Variant report

Variant	rs2847730
Chromosome Location	chr8:102508060-102508061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr8:102503328-102508201	MCF-7	breast:	n/a	n/a

No data

(count:16 , 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	chr8:102402569..102408629-chr8:102502856..102508138,9	MCF-7	breast:
4	chr22:29137084..29138986-chr8:102507009..102508835,2	MCF-7	breast:
5	chr21:34774369..34776334-chr8:102505341..102508249,2	MCF-7	breast:
6	chr8:102503148..102509288-chr8:102639386..102649682,19	MCF-7	breast:
7	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
8	chr14:103188812..103191786-chr8:102505927..102508516,2	MCF-7	breast:
9	chr8:102421200..102423385-chr8:102506530..102508176,2	MCF-7	breast:
10	chr8:102505869..102508216-chr8:102632602..102635054,2	MCF-7	breast:
11	chr17:57914083..57915750-chr8:102506041..102508280,2	MCF-7	breast:
12	chr17:57929450..57932416-chr8:102505119..102509034,4	MCF-7	breast:
13	chr17:57928766..57930438-chr8:102505580..102508239,2	MCF-7	breast:
14	chr1:149858149..149860627-chr8:102506231..102508763,2	MCF-7	breast:
15	chr20:53106793..53109729-chr8:102506334..102509246,2	MCF-7	breast:
16	chr8:102499850..102508532-chr8:102642696..102652505,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254024	TF binding region
ENSG00000254063	Chromatin interaction
ENSG00000253644	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000271560	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000228224	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000159128	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs475304	1.00[ASN][1000 genomes]
rs509390	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs514588	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs515622	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs523244	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs534285	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs537658	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs541154	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs541226	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs546630	0.80[ASN][1000 genomes]
rs560043	0.80[ASN][1000 genomes]
rs561626	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs567389	0.80[ASN][1000 genomes]
rs568894	0.80[ASN][1000 genomes]
rs589919	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs624013	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs680890	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs687399	0.80[ASN][1000 genomes]
rs687909	0.91[AMR][1000 genomes];1.00[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	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102506800-102508800	Weak transcription	Gastric	stomach
2	chr8:102506800-102508800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:102507400-102510400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:102507400-102513400	Weak transcription	Fetal Intestine Small	intestine
5	chr8:102507400-102526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:102507600-102508600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:102507600-102508800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:102507600-102508800	Weak transcription	Pancreas	Pancrea
9	chr8:102507600-102508800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:102507600-102509400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:102507600-102509400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr8:102507600-102510000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:102507600-102513200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:102507600-102514400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:102507800-102508200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:102507800-102508200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:102507800-102508200	Enhancers	HMEC	breast
18	chr8:102507800-102508800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:102507800-102511400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:102508000-102508200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:102508000-102508400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:102508000-102509000	Weak transcription	Fetal Intestine Large	intestine
23	chr8:102508000-102509600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:102508000-102509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:102508000-102509600	Enhancers	NHEK	skin
26	chr8:102508000-102510200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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