Variant report

Variant	rs331457
Chromosome Location	chr11:36523612-36523613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36328951..36330934-chr11:36522654..36524695,2	K562	blood:
2	chr11:36510096..36512978-chr11:36521901..36524593,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1046864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836567	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033641	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033644	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033647	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033650	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033651	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2201845	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs2303439	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs331459	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331463	0.88[EUR][1000 genomes]
rs44883	0.83[CEU][hapmap]
rs4755453	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs502243	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030403	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5030409	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5030437	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs5030445	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs5030470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030472	0.91[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs5030482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5030485	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5030486	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs540386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552140	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109169	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7111402	0.83[CEU][hapmap]
rs7127484	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs792239	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7927299	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs981981	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs981982	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
2	chr11:36504400-36524000	Weak transcription	Stomach Mucosa	stomach
3	chr11:36507400-36524800	Weak transcription	Psoas Muscle	Psoas
4	chr11:36508800-36530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:36510000-36525600	Strong transcription	Fetal Thymus	thymus
6	chr11:36510400-36523800	Strong transcription	Primary B cells from cord blood	blood
7	chr11:36510600-36524600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:36510600-36525400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr11:36511000-36526000	Strong transcription	Dnd41	blood
10	chr11:36512200-36530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:36512400-36525000	Weak transcription	Spleen	Spleen
12	chr11:36512400-36529800	Weak transcription	Colonic Mucosa	Colon
13	chr11:36513800-36524200	Weak transcription	Pancreas	Pancrea
14	chr11:36513800-36529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:36513800-36530000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:36513800-36530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:36513800-36530400	Weak transcription	Lung	lung
18	chr11:36514000-36529600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:36514000-36530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:36514000-36530800	Weak transcription	Small Intestine	intestine
21	chr11:36516800-36524000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:36517400-36523800	Strong transcription	Primary T cells from cord blood	blood
23	chr11:36518000-36530400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:36519000-36529800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:36520000-36525600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:36520200-36524400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:36520200-36527200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:36520200-36529600	Weak transcription	Fetal Kidney	kidney
29	chr11:36520200-36529800	Weak transcription	A549	lung
30	chr11:36520400-36525800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:36521200-36526000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:36521600-36523800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:36521600-36527000	Enhancers	Fetal Heart	heart
34	chr11:36521800-36524400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:36522000-36523800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:36522000-36524000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:36522000-36524200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:36522000-36525400	Enhancers	HSMMtube	muscle
39	chr11:36522000-36529600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:36522000-36530400	Weak transcription	Gastric	stomach
41	chr11:36522200-36523800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:36522200-36524000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:36522200-36524200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:36522200-36524600	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:36522200-36524800	Enhancers	Brain Angular Gyrus	brain
46	chr11:36522200-36524800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:36522200-36525200	Enhancers	Brain Substantia Nigra	brain
48	chr11:36522200-36525600	Weak transcription	K562	blood
49	chr11:36522200-36529600	Weak transcription	Brain Germinal Matrix	brain
50	chr11:36522200-36529800	Weak transcription	Hela-S3	cervix

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