Variant report

Variant	rs12419214
Chromosome Location	chr11:100795352-100795353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10501968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10791431	0.95[ASN][1000 genomes]
rs10791440	1.00[CHB][hapmap]
rs11224507	0.90[ASN][1000 genomes]
rs11224508	0.87[ASN][1000 genomes]
rs11224509	0.91[ASN][1000 genomes]
rs11224526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11224530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1145434	1.00[ASN][1000 genomes]
rs11534487	0.90[ASN][1000 genomes]
rs12416898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12417055	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12417065	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12417295	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12417366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12417367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12417750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12417981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12418060	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12418330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418344	1.00[EUR][1000 genomes]
rs12418450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418561	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12419150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419257	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12420084	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12420453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12420466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12420698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12421655	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12422140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17095808	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17095820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17095829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1893683	0.94[ASN][1000 genomes]
rs1940221	0.96[ASN][1000 genomes]
rs1943499	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1943500	0.94[ASN][1000 genomes]
rs1944432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1944433	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1944434	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2155444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2155445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2165664	0.92[ASN][1000 genomes]
rs2165665	0.89[ASN][1000 genomes]
rs2186784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2186785	0.89[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs2186786	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2277274	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2277275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2407822	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2407823	0.94[ASN][1000 genomes]
rs2407825	0.94[ASN][1000 genomes]
rs28492796	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897779	0.94[ASN][1000 genomes]
rs3843607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3886266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4587692	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs473765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs475432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4754708	0.94[ASN][1000 genomes]
rs4754709	0.94[ASN][1000 genomes]
rs479135	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs480145	0.94[ASN][1000 genomes]
rs485269	0.84[CHB][hapmap]
rs497234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs501831	0.94[ASN][1000 genomes]
rs505458	1.00[CHB][hapmap]
rs507858	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs515868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs516873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs527433	0.96[ASN][1000 genomes]
rs527689	0.96[ASN][1000 genomes]
rs533384	1.00[CHB][hapmap]
rs539648	1.00[ASN][1000 genomes]
rs540866	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs543146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs549510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs552490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs554077	0.94[ASN][1000 genomes]
rs555825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs55745131	1.00[ASN][1000 genomes]
rs56320976	0.94[ASN][1000 genomes]
rs563460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs568618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs57502383	0.96[ASN][1000 genomes]
rs575734	1.00[CHB][hapmap]
rs576472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs583415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs601016	0.94[ASN][1000 genomes]
rs60423120	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60612076	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61995873	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs623072	0.96[ASN][1000 genomes]
rs626529	0.99[ASN][1000 genomes]
rs634968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs640326	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs647256	0.96[ASN][1000 genomes]
rs658497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6590829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6590830	0.91[ASN][1000 genomes]
rs6590831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6590832	0.87[ASN][1000 genomes]
rs6590833	0.91[ASN][1000 genomes]
rs661973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs662453	0.93[ASN][1000 genomes]
rs668513	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs688146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7110858	0.91[ASN][1000 genomes]
rs7114062	0.94[CHB][hapmap];0.83[JPT][hapmap];0.99[ASN][1000 genomes]
rs7130581	0.91[ASN][1000 genomes]
rs7130586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7933033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7950572	0.91[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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100758400-100798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:100772000-100831400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:100773800-100809800	Weak transcription	Left Ventricle	heart
4	chr11:100774800-100812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:100784000-100808800	Weak transcription	Primary B cells from cord blood	blood
6	chr11:100785400-100838400	Weak transcription	Fetal Intestine Small	intestine
7	chr11:100786800-100806800	Weak transcription	Placenta	Placenta
8	chr11:100790000-100796600	Weak transcription	NHEK	skin
9	chr11:100790000-100803200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:100790200-100796600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:100790200-100798200	Weak transcription	Fetal Heart	heart
12	chr11:100790200-100812600	Weak transcription	Stomach Mucosa	stomach
13	chr11:100790400-100796200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:100790400-100806600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:100790800-100798200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:100791800-100796600	Weak transcription	Hela-S3	cervix
17	chr11:100791800-100796800	Weak transcription	A549	lung
18	chr11:100793400-100807000	Weak transcription	Liver	Liver
19	chr11:100793800-100798400	Weak transcription	Brain Angular Gyrus	brain
20	chr11:100794000-100796000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:100794200-100797400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:100794200-100799200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:100794200-100803000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:100794200-100807000	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:100794400-100798200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:100794400-100798400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:100794400-100800000	Weak transcription	HSMMtube	muscle
28	chr11:100794400-100812800	Weak transcription	Fetal Stomach	stomach
29	chr11:100794800-100796600	Weak transcription	NHDF-Ad	bronchial
30	chr11:100794800-100798400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:100794800-100799400	Weak transcription	HSMM	muscle
32	chr11:100794800-100800000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:100794800-100800200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:100795000-100796600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:100795000-100796600	Weak transcription	NH-A	brain
36	chr11:100795000-100796600	Weak transcription	NHLF	lung
37	chr11:100795000-100796600	Weak transcription	Osteobl	bone
38	chr11:100795000-100797400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:100795000-100800000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:100795200-100795600	Enhancers	Fetal Muscle Trunk	muscle
41	chr11:100795200-100796400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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