Variant report

Variant	rs2794478
Chromosome Location	chr1:95026116-95026117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95007807..95010270-chr1:95025313..95026976,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1146511	0.99[ASN][1000 genomes]
rs1146514	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985285	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957334	0.97[ASN][1000 genomes]

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	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95019000-95028200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:95019000-95028200	Weak transcription	Pancreas	Pancrea
3	chr1:95020400-95028200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:95020600-95028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:95021400-95027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:95025200-95026200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:95025200-95026200	Enhancers	Hela-S3	cervix
8	chr1:95025400-95026200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:95025400-95026200	Enhancers	HepG2	liver
10	chr1:95025400-95027200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:95025800-95027000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:95025800-95027000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:95025800-95028400	Weak transcription	Esophagus	oesophagus
14	chr1:95026000-95027000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:95026000-95027000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:95026000-95027000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:95026000-95027400	Weak transcription	Stomach Mucosa	stomach
18	chr1:95026000-95028000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:95026000-95028000	Weak transcription	Fetal Intestine Large	intestine
20	chr1:95026000-95028000	Weak transcription	HSMMtube	muscle
21	chr1:95026000-95028200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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