Variant report

Variant	esv3321251
Chromosome Location	chr10:713965-714190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr10:713008-714600	U2OS	brain:	n/a	n/a
2	MAX	chr10:713868-714036	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:713905-714580	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:713541-714399	HepG2	liver:	n/a	n/a
5	POLR2A	chr10:713657-714026	HepG2	liver:	n/a	n/a
6	SUZ12	chr10:713484-714088	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000272992	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566432268	chr10:713969-713970	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs187635379	chr10:713971-713972	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs570579935	chr10:713984-713985	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs552878961	chr10:714005-714006	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs569589429	chr10:714017-714018	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs386739763	chr10:714019-714020	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs28971758	chr10:714020-714021	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555173095	chr10:714029-714030	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs568459505	chr10:714038-714039	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs534343063	chr10:714100-714101	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs568992352	chr10:714118-714119	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs553984664	chr10:714125-714126	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574510960	chr10:714137-714138	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576797807	chr10:714148-714149	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs545809049	chr10:714149-714150	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558414004	chr10:714156-714157	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs148116286	chr10:714168-714169	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs577512958	chr10:714180-714181	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs575187387	chr10:714187-714188	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:698400-723800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:708400-716000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:708400-716000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:708400-716000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:709200-716000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:709800-716000	Weak transcription	Spleen	Spleen
7	chr10:710200-723800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:711000-718000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:711600-716000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:712000-714200	Enhancers	Right Ventricle	heart
11	chr10:712000-714400	Enhancers	Pancreas	Pancrea
12	chr10:712000-714800	Weak transcription	Stomach Mucosa	stomach
13	chr10:712000-716000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:712000-723600	Weak transcription	Aorta	Aorta
15	chr10:712000-723800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:712200-714800	Enhancers	Rectal Smooth Muscle	rectum
17	chr10:712200-715000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr10:712200-725600	Weak transcription	Fetal Intestine Small	intestine
19	chr10:712400-715200	Weak transcription	Lung	lung
20	chr10:712400-715800	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:712800-715800	Weak transcription	NHLF	lung
22	chr10:712800-716000	Enhancers	Brain Hippocampus Middle	brain
23	chr10:712800-726000	Weak transcription	Fetal Stomach	stomach
24	chr10:713000-714000	Enhancers	Fetal Brain Female	brain
25	chr10:713000-714000	Enhancers	Left Ventricle	heart
26	chr10:713000-714800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr10:713000-716400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr10:713000-716400	Enhancers	Stomach Smooth Muscle	stomach
29	chr10:713200-714000	Enhancers	Esophagus	oesophagus
30	chr10:713200-714000	Genic enhancers	Fetal Brain Male	brain
31	chr10:713200-714000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr10:713200-714400	Enhancers	Gastric	stomach
33	chr10:713200-714600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:713200-715400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:713200-715400	Enhancers	Psoas Muscle	Psoas
36	chr10:713200-716400	Enhancers	Brain Cingulate Gyrus	brain
37	chr10:713200-716400	Enhancers	Ovary	ovary
38	chr10:713400-714000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr10:713400-714000	Enhancers	Right Atrium	heart
40	chr10:713400-714200	Genic enhancers	Brain Substantia Nigra	brain
41	chr10:713400-714600	Enhancers	Brain Germinal Matrix	brain
42	chr10:713400-714600	ZNF genes & repeats	Fetal Kidney	kidney
43	chr10:713400-714800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:713400-716000	Enhancers	Colon Smooth Muscle	Colon
45	chr10:713400-716400	Enhancers	Brain Anterior Caudate	brain
46	chr10:713400-728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:713600-714200	Genic enhancers	Brain Angular Gyrus	brain
48	chr10:713600-714400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:713600-714600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:713600-714600	Transcr. at gene 5' and 3'	Fetal Lung	lung

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