Variant report

Variant	esv1067888
Chromosome Location	chr10:1055977-1056055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:1055980-1056044	GM13976	blood:	n/a	n/a
2	POLR2A	chr10:1055630-1056458	GM12892	blood:	n/a	n/a
3	POLR2A	chr10:1055689-1056375	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:1055579-1058807	GM12892	blood:	n/a	n/a
5	POLR2A	chr10:1055664-1056388	GM12891	blood:	n/a	n/a
6	POLR2A	chr10:1055612-1056369	GM12891	blood:	n/a	n/a
7	POLR2A	chr10:1055747-1056432	GM12892	blood:	n/a	n/a
8	POLR2A	chr10:1055748-1056305	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:1055771-1056229	K562	blood:	n/a	n/a
10	POLR2A	chr10:1055994-1056302	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:1055599-1056433	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:1055601-1056835	HepG2	liver:	n/a	n/a
13	POLR2A	chr10:1054790-1056448	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr10:1054218-1059008	A549	lung:	n/a	n/a
15	POLR2A	chr10:1055776-1056287	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:1055748-1056220	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr10:1055615-1056435	GM12891	blood:	n/a	n/a
18	POLR2A	chr10:1055905-1056271	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr10:1055954-1056217	HepG2	liver:	n/a	n/a
20	POLR2A	chr10:1055622-1056004	K562	blood:	n/a	n/a
21	POLR2A	chr10:1054836-1058782	GM12892	blood:	n/a	n/a
22	POLR2A	chr10:1055685-1056014	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr10:1055835-1056289	GM12891	blood:	n/a	n/a
24	POLR2A	chr10:1055911-1056307	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr10:1054785-1057747	K562	blood:	n/a	n/a
26	POLR2A	chr10:1054632-1058917	K562	blood:	n/a	n/a
27	POLR2A	chr10:1055663-1056301	Hela-S3	cervix:	n/a	n/a
28	POU2F2	chr10:1055876-1056314	GM12891	blood:	n/a	n/a
29	POU2F2	chr10:1055838-1056331	GM12878	blood:	n/a	n/a
30	POU2F2	chr10:1055885-1056312	GM12891	blood:	n/a	n/a
31	SP1	chr10:1055910-1056300	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1054711..1057336-chr10:1093694..1095483,2	MCF-7	breast:
2	chr10:1053366..1056481-chr10:1086210..1089642,3	K562	blood:
3	chr10:1053992..1056284-chr10:1061634..1063262,2	K562	blood:
4	chr10:1031655..1033355-chr10:1053764..1056440,2	K562	blood:
5	chr10:1053366..1056354-chr10:1087658..1089642,2	K562	blood:
6	chr10:1048395..1052203-chr10:1053928..1057241,3	MCF-7	breast:
7	chr10:1033201..1035981-chr10:1054777..1056323,2	MCF-7	breast:

No data

Variant related genes	Relation type
GTPBP4	TF binding region
ENSG00000047056	chromatin interactions
ENSG00000067064	chromatin interactions
ENSG00000107937	chromatin interactions
ENSG00000205740	chromatin interactions
ENSG00000238924	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559853392	chr10:1055977-1055978	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs71376877	chr10:1055978-1055979	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs576510769	chr10:1056001-1056002	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs141654304	chr10:1056005-1056006	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs562336665	chr10:1056007-1056008	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs111504385	chr10:1056013-1056014	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs369484722	chr10:1056015-1056016	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs531294759	chr10:1056025-1056026	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs548601883	chr10:1056050-1056051	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1035000-1094000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:1035800-1066200	Strong transcription	NH-A	brain
3	chr10:1036000-1066800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:1036200-1061800	Weak transcription	Stomach Mucosa	stomach
5	chr10:1036800-1066000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr10:1036800-1066800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:1036800-1066800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:1036800-1066800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:1037000-1066000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr10:1037000-1066200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr10:1037200-1066800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:1037200-1067200	Strong transcription	NHEK	skin
13	chr10:1038000-1066200	Strong transcription	HUVEC	blood vessel
14	chr10:1038000-1066200	Strong transcription	Osteobl	bone
15	chr10:1038000-1067200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:1038200-1067000	Strong transcription	HSMM	muscle
17	chr10:1038200-1067200	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr10:1038200-1067400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:1038400-1063800	Strong transcription	HepG2	liver
20	chr10:1038400-1064200	Strong transcription	Brain Cingulate Gyrus	brain
21	chr10:1038400-1065600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:1038400-1065600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr10:1038400-1066000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr10:1038400-1066200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr10:1038400-1066200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr10:1038400-1066800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:1038400-1066800	Strong transcription	HMEC	breast
28	chr10:1038600-1066200	Strong transcription	Brain Angular Gyrus	brain
29	chr10:1038600-1066800	Strong transcription	Fetal Thymus	thymus
30	chr10:1038600-1066800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:1038600-1067000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr10:1038600-1067200	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr10:1038600-1068000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:1038800-1059600	Strong transcription	Lung	lung
35	chr10:1038800-1064200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:1038800-1064400	Strong transcription	Left Ventricle	heart
37	chr10:1038800-1065800	Strong transcription	Brain Anterior Caudate	brain
38	chr10:1038800-1066600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
39	chr10:1038800-1067000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr10:1038800-1067400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:1038800-1067800	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr10:1039000-1060000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:1039000-1064200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr10:1040600-1058800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr10:1040600-1065600	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr10:1041000-1063200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr10:1041200-1067800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:1043600-1064200	Strong transcription	Psoas Muscle	Psoas
49	chr10:1046400-1066000	Strong transcription	HSMMtube	muscle
50	chr10:1046800-1068600	Weak transcription	Right Atrium	heart

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