Variant report

Variant	rs7948907
Chromosome Location	chr11:100797479-100797480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1047624	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11224511	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11224517	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11224518	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11224519	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11224520	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11224528	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11224529	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273212	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12276190	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12281543	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12283290	0.93[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285336	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12286700	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12286931	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12290272	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12417750	0.95[EUR][1000 genomes]
rs17095808	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17095820	1.00[YRI][hapmap]
rs17646129	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17646702	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17647068	0.93[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17647243	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17648451	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17648695	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17654410	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17654633	0.90[EUR][1000 genomes]
rs17659845	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17713573	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17726649	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17726667	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17726715	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17726918	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17727251	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17727449	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17727789	0.90[EUR][1000 genomes]
rs17727843	0.90[EUR][1000 genomes]
rs1940220	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1940222	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1944435	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2226640	0.91[EUR][1000 genomes]
rs41392445	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs55952345	0.93[EUR][1000 genomes]
rs56199820	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60312663	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7924400	0.82[EUR][1000 genomes]
rs7949497	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:44 , 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	chr11:100790000-100803200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:100790200-100798200	Weak transcription	Fetal Heart	heart
10	chr11:100790200-100812600	Weak transcription	Stomach Mucosa	stomach
11	chr11:100790400-100806600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:100790800-100798200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:100793400-100807000	Weak transcription	Liver	Liver
14	chr11:100793800-100798400	Weak transcription	Brain Angular Gyrus	brain
15	chr11:100794200-100799200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:100794200-100803000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:100794200-100807000	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:100794400-100798200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:100794400-100798400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:100794400-100800000	Weak transcription	HSMMtube	muscle
21	chr11:100794400-100812800	Weak transcription	Fetal Stomach	stomach
22	chr11:100794800-100798400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:100794800-100799400	Weak transcription	HSMM	muscle
24	chr11:100794800-100800000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:100794800-100800200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:100795000-100800000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:100795600-100807400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:100796400-100799000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:100796800-100798400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:100797000-100798200	Weak transcription	NH-A	brain
31	chr11:100797000-100798400	Weak transcription	NHLF	lung
32	chr11:100797000-100798600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:100797000-100798600	Weak transcription	NHEK	skin
34	chr11:100797000-100798600	Weak transcription	Osteobl	bone
35	chr11:100797000-100799200	Weak transcription	NHDF-Ad	bronchial
36	chr11:100797000-100800000	Weak transcription	Hela-S3	cervix
37	chr11:100797200-100797600	Enhancers	GM12878-XiMat	blood
38	chr11:100797200-100798400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:100797200-100799000	Weak transcription	HMEC	breast
40	chr11:100797200-100799800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:100797200-100800000	Weak transcription	A549	lung
42	chr11:100797400-100797600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:100797400-100799200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:100797400-100800000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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