Variant report

Variant	rs7823875
Chromosome Location	chr8:102508926-102508927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:102508725-102509137	MCF-7	breast:	n/a	n/a
2	FOXA1	chr8:102508585-102508948	T-47D	breast:	n/a	n/a
3	FOXA1	chr8:102508705-102508942	T-47D	breast:	n/a	n/a
4	POLR2A	chr8:102508923-102509141	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102337542..102358418-chr8:102498403..102509669,87	MCF-7	breast:
2	chr8:102366174..102402527-chr8:102495873..102512355,186	MCF-7	breast:
3	chr8:102503148..102509288-chr8:102639386..102649682,19	MCF-7	breast:
4	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
5	chr17:57929450..57932416-chr8:102505119..102509034,4	MCF-7	breast:
6	chr20:53106793..53109729-chr8:102506334..102509246,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254024	TF binding region
ENSG00000228224	Chromatin interaction
ENSG00000254063	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000253644	Chromatin interaction
ENSG00000271560	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11992438	1.00[AMR][1000 genomes]
rs11993289	1.00[AMR][1000 genomes]
rs16867800	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59940281	1.00[AMR][1000 genomes]
rs60728742	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60758999	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7826838	1.00[AMR][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	nsv891229	chr8:102490380-102511670	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102507400-102510400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:102507400-102513400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:102507400-102526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:102507600-102509400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:102507600-102509400	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr8:102507600-102510000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:102507600-102513200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:102507600-102514400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:102507800-102511400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:102508000-102509000	Weak transcription	Fetal Intestine Large	intestine
11	chr8:102508000-102509600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:102508000-102509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:102508000-102509600	Enhancers	NHEK	skin
14	chr8:102508000-102510200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:102508400-102509400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:102508600-102509600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:102508600-102509600	Enhancers	HMEC	breast
18	chr8:102508600-102509800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:102508800-102509000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:102508800-102509000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr8:102508800-102509600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:102508800-102509600	Enhancers	Gastric	stomach
23	chr8:102508800-102509600	Enhancers	Pancreas	Pancrea
24	chr8:102508800-102510000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:102508800-102510000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:102508800-102510800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:102508800-102512400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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