Variant report

Variant	esv3386200
Chromosome Location	chr10:978542-978793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr10:977885-978648	HepG2	liver:	n/a	chr10:977945-977960
2	POLR2A	chr10:978680-979058	K562	blood:	n/a	n/a
3	POLR2A	chr10:978492-978545	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr10:977299-979229	K562	blood:	n/a	n/a
5	POLR2A	chr10:978128-978663	A549	lung:	n/a	n/a
6	POLR2A	chr10:978608-978619	MCF-7	breast:	n/a	n/a
7	POLR2A	chr10:976657-978728	A549	lung:	n/a	n/a
8	POLR2A	chr10:978641-978708	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr10:978314-978685	A549	lung:	n/a	n/a
10	POLR2A	chr10:978476-979217	HepG2	liver:	n/a	n/a
11	POLR2A	chr10:978716-978833	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr10:976451-978680	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:977357-978585	GM12892	blood:	n/a	n/a
14	POLR2A	chr10:978783-979076	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr10:978628-978689	MCF-7	breast:	n/a	n/a
16	POLR2A	chr10:978594-978638	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr10:977222-978687	A549	lung:	n/a	n/a
18	POLR2A	chr10:978694-979589	K562	blood:	n/a	n/a
19	POLR2A	chr10:976659-978611	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:978713-979493	GM12878	blood:	n/a	n/a
21	ZBTB7A	chr10:978585-978699	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:974636..980819-chr10:1029938..1037009,15	MCF-7	breast:
2	chr10:976553..979064-chr17:56707717..56709888,2	MCF-7	breast:
3	chr10:977031..978658-chr10:1101205..1103073,2	K562	blood:
4	chr10:975330..979545-chr10:1093428..1097529,6	K562	blood:
5	chr10:976566..978917-chr20:33411823..33413821,2	MCF-7	breast:
6	chr10:976200..979208-chr10:1093606..1097726,5	MCF-7	breast:
7	chr10:976152..979108-chr10:1085303..1088696,4	MCF-7	breast:
8	chr10:974439..980732-chr10:1030011..1038533,28	MCF-7	breast:
9	chr10:975309..980832-chr10:1031626..1035973,12	K562	blood:
10	chr10:976647..980794-chr10:1093154..1097319,8	MCF-7	breast:
11	chr10:975582..978698-chr10:1119494..1122267,3	MCF-7	breast:
12	chr10:976344..979673-chr10:1032747..1036349,14	K562	blood:
13	chr10:975330..979257-chr10:1093215..1097529,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTPBP4-3	chr10:978420-978683	NONHSAT010879

No data

Variant related genes	Relation type
ENSG00000229869	TF binding region
LARP4B	TF binding region
ENSG00000205740	chromatin interactions
ENSG00000107937	chromatin interactions
ENSG00000067064	chromatin interactions
ENSG00000198646	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000047056	chromatin interactions
ENSG00000238924	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536650013	chr10:978610-978611	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
2	rs556538387	chr10:978662-978663	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
3	rs574038777	chr10:978672-978673	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
4	rs536535455	chr10:978698-978699	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs553560318	chr10:978703-978704	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs573380021	chr10:978717-978718	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:975200-979200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:975600-978800	Active TSS	Psoas Muscle	Psoas
3	chr10:975600-979000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:976000-978600	Active TSS	Ovary	ovary
5	chr10:976200-978600	Active TSS	Left Ventricle	heart
6	chr10:976200-978600	Active TSS	Right Atrium	heart
7	chr10:976200-978600	Active TSS	Hela-S3	cervix
8	chr10:976200-978800	Active TSS	Right Ventricle	heart
9	chr10:976200-978800	Active TSS	A549	lung
10	chr10:976200-979000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr10:976200-979000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:976200-979000	Active TSS	HSMM	muscle
13	chr10:976400-978600	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr10:976400-978800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:976400-979000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr10:976400-979200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:976600-978600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:976600-978600	Active TSS	Fetal Brain Female	brain
19	chr10:976600-978600	Active TSS	Dnd41	blood
20	chr10:976600-978800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:976600-979000	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr10:976600-979200	Active TSS	HMEC	breast
23	chr10:976800-978800	Active TSS	Thymus	Thymus
24	chr10:976800-978800	Active TSS	HepG2	liver
25	chr10:977200-978800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:977200-978800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:978200-978800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:978200-978800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr10:978200-978800	Weak transcription	Colon Smooth Muscle	Colon
30	chr10:978200-978800	Weak transcription	Gastric	stomach
31	chr10:978200-978800	Weak transcription	NHDF-Ad	bronchial
32	chr10:978200-979000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:978200-979000	Weak transcription	Adipose Nuclei	Adipose
34	chr10:978200-979000	Weak transcription	Fetal Lung	lung
35	chr10:978200-979000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr10:978200-979000	Weak transcription	HSMMtube	muscle
37	chr10:978200-979400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:978200-980200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr10:978200-980600	Weak transcription	Fetal Kidney	kidney
40	chr10:978200-985000	Weak transcription	Spleen	Spleen
41	chr10:978200-985400	Weak transcription	Brain Angular Gyrus	brain
42	chr10:978400-978600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:978400-978600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr10:978400-978600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr10:978400-978600	Weak transcription	Placenta	Placenta
46	chr10:978400-978600	Weak transcription	Pancreas	Pancrea
47	chr10:978400-978600	Weak transcription	K562	blood
48	chr10:978400-978800	Enhancers	Primary B cells from cord blood	blood
49	chr10:978400-978800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr10:978400-978800	Weak transcription	Brain Anterior Caudate	brain

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