Variant report

Variant	rs583415
Chromosome Location	chr11:100786611-100786612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10501968	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10791431	0.97[ASN][1000 genomes]
rs10791440	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs11224507	0.95[ASN][1000 genomes]
rs11224508	0.90[ASN][1000 genomes]
rs11224509	0.96[ASN][1000 genomes]
rs11224526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11224530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1145434	0.96[ASN][1000 genomes]
rs11534487	0.94[ASN][1000 genomes]
rs12416898	0.95[ASN][1000 genomes]
rs12417055	0.97[ASN][1000 genomes]
rs12417065	0.97[ASN][1000 genomes]
rs12417366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12417367	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs12417750	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12417981	0.93[ASN][1000 genomes]
rs12418060	0.99[ASN][1000 genomes]
rs12418330	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12418450	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12418561	0.90[ASN][1000 genomes]
rs12418769	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12419150	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs12419214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12419257	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12420084	0.89[ASN][1000 genomes]
rs12420453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12420466	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs12420698	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12420922	0.96[ASN][1000 genomes]
rs12421386	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12421655	0.97[ASN][1000 genomes]
rs12422140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17095808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17095820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17095829	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1893683	0.98[ASN][1000 genomes]
rs1940221	0.98[ASN][1000 genomes]
rs1943499	0.97[ASN][1000 genomes]
rs1943500	0.96[ASN][1000 genomes]
rs1944432	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1944433	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1944434	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2155444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2155445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2165664	0.96[ASN][1000 genomes]
rs2165665	0.91[ASN][1000 genomes]
rs2186784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2186785	0.88[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2186786	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2277274	0.86[ASN][1000 genomes]
rs2277275	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2407822	0.98[ASN][1000 genomes]
rs2407823	0.98[ASN][1000 genomes]
rs2407825	0.98[ASN][1000 genomes]
rs28492796	0.96[ASN][1000 genomes]
rs2897779	0.98[ASN][1000 genomes]
rs3843607	1.00[ASN][1000 genomes]
rs3886266	1.00[ASN][1000 genomes]
rs4587692	0.98[ASN][1000 genomes]
rs473765	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs475432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4754708	0.96[ASN][1000 genomes]
rs4754709	0.96[ASN][1000 genomes]
rs479135	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs480145	0.90[ASN][1000 genomes]
rs485269	0.83[CHB][hapmap]
rs488365	1.00[ASW][hapmap];0.96[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs497234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs501831	0.90[ASN][1000 genomes]
rs505458	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs507858	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs515868	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.90[ASN][1000 genomes]
rs516873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs527433	0.91[ASN][1000 genomes]
rs527689	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533384	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs539648	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs540866	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs543146	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs549510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs552490	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs554077	0.90[ASN][1000 genomes]
rs555825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs55745131	0.96[ASN][1000 genomes]
rs56320976	0.98[ASN][1000 genomes]
rs563460	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]
rs568618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs57502383	0.91[ASN][1000 genomes]
rs575734	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs576472	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs581921	0.81[CEU][hapmap]
rs585183	0.82[EUR][1000 genomes]
rs601016	0.90[ASN][1000 genomes]
rs60423120	0.86[ASN][1000 genomes]
rs60612076	0.90[ASN][1000 genomes]
rs607392	1.00[AFR][1000 genomes]
rs623072	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs626529	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs634968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs640326	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs647256	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6590829	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6590830	0.86[ASN][1000 genomes]
rs6590831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6590832	0.83[ASN][1000 genomes]
rs6590833	0.86[ASN][1000 genomes]
rs661973	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs662453	0.96[ASN][1000 genomes]
rs668513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs688146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7110858	0.86[ASN][1000 genomes]
rs7114062	0.94[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs7130581	0.86[ASN][1000 genomes]
rs7130586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7933033	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7950572	0.86[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:33 , 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	chr11:100758600-100795200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:100758800-100789400	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:100758800-100791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:100761600-100788800	Weak transcription	Fetal Heart	heart
6	chr11:100770400-100789800	Weak transcription	Fetal Stomach	stomach
7	chr11:100772000-100831400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:100773800-100789600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:100773800-100789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:100773800-100809800	Weak transcription	Left Ventricle	heart
11	chr11:100774800-100812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:100776000-100794000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:100776800-100789600	Weak transcription	Gastric	stomach
14	chr11:100777400-100794200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:100779200-100789400	Weak transcription	NH-A	brain
16	chr11:100779800-100790000	Weak transcription	Psoas Muscle	Psoas
17	chr11:100779800-100794200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:100780400-100792600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:100782000-100789600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:100783000-100790000	Weak transcription	Ovary	ovary
21	chr11:100783200-100788800	Weak transcription	Fetal Kidney	kidney
22	chr11:100783600-100789600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:100783800-100789800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:100784000-100789800	Weak transcription	Small Intestine	intestine
25	chr11:100784000-100808800	Weak transcription	Primary B cells from cord blood	blood
26	chr11:100785200-100787000	Strong transcription	Liver	Liver
27	chr11:100785200-100789800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:100785400-100838400	Weak transcription	Fetal Intestine Small	intestine
29	chr11:100785600-100789400	Weak transcription	Fetal Lung	lung
30	chr11:100785600-100789800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:100785600-100789800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:100786200-100786800	Strong transcription	Placenta	Placenta
33	chr11:100786200-100794000	Weak transcription	HSMMtube	muscle

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