Variant report

Variant	rs62519115
Chromosome Location	chr8:102579295-102579296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:102579259-102579496	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:102576536..102580094-chr8:102585816..102588883,4	MCF-7	breast:
2	chr8:102578394..102580436-chr8:102646392..102647892,2	MCF-7	breast:
3	chr8:102576519..102579331-chr8:102581793..102585306,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253153	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16867839	0.85[EUR][1000 genomes]
rs1723751	0.88[EUR][1000 genomes]
rs1949875	0.87[EUR][1000 genomes]
rs2096554	0.88[EUR][1000 genomes]
rs2507797	0.86[EUR][1000 genomes]
rs510426	0.88[EUR][1000 genomes]
rs541484	0.87[EUR][1000 genomes]
rs62519112	0.86[EUR][1000 genomes]
rs62519114	0.87[EUR][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	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
3	nsv891230	chr8:102569309-102604306	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102565600-102582800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:102566000-102582800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:102566600-102585600	Weak transcription	Pancreas	Pancrea
5	chr8:102569200-102582800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:102571000-102583000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:102571000-102589600	Weak transcription	Gastric	stomach
8	chr8:102571200-102582200	Weak transcription	NHEK	skin
9	chr8:102572400-102582600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:102572400-102582600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:102572400-102582800	Weak transcription	Placenta	Placenta
12	chr8:102572600-102581600	Weak transcription	Fetal Intestine Small	intestine
13	chr8:102572600-102583000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:102572600-102583000	Weak transcription	Esophagus	oesophagus
15	chr8:102573000-102581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:102573000-102582200	Weak transcription	Fetal Intestine Large	intestine
17	chr8:102573000-102582600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:102573200-102582200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:102575000-102582200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:102575200-102581800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:102575200-102582200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:102575600-102581600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:102575800-102580400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:102576000-102589600	Weak transcription	HMEC	breast
25	chr8:102577400-102580400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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