Variant report

Variant	rs12274403
Chromosome Location	chr11:36425294-36425295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10836550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836551	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033591	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11033592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12276120	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12292430	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12785381	0.84[CEU][hapmap]
rs12801831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1895839	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1895840	0.91[CEU][hapmap]
rs330261	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs330263	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs330264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4756310	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6484842	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6484844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6484845	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6484846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6484847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6484848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6484849	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6484850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7119241	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7120381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122435	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs734902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs734903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs734904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400000-36425600	Weak transcription	HUVEC	blood vessel
2	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:36402000-36431800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:36403000-36438200	Weak transcription	Ovary	ovary
7	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:36407400-36425800	Weak transcription	Small Intestine	intestine
9	chr11:36408400-36433000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:36409800-36430000	Weak transcription	Liver	Liver
11	chr11:36412000-36427600	Weak transcription	Placenta	Placenta
12	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
13	chr11:36413200-36441600	Weak transcription	HSMMtube	muscle
14	chr11:36413400-36430000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:36413800-36428400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:36414200-36426000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:36414800-36428800	Weak transcription	Stomach Mucosa	stomach
18	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:36415000-36429800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:36415400-36429400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:36416600-36431600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:36417600-36429000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:36418200-36436800	Weak transcription	Pancreas	Pancrea
24	chr11:36418400-36426000	Weak transcription	Fetal Lung	lung
25	chr11:36418400-36426000	Weak transcription	HSMM	muscle
26	chr11:36419400-36428800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:36419600-36430000	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr11:36419800-36426400	Genic enhancers	Fetal Intestine Large	intestine
29	chr11:36419800-36429200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:36420200-36429000	Strong transcription	NHEK	skin
31	chr11:36420200-36431800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:36420200-36434800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:36420200-36434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:36420400-36430600	Weak transcription	Lung	lung
35	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:36421000-36425800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr11:36421400-36428400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:36421400-36432400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:36421400-36435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:36421800-36425600	Genic enhancers	Rectal Mucosa Donor 29	rectum
43	chr11:36421800-36432600	Weak transcription	Brain Anterior Caudate	brain
44	chr11:36422200-36425400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:36422200-36425800	Weak transcription	Fetal Brain Male	brain
46	chr11:36422400-36430600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:36422600-36425800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:36422600-36426000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:36422800-36430000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:36423000-36425800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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