Variant report

Variant	rs141930530
Chromosome Location	chr8:102619804-102619805
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102617550..102620194-chr8:102645723..102647723,2	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	chr8:102607733..102610045-chr8:102616611..102619932,3	MCF-7	breast:
6	chr8:102599405..102601179-chr8:102618530..102620423,2	MCF-7	breast:
7	chr8:102619702..102621730-chr8:103818248..103820356,2	MCF-7	breast:
8	chr8:102619314..102627249-chr8:102640943..102646440,7	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	chr8:102619068..102621889-chr8:103209199..103211504,2	MCF-7	breast:
12	chr8:102527891..102529497-chr8:102619687..102621638,2	MCF-7	breast:
13	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
14	chr8:102618937..102621907-chr8:102637698..102639886,2	MCF-7	breast:
15	chr8:102618432..102620239-chr8:103613397..103615204,2	MCF-7	breast:
16	chr8:102594059..102599317-chr8:102614223..102621570,11	MCF-7	breast:
17	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
18	chr8:102590604..102593500-chr8:102619061..102620861,2	MCF-7	breast:
19	chr8:102539558..102541965-chr8:102618200..102620922,2	MCF-7	breast:

No data

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

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	chr8:102612800-102623000	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	chr8:102616600-102620000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:102616800-102643800	Weak transcription	Gastric	stomach
13	chr8:102617000-102620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:102617400-102620200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:102617400-102625800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:102617600-102621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:102618000-102620200	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr8:102618000-102640800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:102618200-102620600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:102618400-102620600	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:102618400-102620600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr8:102618600-102621200	Enhancers	Fetal Lung	lung
23	chr8:102618600-102621400	Enhancers	Fetal Intestine Large	intestine
24	chr8:102618800-102621200	Enhancers	Pancreas	Pancrea
25	chr8:102618800-102622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:102619000-102620000	Genic enhancers	NHEK	skin
27	chr8:102619000-102620200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:102619000-102620400	Enhancers	HMEC	breast
29	chr8:102619000-102620800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:102619000-102622400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:102619200-102620000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:102619200-102620800	Enhancers	HUVEC	blood vessel
33	chr8:102619200-102631800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:102619400-102620000	Enhancers	Fetal Kidney	kidney
35	chr8:102619400-102620000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr8:102619400-102620000	Flanking Active TSS	Hela-S3	cervix
37	chr8:102619400-102620600	Enhancers	HepG2	liver
38	chr8:102619400-102620800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:102619600-102620800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr8:102619600-102620800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:102619600-102622800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:102619600-102623200	Weak transcription	Placenta	Placenta
43	chr8:102619600-102631800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:102619800-102620000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:102619800-102620000	Active TSS	A549	lung
46	chr8:102619800-102621000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:102619800-102656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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