Variant report

Variant	rs2280331
Chromosome Location	chr11:45923697-45923698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10838530	0.85[JPT][hapmap]
rs10838531	0.91[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11038706	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11038761	0.81[LWK][hapmap]
rs1132349	0.88[ASN][1000 genomes]
rs11600112	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2271847	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3802758	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[ASN][1000 genomes]
rs7109981	0.86[ASN][1000 genomes]
rs7115790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7124323	0.81[ASN][1000 genomes]
rs7925824	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs867813	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs939108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv1805505	chr11:45912324-45956109	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1807609	chr11:45915859-45940195	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45921400-45933000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:45921600-45931400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:45922200-45931800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:45922400-45934800	Weak transcription	A549	lung
5	chr11:45922600-45923800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:45922600-45924200	Weak transcription	Lung	lung
7	chr11:45922600-45925800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:45922600-45929400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:45922600-45930600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:45922600-45930800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:45922600-45931400	Weak transcription	Aorta	Aorta
12	chr11:45922600-45932400	Weak transcription	Hela-S3	cervix
13	chr11:45922600-45932400	Weak transcription	Osteobl	bone
14	chr11:45922600-45934400	Weak transcription	HMEC	breast
15	chr11:45922600-45938400	Weak transcription	Fetal Kidney	kidney
16	chr11:45922800-45926000	Weak transcription	NHLF	lung
17	chr11:45922800-45928600	Weak transcription	Esophagus	oesophagus
18	chr11:45922800-45930000	Weak transcription	Left Ventricle	heart
19	chr11:45922800-45930400	Weak transcription	Liver	Liver
20	chr11:45923000-45923800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:45923000-45923800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:45923000-45923800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr11:45923000-45924000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:45923000-45924000	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
25	chr11:45923000-45924200	Weak transcription	Right Ventricle	heart
26	chr11:45923000-45924200	Weak transcription	Spleen	Spleen
27	chr11:45923000-45924400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:45923000-45924400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:45923000-45924600	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr11:45923000-45924800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:45923000-45924800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:45923000-45924800	Weak transcription	Adipose Nuclei	Adipose
33	chr11:45923000-45925000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:45923000-45927600	Weak transcription	Colonic Mucosa	Colon
35	chr11:45923000-45930600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:45923000-45938000	Weak transcription	NHDF-Ad	bronchial
37	chr11:45923000-45938400	Weak transcription	Right Atrium	heart
38	chr11:45923200-45923800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:45923200-45923800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:45923200-45923800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
41	chr11:45923200-45923800	Genic enhancers	Fetal Muscle Leg	muscle
42	chr11:45923200-45924200	Weak transcription	Gastric	stomach
43	chr11:45923200-45924400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:45923200-45924400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:45923200-45924800	Weak transcription	HSMMtube	muscle
46	chr11:45923200-45925600	Weak transcription	K562	blood
47	chr11:45923200-45927800	Strong transcription	Ovary	ovary
48	chr11:45923200-45931200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr11:45923200-45932200	Weak transcription	HSMM	muscle
50	chr11:45923200-45935600	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links