Variant report

Variant	rs72674252
Chromosome Location	chr8:102618572-102618573
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102607349..102609385-chr8:102616212..102618619,2	MCF-7	breast:
2	chr8:102617567..102619221-chr8:102642834..102644728,2	MCF-7	breast:
3	chr8:102617550..102620194-chr8:102645723..102647723,2	MCF-7	breast:
4	chr8:102618309..102622005-chr8:102635683..102639742,4	MCF-7	breast:
5	chr8:102618200..102620350-chr8:102623909..102626355,2	K562	blood:
6	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
7	chr8:102607733..102610045-chr8:102616611..102619932,3	MCF-7	breast:
8	chr8:102599405..102601179-chr8:102618530..102620423,2	MCF-7	breast:
9	chr8:102524405..102527812-chr8:102618321..102621883,4	MCF-7	breast:
10	chr8:102448412..102450698-chr8:102617075..102619900,3	MCF-7	breast:
11	chr8:102591202..102591897-chr8:102618452..102619177,2	MCF-7	breast:
12	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
13	chr8:102618432..102620239-chr8:103613397..103615204,2	MCF-7	breast:
14	chr8:102594059..102599317-chr8:102614223..102621570,11	MCF-7	breast:
15	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
16	chr8:102344261..102346988-chr8:102617766..102619760,2	MCF-7	breast:
17	chr8:102371583..102375357-chr8:102617580..102619595,4	MCF-7	breast:
18	chr8:102539558..102541965-chr8:102618200..102620922,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254024	Chromatin interaction
ENSG00000253991	Chromatin interaction
ENSG00000228224	Chromatin interaction
ENSG00000083307	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:47 , 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	chr8:102600600-102619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:102612800-102623000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:102613000-102618800	Weak transcription	Pancreas	Pancrea
8	chr8:102614800-102619000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:102614800-102619000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:102615000-102619800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:102615000-102621600	Enhancers	Stomach Mucosa	stomach
12	chr8:102615200-102618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:102615200-102620400	Weak transcription	Esophagus	oesophagus
14	chr8:102615200-102623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:102615800-102621400	Enhancers	Fetal Intestine Small	intestine
16	chr8:102616200-102623600	Weak transcription	Right Atrium	heart
17	chr8:102616600-102619400	Weak transcription	Small Intestine	intestine
18	chr8:102616600-102620000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:102616800-102618600	Weak transcription	Fetal Lung	lung
20	chr8:102616800-102618800	Weak transcription	Fetal Kidney	kidney
21	chr8:102616800-102619200	Weak transcription	HUVEC	blood vessel
22	chr8:102616800-102643800	Weak transcription	Gastric	stomach
23	chr8:102617000-102618600	Weak transcription	Hela-S3	cervix
24	chr8:102617000-102619000	Weak transcription	HMEC	breast
25	chr8:102617000-102619200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:102617000-102620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:102617200-102618800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:102617200-102619000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:102617200-102619000	Strong transcription	NHEK	skin
30	chr8:102617200-102619400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:102617400-102620200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:102617400-102625800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:102617600-102618600	Weak transcription	Fetal Intestine Large	intestine
34	chr8:102617600-102619000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr8:102617600-102621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:102618000-102619600	Strong transcription	Placenta	Placenta
37	chr8:102618000-102620200	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr8:102618000-102640800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:102618200-102619800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr8:102618200-102620600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:102618400-102618800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:102618400-102619000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:102618400-102619000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:102618400-102619400	Enhancers	A549	lung
45	chr8:102618400-102619800	Enhancers	GM12878-XiMat	blood
46	chr8:102618400-102620600	Enhancers	Duodenum Mucosa	Duodenum
47	chr8:102618400-102620600	Enhancers	Rectal Mucosa Donor 31	rectum

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