Variant report

Variant	rs12788461
Chromosome Location	chr11:101317315-101317316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:101308161..101311087-chr11:101315478..101317745,2	MCF-7	breast:
2	chr11:101311732..101314257-chr11:101315971..101319551,3	MCF-7	breast:
3	chr11:100997989..101001513-chr11:101311577..101317753,7	MCF-7	breast:
4	chr11:101315303..101317533-chr11:101320220..101323085,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082175	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10082588	0.86[ASN][1000 genomes]
rs10444351	1.00[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10791472	0.93[ASN][1000 genomes]
rs10791473	0.89[ASN][1000 genomes]
rs10791474	0.89[ASN][1000 genomes]
rs10791475	0.89[ASN][1000 genomes]
rs10895109	0.93[ASN][1000 genomes]
rs10895110	0.89[ASN][1000 genomes]
rs10895112	0.86[ASN][1000 genomes]
rs10895113	0.89[ASN][1000 genomes]
rs10895114	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs11224695	1.00[YRI][hapmap]
rs11224762	1.00[CHD][hapmap]
rs11224765	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11224766	0.82[ASN][1000 genomes]
rs11224768	0.87[ASN][1000 genomes]
rs11224769	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11224770	0.89[ASN][1000 genomes]
rs11224771	0.89[ASN][1000 genomes]
rs11224772	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11224773	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224805	0.91[MKK][hapmap]
rs11224815	0.91[MKK][hapmap]
rs11819801	0.93[ASN][1000 genomes]
rs12276736	0.86[ASN][1000 genomes]
rs12786558	0.92[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12791865	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12793746	0.91[MKK][hapmap]
rs12794328	1.00[YRI][hapmap]
rs12795728	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12797690	0.89[ASN][1000 genomes]
rs12804368	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12804391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12804595	0.87[ASN][1000 genomes]
rs12805398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3824933	0.95[ASN][1000 genomes]
rs4396256	1.00[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs4405276	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs4489713	0.89[ASN][1000 genomes]
rs4520564	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs4522135	0.87[ASN][1000 genomes]
rs6590859	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6590860	0.89[ASN][1000 genomes]
rs6590861	0.89[ASN][1000 genomes]
rs6590862	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7105083	0.89[ASN][1000 genomes]
rs7109734	0.91[ASN][1000 genomes]
rs7110162	1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7113655	0.95[ASN][1000 genomes]
rs7120857	0.89[ASN][1000 genomes]
rs7121124	0.89[ASN][1000 genomes]
rs7928028	0.89[ASN][1000 genomes]
rs7928922	0.95[ASN][1000 genomes]
rs7930422	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7931399	1.00[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7935581	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7936768	0.89[ASN][1000 genomes]
rs7942665	0.89[ASN][1000 genomes]
rs7947695	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7948940	1.00[CHD][hapmap]
rs7950048	0.89[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101311600-101317600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:101311600-101319600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:101311800-101317400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:101312000-101318000	Enhancers	HSMM	muscle
5	chr11:101312000-101318800	Enhancers	NHLF	lung
6	chr11:101312200-101318400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:101312400-101317400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:101312600-101318400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:101312800-101318600	Enhancers	Osteobl	bone
10	chr11:101314200-101318400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:101314400-101321200	Enhancers	NHDF-Ad	bronchial
12	chr11:101314400-101352800	Weak transcription	Aorta	Aorta
13	chr11:101314600-101318800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:101315400-101319400	Weak transcription	Ovary	ovary
15	chr11:101315800-101317400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:101315800-101317600	Enhancers	HMEC	breast
17	chr11:101316000-101317400	Enhancers	NHEK	skin
18	chr11:101316200-101317400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:101316200-101317600	Enhancers	A549	lung
20	chr11:101316400-101317600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:101316400-101330000	Weak transcription	Fetal Lung	lung
22	chr11:101316600-101317400	Enhancers	NH-A	brain
23	chr11:101316800-101317400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:101317000-101318400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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