Variant report

Variant	rs72950059
Chromosome Location	chr11:36376028-36376029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11033551	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11033561	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11033562	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11033571	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11033574	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11603116	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11603868	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11605183	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1346119	0.88[ASN][1000 genomes]
rs72948137	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72950009	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72950011	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72950012	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72950014	0.84[EUR][1000 genomes]
rs72950015	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72950021	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72950042	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72950046	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72950047	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72950049	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72950054	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36364400-36381800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:36367400-36381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:36371400-36376200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:36371400-36376600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:36372000-36376200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:36373800-36376800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:36374000-36376600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr11:36374000-36376600	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:36374000-36376800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:36374200-36376400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr11:36374200-36377800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:36374200-36379400	Enhancers	Brain Substantia Nigra	brain
13	chr11:36374400-36376800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:36374600-36377000	Enhancers	NHEK	skin
15	chr11:36374800-36378400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:36374800-36382000	Weak transcription	Brain Anterior Caudate	brain
17	chr11:36375200-36376200	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:36375200-36377000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:36375200-36377200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:36375200-36378000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:36375400-36376800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:36375400-36376800	Enhancers	Fetal Intestine Small	intestine
23	chr11:36375400-36376800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:36375400-36376800	Flanking Active TSS	GM12878-XiMat	blood
25	chr11:36375400-36378800	Enhancers	Fetal Intestine Large	intestine
26	chr11:36375400-36379800	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:36375600-36376800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr11:36375600-36376800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:36375600-36377000	Enhancers	HMEC	breast
30	chr11:36375600-36377000	Enhancers	Osteobl	bone
31	chr11:36375600-36377400	Weak transcription	Spleen	Spleen
32	chr11:36375800-36376400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:36375800-36376400	Enhancers	Duodenum Mucosa	Duodenum
34	chr11:36375800-36376400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr11:36375800-36376600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:36375800-36376800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:36375800-36376800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:36375800-36376800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:36375800-36377000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:36375800-36377000	Enhancers	HSMM	muscle
41	chr11:36375800-36377000	Enhancers	NH-A	brain
42	chr11:36375800-36378600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:36376000-36376400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:36376000-36376800	Enhancers	NHDF-Ad	bronchial
45	chr11:36376000-36377000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr11:36376000-36381600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:36376000-36381600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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