Variant report

Variant	rs595530
Chromosome Location	chr8:102532567-102532568
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	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271560	Chromatin interaction
ENSG00000228224	Chromatin interaction
ENSG00000254063	Chromatin interaction
ENSG00000253644	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs529132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][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	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102527000-102532600	Weak transcription	HMEC	breast
2	chr8:102527000-102532800	Weak transcription	NHEK	skin
3	chr8:102527000-102537800	Weak transcription	Placenta	Placenta
4	chr8:102527000-102551200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:102527000-102551400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:102527200-102533400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:102527200-102533400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:102527200-102555400	Weak transcription	Fetal Intestine Small	intestine
9	chr8:102527200-102556800	Weak transcription	Fetal Intestine Large	intestine
10	chr8:102527800-102533000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:102527800-102533400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:102527800-102540600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:102527800-102541600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:102528000-102542000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:102528000-102542200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:102528400-102533400	Weak transcription	A549	lung
17	chr8:102528400-102550600	Weak transcription	Esophagus	oesophagus
18	chr8:102530000-102532800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:102530800-102532600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:102530800-102535400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:102531200-102533400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:102531200-102533400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:102531600-102533400	Weak transcription	Pancreas	Pancrea
24	chr8:102532400-102533800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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