Variant report

Variant	rs4363718
Chromosome Location	chr13:30578470-30578471
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	chr13:30577169..30579617-chr13:30592820..30595697,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1122694	0.83[EUR][1000 genomes]
rs2779514	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4569104	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4769798	0.83[EUR][1000 genomes]
rs4769799	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7325348	0.94[ASN][1000 genomes]
rs7994485	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8002871	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs846837	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs846838	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs846841	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs846842	0.87[ASN][1000 genomes]
rs846844	0.89[ASN][1000 genomes]
rs9506250	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9579507	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30569200-30580000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30574400-30579400	Weak transcription	Spleen	Spleen
3	chr13:30577000-30580600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:30577800-30578800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:30577800-30578800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:30577800-30578800	Enhancers	NHEK	skin
7	chr13:30577800-30579600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:30577800-30579800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:30577800-30579800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:30577800-30579800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:30577800-30579800	Enhancers	NHDF-Ad	bronchial
12	chr13:30577800-30581200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr13:30578000-30578600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:30578000-30578800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr13:30578000-30581000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr13:30578400-30578600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:30578400-30578600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:30578400-30578600	Enhancers	HSMM	muscle
19	chr13:30578400-30578600	Enhancers	NH-A	brain
20	chr13:30578400-30578800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:30578400-30578800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr13:30578400-30578800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:30578400-30578800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr13:30578400-30578800	Enhancers	NHLF	lung

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