Variant report

Variant	rs529323
Chromosome Location	chr8:102576923-102576924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:102576855-102576976	ProgFib	skin:	n/a	n/a
2	SRF	chr8:102576904-102577020	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102575422..102576923-chr8:102579897..102582847,2	MCF-7	breast:
2	chr8:102570719..102573453-chr8:102576572..102578084,2	MCF-7	breast:
3	chr8:102574719..102576400-chr8:102576482..102578890,2	MCF-7	breast:
4	chr8:102576536..102580094-chr8:102585816..102588883,4	MCF-7	breast:
5	chr8:102576342..102577944-chr8:102615348..102618284,2	MCF-7	breast:
6	chr8:102576519..102579331-chr8:102581793..102585306,3	MCF-7	breast:
7	chr8:102503966..102506967-chr8:102574875..102578133,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253153	TF binding region
ENSG00000254024	Chromatin interaction
ENSG00000083307	Chromatin interaction

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

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

rs_ID	r²[population]
rs1474412	0.83[EUR][1000 genomes]
rs2507796	0.87[ASN][1000 genomes]
rs2509767	0.87[ASN][1000 genomes]
rs547820	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs548564	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs608799	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs612357	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[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	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102551400-102577400	Weak transcription	Fetal Stomach	stomach
2	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:102557400-102577400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:102565600-102582800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:102566000-102582800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:102566600-102585600	Weak transcription	Pancreas	Pancrea
7	chr8:102569200-102582800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:102571000-102583000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:102571000-102589600	Weak transcription	Gastric	stomach
10	chr8:102571200-102582200	Weak transcription	NHEK	skin
11	chr8:102572400-102582600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:102572400-102582600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:102572400-102582800	Weak transcription	Placenta	Placenta
14	chr8:102572600-102581600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:102572600-102583000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:102572600-102583000	Weak transcription	Esophagus	oesophagus
17	chr8:102573000-102581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:102573000-102582200	Weak transcription	Fetal Intestine Large	intestine
19	chr8:102573000-102582600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:102573200-102582200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:102575000-102582200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:102575200-102581800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:102575200-102582200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:102575600-102581600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:102575800-102580400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:102576000-102589600	Weak transcription	HMEC	breast
27	chr8:102576800-102577200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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