Variant report

Variant	rs652017
Chromosome Location	chr11:100796416-100796417
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10791434	1.00[CEU][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10791435	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10791436	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10791437	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10791438	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10895031	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11224535	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1145435	0.82[EUR][1000 genomes]
rs1217180	0.86[EUR][1000 genomes]
rs1941370	0.98[EUR][1000 genomes]
rs1941371	0.98[EUR][1000 genomes]
rs1941372	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2155442	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2155793	0.98[EUR][1000 genomes]
rs2510624	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2510625	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2510626	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3017866	1.00[CEU][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs471180	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs474651	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4753987	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs475432	0.89[AFR][1000 genomes]
rs477567	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs480080	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs480145	0.89[AFR][1000 genomes]
rs481991	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs482050	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs483789	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs485767	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs491964	0.89[EUR][1000 genomes]
rs493079	1.00[CEU][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs494451	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs494907	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs497234	0.89[AFR][1000 genomes]
rs499861	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs501797	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs501831	0.89[AFR][1000 genomes]
rs503455	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs504081	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs505405	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs506242	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs508850	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs508950	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs509013	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs509166	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs509676	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs512405	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs513057	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs514101	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs514403	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs518675	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs519235	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs519594	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs520403	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs520539	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs521216	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs522337	1.00[CEU][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs522988	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs524416	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs525129	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs525940	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs529194	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs532783	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs534623	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs535518	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs536270	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs538158	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs539204	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs539648	0.83[AFR][1000 genomes]
rs540000	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs540961	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs541056	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs544257	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs544388	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs546052	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs546059	0.86[EUR][1000 genomes]
rs547105	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs549510	0.89[AFR][1000 genomes]
rs551502	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs552391	0.89[EUR][1000 genomes]
rs554077	0.84[AFR][1000 genomes]
rs555825	0.89[AFR][1000 genomes]
rs560235	1.00[CEU][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs562891	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs566608	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs571904	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs572838	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs575448	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs576355	0.82[EUR][1000 genomes]
rs577170	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs577251	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs578102	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs580773	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs583989	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs584029	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs594200	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs594985	1.00[CEU][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs595761	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs601016	0.89[AFR][1000 genomes]
rs602385	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs607889	0.90[EUR][1000 genomes]
rs611591	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs616164	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs617898	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs618017	1.00[CEU][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs618155	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs618907	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs619066	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs620790	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs621172	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs629442	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs629677	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs632725	1.00[CEU][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs633967	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs637508	1.00[CEU][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs638004	0.88[CEU][hapmap];0.98[EUR][1000 genomes]
rs641948	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs649369	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs649394	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs650269	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs652559	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs653344	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs661973	0.82[AFR][1000 genomes]
rs662173	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs663622	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs668513	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs673125	0.83[EUR][1000 genomes]
rs676976	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs678351	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs678775	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs688664	0.90[EUR][1000 genomes]
rs693760	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs694078	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs694556	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7929787	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7933457	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7952007	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7952634	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][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:43 , 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	chr11:100790400-100806600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:100790800-100798200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:100791800-100796600	Weak transcription	Hela-S3	cervix
16	chr11:100791800-100796800	Weak transcription	A549	lung
17	chr11:100793400-100807000	Weak transcription	Liver	Liver
18	chr11:100793800-100798400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:100794200-100797400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:100794200-100799200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:100794200-100803000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:100794200-100807000	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:100794400-100798200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:100794400-100798400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:100794400-100800000	Weak transcription	HSMMtube	muscle
26	chr11:100794400-100812800	Weak transcription	Fetal Stomach	stomach
27	chr11:100794800-100796600	Weak transcription	NHDF-Ad	bronchial
28	chr11:100794800-100798400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:100794800-100799400	Weak transcription	HSMM	muscle
30	chr11:100794800-100800000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:100794800-100800200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:100795000-100796600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:100795000-100796600	Weak transcription	NH-A	brain
34	chr11:100795000-100796600	Weak transcription	NHLF	lung
35	chr11:100795000-100796600	Weak transcription	Osteobl	bone
36	chr11:100795000-100797400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:100795000-100800000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:100795600-100807400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:100796000-100797400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:100796200-100796800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:100796400-100796600	Enhancers	GM12878-XiMat	blood
42	chr11:100796400-100797000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:100796400-100799000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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