Variant report

Variant	rs12291694
Chromosome Location	chr11:65821674-65821675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
2	chr11:65815354..65817680-chr11:65821630..65823726,2	K562	blood:
3	chr11:65767679..65771369-chr11:65818165..65822112,6	MCF-7	breast:
4	chr11:65766270..65769793-chr11:65817988..65822487,7	MCF-7	breast:
5	chr11:65624197..65629461-chr11:65817994..65821738,6	K562	blood:
6	chr11:65429132..65431872-chr11:65817636..65822281,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172757	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000172732	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12288526	0.83[AFR][1000 genomes]
rs12291895	1.00[AFR][1000 genomes]
rs3814748	0.89[AFR][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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
3	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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	56 gene(s)	inside rSNPs	diseases
4	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv897770	chr11:65803750-65824472	Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr11:65820800-65822200	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr11:65820800-65822200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:65820800-65822600	Weak transcription	Aorta	Aorta
4	chr11:65820800-65827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:65821000-65821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:65821000-65821800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:65821000-65821800	Weak transcription	Spleen	Spleen
8	chr11:65821000-65822000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:65821000-65822000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:65821000-65822000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:65821000-65822000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr11:65821000-65822000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:65821000-65822000	Weak transcription	Brain Anterior Caudate	brain
14	chr11:65821000-65822000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:65821000-65822000	Weak transcription	Esophagus	oesophagus
16	chr11:65821000-65822000	Weak transcription	Gastric	stomach
17	chr11:65821000-65822000	Weak transcription	Left Ventricle	heart
18	chr11:65821000-65822000	Weak transcription	Pancreas	Pancrea
19	chr11:65821000-65822000	Weak transcription	Right Ventricle	heart
20	chr11:65821000-65822000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:65821000-65822000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:65821000-65822200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:65821000-65822200	Weak transcription	Fetal Kidney	kidney
24	chr11:65821000-65822200	Weak transcription	Small Intestine	intestine
25	chr11:65821000-65822800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:65821000-65823200	Genic enhancers	Liver	Liver
27	chr11:65821000-65825000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:65821000-65835600	Weak transcription	Right Atrium	heart
29	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:65821200-65821800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:65821200-65821800	Weak transcription	Lung	lung
33	chr11:65821200-65821800	Weak transcription	Thymus	Thymus
34	chr11:65821200-65821800	Enhancers	HepG2	liver
35	chr11:65821200-65821800	Weak transcription	K562	blood
36	chr11:65821200-65822000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:65821200-65822000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:65821200-65822000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:65821200-65822000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:65821200-65822000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:65821200-65822000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:65821200-65822000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:65821200-65822000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:65821200-65822000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:65821200-65822000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:65821200-65822000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:65821200-65822000	Weak transcription	Colonic Mucosa	Colon
48	chr11:65821200-65822000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:65821200-65822000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:65821200-65822000	Weak transcription	Rectal Smooth Muscle	rectum

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