Variant report

Variant	rs330261
Chromosome Location	chr11:36422792-36422793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10836550	0.84[CEU][hapmap];0.92[GIH][hapmap]
rs10836552	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs10836553	0.84[CEU][hapmap];0.85[CHB][hapmap];0.85[YRI][hapmap]
rs11033596	0.84[CEU][hapmap];0.92[GIH][hapmap];0.80[YRI][hapmap]
rs11033597	0.84[CEU][hapmap];0.92[GIH][hapmap];0.80[YRI][hapmap]
rs12274403	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs12785381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12789455	1.00[CHD][hapmap]
rs12801831	0.84[CEU][hapmap]
rs12802487	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1895838	0.83[CEU][hapmap]
rs1895840	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2592557	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs330262	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs330264	0.84[CEU][hapmap];0.92[GIH][hapmap]
rs34123410	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34567008	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34672506	0.85[ASN][1000 genomes]
rs34967145	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35047514	0.85[ASN][1000 genomes]
rs4756309	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56898445	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6484843	0.95[ASN][1000 genomes]
rs6484844	0.83[CEU][hapmap];0.80[YRI][hapmap]
rs6484846	0.84[CEU][hapmap];0.81[YRI][hapmap]
rs6484848	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs6484850	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[YRI][hapmap]
rs68181316	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7112360	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7112523	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7112712	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7112777	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7112877	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7116884	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7120381	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs71481974	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs734902	0.84[CEU][hapmap];0.92[GIH][hapmap];0.80[YRI][hapmap]
rs734903	0.84[CEU][hapmap];0.86[YRI][hapmap]
rs734904	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap]

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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400000-36425200	Weak transcription	Fetal Kidney	kidney
2	chr11:36400000-36425600	Weak transcription	HUVEC	blood vessel
3	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:36402000-36424200	Weak transcription	Left Ventricle	heart
7	chr11:36402000-36431800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:36403000-36438200	Weak transcription	Ovary	ovary
9	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:36407400-36425800	Weak transcription	Small Intestine	intestine
11	chr11:36408400-36433000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:36409800-36430000	Weak transcription	Liver	Liver
13	chr11:36412000-36427600	Weak transcription	Placenta	Placenta
14	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
15	chr11:36413200-36441600	Weak transcription	HSMMtube	muscle
16	chr11:36413400-36430000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:36413800-36428400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:36414200-36426000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:36414800-36428800	Weak transcription	Stomach Mucosa	stomach
20	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:36415000-36429800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:36415400-36429400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:36416600-36422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:36416600-36431600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:36417400-36424400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:36417600-36429000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:36418200-36425000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:36418200-36436800	Weak transcription	Pancreas	Pancrea
29	chr11:36418400-36426000	Weak transcription	Fetal Lung	lung
30	chr11:36418400-36426000	Weak transcription	HSMM	muscle
31	chr11:36419400-36423400	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr11:36419400-36423400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:36419400-36428800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:36419600-36423400	Genic enhancers	Spleen	Spleen
35	chr11:36419600-36430000	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr11:36419800-36422800	Genic enhancers	Fetal Intestine Small	intestine
37	chr11:36419800-36422800	Genic enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:36419800-36426400	Genic enhancers	Fetal Intestine Large	intestine
39	chr11:36419800-36429200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:36420000-36423400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:36420000-36423600	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:36420000-36424600	Strong transcription	Colonic Mucosa	Colon
43	chr11:36420200-36423000	Enhancers	Fetal Thymus	thymus
44	chr11:36420200-36424800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr11:36420200-36429000	Strong transcription	NHEK	skin
46	chr11:36420200-36431800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:36420200-36434800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:36420200-36434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:36420400-36424800	Weak transcription	Esophagus	oesophagus
50	chr11:36420400-36430600	Weak transcription	Lung	lung

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