Variant report

Variant	rs13273513
Chromosome Location	chr8:49236070-49236071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:100568889..100569389-chr8:49235711..49236467,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1027966	0.90[ASN][1000 genomes]
rs10957026	0.97[ASN][1000 genomes]
rs16936623	0.86[ASN][1000 genomes]
rs4873082	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1018242	chr8:49190915-49243694	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539600	chr8:49190915-49243694	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49232000-49236400	Weak transcription	Esophagus	oesophagus
2	chr8:49232400-49236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:49232600-49236600	Weak transcription	HSMM	muscle
4	chr8:49232800-49236200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:49232800-49236400	Weak transcription	NH-A	brain
6	chr8:49232800-49237800	Weak transcription	Fetal Intestine Small	intestine
7	chr8:49233000-49236200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:49233000-49236200	Weak transcription	Osteobl	bone
9	chr8:49233000-49236600	Weak transcription	NHLF	lung
10	chr8:49233400-49236400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:49233400-49236400	Weak transcription	NHDF-Ad	bronchial
12	chr8:49233400-49239600	Weak transcription	Fetal Stomach	stomach
13	chr8:49233800-49236400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:49235000-49236200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:49235000-49237000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:49235000-49237200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:49235000-49237200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:49235000-49237600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:49235000-49237600	Enhancers	HMEC	breast
20	chr8:49235200-49236800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:49235400-49236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:49235800-49236200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:49235800-49236400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:49235800-49237200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:49235800-49237600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:49235800-49237600	Enhancers	NHEK	skin
27	chr8:49236000-49236600	Enhancers	Placenta	Placenta

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