Variant report

Variant	rs7951639
Chromosome Location	chr11:62274720-62274721
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62263349..62265762-chr11:62273214..62274854,2	K562	blood:
2	chr11:62270607..62282151-chr11:62305075..62317987,34	MCF-7	breast:
3	chr11:62274660..62277446-chr11:62443371..62446014,2	MCF-7	breast:
4	chr11:62274477..62276025-chr11:62276651..62278667,2	MCF-7	breast:
5	chr11:62274579..62277992-chr11:62305357..62311305,7	MCF-7	breast:
6	chr11:62274419..62276267-chr11:62285670..62288362,2	K562	blood:

Variant related genes	Relation type
ENSG00000124942	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000162191	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11231110	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11231120	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11231121	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11231128	0.89[EUR][1000 genomes]
rs11231130	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs11822224	1.00[CEU][hapmap]
rs11827029	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12281588	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281651	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291805	0.89[EUR][1000 genomes]
rs12292433	0.89[EUR][1000 genomes]
rs12294680	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17157332	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17157338	1.00[JPT][hapmap]
rs17157363	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs17157365	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4124	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs56234858	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61312994	0.89[EUR][1000 genomes]
rs61625484	0.89[EUR][1000 genomes]
rs7105793	0.86[EUR][1000 genomes]
rs7108380	0.95[EUR][1000 genomes]
rs7123692	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124044	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs7124130	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7127582	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7937521	0.95[EUR][1000 genomes]
rs7946258	1.00[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription 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	1401 gene(s)	inside rSNPs	diseases
5	nsv897621	chr11:62230309-62290170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62267000-62277400	Enhancers	Fetal Heart	heart
2	chr11:62267600-62275600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:62269400-62275800	Weak transcription	HMEC	breast
4	chr11:62269600-62275400	Weak transcription	Pancreas	Pancrea
5	chr11:62269800-62275800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:62270800-62275800	Weak transcription	Psoas Muscle	Psoas
7	chr11:62270800-62281600	Weak transcription	Liver	Liver
8	chr11:62271000-62276200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:62271200-62275600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:62271200-62275600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:62271200-62275800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:62271400-62275600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:62271400-62275600	Enhancers	A549	lung
14	chr11:62271800-62274800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:62271800-62275800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:62271800-62276000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:62271800-62277200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:62272000-62276400	Enhancers	Left Ventricle	heart
19	chr11:62272000-62277800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:62272800-62274800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:62272800-62275800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:62273000-62275800	Weak transcription	Spleen	Spleen
23	chr11:62273000-62275800	Weak transcription	NHLF	lung
24	chr11:62273200-62275200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:62273200-62275400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:62273200-62275600	Weak transcription	Stomach Mucosa	stomach
27	chr11:62273200-62275600	Enhancers	K562	blood
28	chr11:62273200-62275800	Weak transcription	Brain Substantia Nigra	brain
29	chr11:62273200-62275800	Weak transcription	Fetal Lung	lung
30	chr11:62273200-62276400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:62273200-62277400	Enhancers	Placenta	Placenta
32	chr11:62273400-62274800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:62273400-62274800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:62273400-62275400	Weak transcription	Brain Anterior Caudate	brain
35	chr11:62273400-62275600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:62273400-62275600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:62273400-62275600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:62273400-62275600	Enhancers	Brain Hippocampus Middle	brain
39	chr11:62273400-62275600	Enhancers	Colon Smooth Muscle	Colon
40	chr11:62273400-62275600	Weak transcription	HUVEC	blood vessel
41	chr11:62273400-62275800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:62273400-62275800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:62273400-62275800	Weak transcription	NHDF-Ad	bronchial
44	chr11:62273400-62275800	Weak transcription	Osteobl	bone
45	chr11:62273400-62276000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:62273400-62280600	Weak transcription	Aorta	Aorta
47	chr11:62273600-62274800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:62273600-62274800	Enhancers	Right Atrium	heart
49	chr11:62273600-62275000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr11:62273600-62275400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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