Variant report

Variant	rs183220120
Chromosome Location	chr8:102620258-102620259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102481107..102483505-chr8:102620149..102622971,2	MCF-7	breast:
2	chr8:102618309..102622005-chr8:102635683..102639742,4	MCF-7	breast:
3	chr8:102618200..102620350-chr8:102623909..102626355,2	K562	blood:
4	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
5	chr8:102599405..102601179-chr8:102618530..102620423,2	MCF-7	breast:
6	chr8:102619702..102621730-chr8:103818248..103820356,2	MCF-7	breast:
7	chr8:102619314..102627249-chr8:102640943..102646440,7	MCF-7	breast:
8	chr8:102524405..102527812-chr8:102618321..102621883,4	MCF-7	breast:
9	chr8:102619068..102621889-chr8:103209199..103211504,2	MCF-7	breast:
10	chr8:102527891..102529497-chr8:102619687..102621638,2	MCF-7	breast:
11	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
12	chr8:102618937..102621907-chr8:102637698..102639886,2	MCF-7	breast:
13	chr8:102594059..102599317-chr8:102614223..102621570,11	MCF-7	breast:
14	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
15	chr8:102590604..102593500-chr8:102619061..102620861,2	MCF-7	breast:
16	chr8:102539558..102541965-chr8:102618200..102620922,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083307	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000253991	Chromatin interaction
ENSG00000254024	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757285	chr8:102609474-102649681	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759635	chr8:102609474-102649681	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2761235	chr8:102613079-102646059	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2764126	chr8:102618059-102625712	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv13338	chr8:102619280-102626751	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3511009	chr8:102619876-102627874	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv8370	chr8:102620173-102626866	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3511013	chr8:102620226-102627824	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 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	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:102597400-102620600	Weak transcription	Colonic Mucosa	Colon
5	chr8:102612800-102623000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:102615000-102621600	Enhancers	Stomach Mucosa	stomach
7	chr8:102615200-102620400	Weak transcription	Esophagus	oesophagus
8	chr8:102615200-102623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:102615800-102621400	Enhancers	Fetal Intestine Small	intestine
10	chr8:102616200-102623600	Weak transcription	Right Atrium	heart
11	chr8:102616800-102643800	Weak transcription	Gastric	stomach
12	chr8:102617400-102625800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:102617600-102621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:102618000-102640800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:102618200-102620600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:102618400-102620600	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:102618400-102620600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr8:102618600-102621200	Enhancers	Fetal Lung	lung
19	chr8:102618600-102621400	Enhancers	Fetal Intestine Large	intestine
20	chr8:102618800-102621200	Enhancers	Pancreas	Pancrea
21	chr8:102618800-102622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:102619000-102620400	Enhancers	HMEC	breast
23	chr8:102619000-102620800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:102619000-102622400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:102619200-102620800	Enhancers	HUVEC	blood vessel
26	chr8:102619200-102631800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:102619400-102620600	Enhancers	HepG2	liver
28	chr8:102619400-102620800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:102619600-102620800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:102619600-102620800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:102619600-102622800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:102619600-102623200	Weak transcription	Placenta	Placenta
33	chr8:102619600-102631800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:102619800-102621000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:102619800-102656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:102620000-102620400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:102620000-102620400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr8:102620000-102620600	Enhancers	Osteobl	bone
39	chr8:102620000-102620800	Enhancers	NHEK	skin
40	chr8:102620000-102621400	Enhancers	Hela-S3	cervix
41	chr8:102620000-102625000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:102620200-102620400	Active TSS	A549	lung
43	chr8:102620200-102620600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:102620200-102620600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:102620200-102627400	Weak transcription	Placenta Amnion	Placenta Amnion

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