Variant report

Variant	rs11842595
Chromosome Location	chr13:30251242-30251243
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30249644..30251920-chr13:30269289..30271724,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1590951	0.85[AFR][1000 genomes]
rs4299006	0.85[AFR][1000 genomes]
rs7990999	0.83[AFR][1000 genomes]
rs7991542	0.83[AFR][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	nsv510577	chr13:30213612-30254316	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30248600-30252200	Enhancers	NHDF-Ad	bronchial
2	chr13:30249600-30252000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:30249800-30252000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:30249800-30252000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:30249800-30252000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:30249800-30252800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:30250000-30256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:30250600-30251400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:30250600-30251400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:30250600-30251400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:30250600-30251400	Enhancers	Hela-S3	cervix
12	chr13:30250600-30252000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr13:30250600-30252000	Flanking Active TSS	NHEK	skin
14	chr13:30250800-30251400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:30250800-30251400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:30250800-30251400	Enhancers	HSMMtube	muscle
17	chr13:30250800-30251400	Enhancers	NHLF	lung
18	chr13:30250800-30251800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr13:30250800-30252000	Enhancers	HSMM	muscle
20	chr13:30251000-30251400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:30251000-30251400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:30251000-30251400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr13:30251000-30251400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr13:30251000-30251400	Flanking Active TSS	NH-A	brain
25	chr13:30251000-30251400	Flanking Active TSS	Osteobl	bone
26	chr13:30251000-30252000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:30251200-30251600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:30251200-30251600	Active TSS	HMEC	breast
29	chr13:30251200-30252800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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