Variant report

Variant	rs495825
Chromosome Location	chr11:71852625-71852626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71817497..71819718-chr11:71852568..71855106,2	MCF-7	breast:
2	chr11:71821717..71826052-chr11:71851780..71856774,7	MCF-7	breast:
3	chr11:71822348..71825348-chr11:71852319..71854832,3	MCF-7	breast:
4	chr11:71851522..71853498-chr11:71890827..71892489,2	K562	blood:

Variant related genes	Relation type
ENSG00000110203	Chromatin interaction
ENSG00000110200	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2508872	0.82[ASN][1000 genomes]
rs4341565	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs471547	0.82[CHB][hapmap]
rs492080	1.00[ASN][1000 genomes]
rs520360	0.94[EUR][1000 genomes]
rs522381	1.00[CHB][hapmap];0.85[GIH][hapmap];0.86[LWK][hapmap];0.98[MKK][hapmap];0.81[AFR][1000 genomes]
rs649089	0.89[EUR][1000 genomes]
rs650372	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs654530	0.85[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv1054858	chr11:71847797-71880291	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3493111	chr11:71850822-71893073	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3493112	chr11:71850822-71893073	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv435918	chr11:71851427-71890983	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv5948	chr11:71851479-71890582	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3359634	chr11:71851533-71892403	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71846800-71853400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:71848400-71854600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:71849200-71852800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:71849800-71853600	Genic enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:71850600-71853400	Enhancers	NHDF-Ad	bronchial
6	chr11:71850800-71853000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:71850800-71853200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:71850800-71853400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:71850800-71853400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:71850800-71853600	Enhancers	Hela-S3	cervix
11	chr11:71850800-71856200	Enhancers	HMEC	breast
12	chr11:71851000-71852800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:71851000-71853200	Enhancers	Placenta	Placenta
14	chr11:71851000-71853400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:71851200-71856200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:71851400-71853400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:71851600-71853200	Genic enhancers	Monocytes-CD14+_RO01746	blood
18	chr11:71851800-71853200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:71851800-71853200	Enhancers	NHLF	lung
20	chr11:71852000-71853200	Enhancers	HSMMtube	muscle
21	chr11:71852200-71854800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:71852400-71852800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:71852400-71852800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:71852400-71852800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:71852400-71852800	Enhancers	A549	lung
26	chr11:71852400-71852800	Flanking Active TSS	HSMM	muscle
27	chr11:71852400-71852800	Flanking Active TSS	Osteobl	bone
28	chr11:71852400-71853000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:71852400-71853000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr11:71852600-71852800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:71852600-71853000	Weak transcription	Primary B cells from cord blood	blood
32	chr11:71852600-71853000	Flanking Active TSS	NHEK	skin
33	chr11:71852600-71853400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr11:71852600-71853400	Enhancers	NH-A	brain
35	chr11:71852600-71853800	Enhancers	Fetal Thymus	thymus
36	chr11:71852600-71854400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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