Variant report

Variant	rs12285336
Chromosome Location	chr11:100760379-100760380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1047624	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11224511	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11224517	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11224518	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11224519	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11224520	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11224525	0.87[AFR][1000 genomes]
rs11224528	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11224529	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12273212	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12276190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12281097	1.00[AFR][1000 genomes]
rs12281543	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12283290	0.93[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12286700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12286931	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12287226	1.00[AFR][1000 genomes]
rs12290272	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12417750	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17095808	1.00[YRI][hapmap]
rs17095820	1.00[YRI][hapmap]
rs17646129	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17646702	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17647068	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17647243	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17648451	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17648695	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17654410	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17654633	0.85[EUR][1000 genomes]
rs17659845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17713573	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17726649	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17726667	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17726715	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17726918	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17727251	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17727449	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17727789	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17727843	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1940220	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1940222	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1944435	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2226640	0.86[EUR][1000 genomes]
rs41392445	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs55952345	0.88[EUR][1000 genomes]
rs56199820	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60312663	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7948907	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7949497	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100749600-100761200	Weak transcription	HSMM	muscle
2	chr11:100750600-100760800	Weak transcription	NHDF-Ad	bronchial
3	chr11:100752800-100761200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:100755000-100766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:100755400-100760600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:100755800-100760800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:100758200-100760400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:100758400-100798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:100758600-100760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:100758600-100773400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:100758600-100795200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:100758800-100789400	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:100758800-100791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:100759000-100760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:100759000-100761400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:100759400-100761000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:100759400-100761600	Enhancers	Fetal Heart	heart
18	chr11:100759400-100761800	Enhancers	Left Ventricle	heart
19	chr11:100759600-100761400	Enhancers	NH-A	brain
20	chr11:100760000-100760800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:100760000-100760800	Enhancers	Right Atrium	heart
22	chr11:100760000-100760800	Enhancers	Right Ventricle	heart
23	chr11:100760200-100761800	Enhancers	Liver	Liver

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