000 genomes]
rs2911725	0.89[AFR][1000 genomes]
rs2926660	0.89[AFR][1000 genomes]
rs2926663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2956980	0.90[AFR][1000 genomes]
rs2956983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2956984	0.82[AFR][1000 genomes]
rs2969941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969942	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969945	0.89[AFR][1000 genomes]
rs3016261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016263	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs600251	0.89[AFR][1000 genomes]
rs603420	0.89[AFR][1000 genomes]
rs610801	0.89[AFR][1000 genomes]
rs621683	0.85[AFR][1000 genomes]
rs621731	0.85[AFR][1000 genomes]
rs635536	0.85[AFR][1000 genomes]
rs660400	0.89[AFR][1000 genomes]
rs682785	0.85[AFR][1000 genomes]
rs686303	0.84[AFR][1000 genomes]
rs7127878	1.00[AMR][1000 genomes]
rs7939745	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS 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	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh 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	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57424200-57425600	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:57424400-57425600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:57424400-57425600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:57424400-57425800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:57424400-57426000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:57424400-57426000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr11:57424400-57426000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:57424400-57426000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr11:57424400-57426000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr11:57424400-57426400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:57424600-57425400	Active TSS	Primary T cells from cord blood	blood
12	chr11:57424600-57425600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:57424600-57425600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:57424600-57425600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr11:57424600-57425600	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr11:57424600-57425600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:57424600-57425600	Active TSS	Brain Angular Gyrus	brain
18	chr11:57424600-57425600	Active TSS	Brain Anterior Caudate	brain
19	chr11:57424600-57425600	Active TSS	Brain Germinal Matrix	brain
20	chr11:57424600-57425600	Active TSS	Brain Hippocampus Middle	brain
21	chr11:57424600-57425600	Active TSS	Colon Smooth Muscle	Colon
22	chr11:57424600-57425600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr11:57424600-57425600	Active TSS	Fetal Brain Male	brain
24	chr11:57424600-57425600	Active TSS	Fetal Brain Female	brain
25	chr11:57424600-57425600	Active TSS	Fetal Kidney	kidney
26	chr11:57424600-57425600	Active TSS	Fetal Lung	lung
27	chr11:57424600-57425600	Active TSS	Placenta Amnion	Placenta Amnion
28	chr11:57424600-57425800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:57424600-57425800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:57424600-57425800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:57424600-57425800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr11:57424600-57425800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:57424600-57425800	Active TSS	Aorta	Aorta
34	chr11:57424600-57425800	Active TSS	Esophagus	oesophagus
35	chr11:57424600-57425800	Active TSS	Fetal Intestine Large	intestine
36	chr11:57424600-57425800	Active TSS	Fetal Intestine Small	intestine
37	chr11:57424600-57425800	Active TSS	Left Ventricle	heart
38	chr11:57424600-57425800	Active TSS	Pancreas	Pancrea
39	chr11:57424600-57425800	Active TSS	HSMMtube	muscle
40	chr11:57424600-57426000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:57424600-57426000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr11:57424600-57426000	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr11:57424600-57426000	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:57424600-57426000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:57424600-57426000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr11:57424600-57426000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr11:57424600-57426000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:57424600-57426000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:57424600-57426000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:57424600-57426000	Active TSS	Colonic Mucosa	Colon

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