Variant report

Variant	rs12273188
Chromosome Location	chr11:101313615-101313616
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10082588	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10444351	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10791472	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10791474	0.81[AMR][1000 genomes]
rs10791475	0.81[AMR][1000 genomes]
rs10895109	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10895110	0.81[AMR][1000 genomes]
rs10895113	0.81[AMR][1000 genomes]
rs10895114	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs11224762	0.87[CEU][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11224763	0.96[ASN][1000 genomes]
rs11224764	0.86[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11224765	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11224766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224768	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11224769	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11224770	0.81[AMR][1000 genomes]
rs11224771	0.81[AMR][1000 genomes]
rs11819801	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12276736	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12797690	0.82[AMR][1000 genomes]
rs12798689	0.92[YRI][hapmap]
rs12804368	0.96[ASN][1000 genomes]
rs12804391	1.00[CHB][hapmap]
rs3824933	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4255512	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4271356	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4396256	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4405276	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4489713	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4522135	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6590859	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6590860	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6590861	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6590862	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs7105083	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7108099	0.92[YRI][hapmap]
rs7110162	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7113655	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7120857	0.81[AMR][1000 genomes]
rs7121124	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7928028	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7928922	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7930422	1.00[CHB][hapmap]
rs7931399	0.83[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7935581	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs7947695	1.00[CHB][hapmap]
rs7948940	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950048	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7951897	0.87[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7952146	0.86[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv468851	chr11:101268447-101330807	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556132	chr11:101268447-101330807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101302000-101316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:101309200-101314800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:101311400-101313800	Enhancers	NHDF-Ad	bronchial
4	chr11:101311600-101315400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:101311600-101317600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:101311600-101319600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:101311800-101315400	Enhancers	Ovary	ovary
8	chr11:101311800-101315400	Enhancers	Pancreas	Pancrea
9	chr11:101311800-101317400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:101312000-101314000	Enhancers	Right Atrium	heart
11	chr11:101312000-101314200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:101312000-101314400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:101312000-101318000	Enhancers	HSMM	muscle
14	chr11:101312000-101318800	Enhancers	NHLF	lung
15	chr11:101312200-101313800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:101312200-101318400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:101312400-101315200	Enhancers	Left Ventricle	heart
18	chr11:101312400-101315400	Enhancers	Spleen	Spleen
19	chr11:101312400-101317400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:101312600-101315000	Weak transcription	Right Ventricle	heart
21	chr11:101312600-101315000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:101312600-101316800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:101312600-101318400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:101312800-101313800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:101312800-101316200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:101312800-101318600	Enhancers	Osteobl	bone
27	chr11:101313000-101313800	Weak transcription	Aorta	Aorta
28	chr11:101313000-101313800	Weak transcription	Gastric	stomach
29	chr11:101313000-101314000	Weak transcription	Adipose Nuclei	Adipose
30	chr11:101313000-101314200	Weak transcription	Fetal Lung	lung
31	chr11:101313000-101314600	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:101313000-101315200	Weak transcription	HSMMtube	muscle
33	chr11:101313200-101314600	Weak transcription	Fetal Heart	heart
34	chr11:101313200-101316600	Weak transcription	NH-A	brain
35	chr11:101313400-101314800	Weak transcription	HMEC	breast
36	chr11:101313600-101314200	Enhancers	Liver	Liver
37	chr11:101313600-101316000	Enhancers	Stomach Mucosa	stomach

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