Variant report

Variant	rs2083712
Chromosome Location	chr11:10133622-10133623
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10129087..10131222-chr11:10133484..10136579,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11042615	0.88[YRI][hapmap]
rs11042683	0.87[YRI][hapmap]
rs12417184	0.82[YRI][hapmap]
rs13306112	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs13306113	1.00[AMR][1000 genomes]
rs1470258	0.88[YRI][hapmap]
rs1822290	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1822292	0.88[YRI][hapmap]
rs2044145	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2044146	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2083713	1.00[YRI][hapmap]
rs2920154	1.00[YRI][hapmap]
rs35389379	1.00[AMR][1000 genomes]
rs36073664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4910093	1.00[YRI][hapmap]
rs58795846	1.00[AMR][1000 genomes]
rs59140383	1.00[AMR][1000 genomes]
rs59871004	1.00[AMR][1000 genomes]
rs7935934	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1039636	chr11:10126747-10280570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1036041	chr11:10131018-10212202	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10120400-10142800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:10122200-10144200	Weak transcription	Left Ventricle	heart
3	chr11:10122200-10156400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:10122400-10138600	Weak transcription	Esophagus	oesophagus
5	chr11:10122800-10141200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr11:10122800-10142600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:10123200-10156400	Weak transcription	Fetal Intestine Small	intestine
8	chr11:10126200-10143000	Weak transcription	Ovary	ovary
9	chr11:10131200-10135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:10131200-10144200	Weak transcription	Psoas Muscle	Psoas
11	chr11:10131400-10134400	Enhancers	NHDF-Ad	bronchial
12	chr11:10131400-10139200	Weak transcription	HUVEC	blood vessel
13	chr11:10131400-10142800	Weak transcription	Fetal Brain Male	brain
14	chr11:10131600-10134600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:10131600-10139200	Weak transcription	HSMMtube	muscle
16	chr11:10131600-10139600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:10131800-10136000	Weak transcription	Adipose Nuclei	Adipose
18	chr11:10131800-10136200	Weak transcription	A549	lung
19	chr11:10131800-10136400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:10131800-10139000	Weak transcription	Fetal Lung	lung
21	chr11:10131800-10139000	Weak transcription	HSMM	muscle
22	chr11:10131800-10143600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:10132000-10136400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:10132200-10136400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:10132200-10143000	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:10132400-10135400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:10132400-10136200	Weak transcription	Osteobl	bone
28	chr11:10132400-10136400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:10132800-10134000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:10133200-10135800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:10133400-10136000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:10133600-10133800	Enhancers	NHLF	lung

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