Variant report

Variant	esv3521061
Chromosome Location	chr10:1062607-1062963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1061106..1063843-chr10:1063922..1066024,3	K562	blood:
2	chr10:1048891..1050643-chr10:1061683..1063902,2	K562	blood:
3	chr10:1041252..1043166-chr10:1061792..1063880,2	K562	blood:
4	chr10:1053992..1056284-chr10:1061634..1063262,2	K562	blood:
5	chr10:1053179..1055951-chr10:1060885..1063576,2	MCF-7	breast:
6	chr10:968239..971005-chr10:1062615..1065271,2	MCF-7	breast:
7	chr10:1034396..1035928-chr10:1061826..1063377,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107937	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542713006	chr10:1062616-1062617	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553160769	chr10:1062633-1062634	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573203475	chr10:1062660-1062661	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545057531	chr10:1062685-1062686	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141435610	chr10:1062686-1062687	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs114750622	chr10:1062699-1062700	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576742906	chr10:1062775-1062776	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201880897	chr10:1062791-1062792	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543682488	chr10:1062816-1062817	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563477478	chr10:1062819-1062820	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11250223	chr10:1062905-1062906	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs41294964	chr10:1062933-1062934	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Melanoma	20877625	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	chr10:1036800-1066000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr10:1036800-1066800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr10:1036800-1066800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:1036800-1066800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:1037000-1066000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr10:1037000-1066200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr10:1037200-1066800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:1037200-1067200	Strong transcription	NHEK	skin
12	chr10:1038000-1066200	Strong transcription	HUVEC	blood vessel
13	chr10:1038000-1066200	Strong transcription	Osteobl	bone
14	chr10:1038000-1067200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:1038200-1067000	Strong transcription	HSMM	muscle
16	chr10:1038200-1067200	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr10:1038200-1067400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr10:1038400-1063800	Strong transcription	HepG2	liver
19	chr10:1038400-1064200	Strong transcription	Brain Cingulate Gyrus	brain
20	chr10:1038400-1065600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:1038400-1065600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:1038400-1066000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr10:1038400-1066200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr10:1038400-1066200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr10:1038400-1066800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:1038400-1066800	Strong transcription	HMEC	breast
27	chr10:1038600-1066200	Strong transcription	Brain Angular Gyrus	brain
28	chr10:1038600-1066800	Strong transcription	Fetal Thymus	thymus
29	chr10:1038600-1066800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr10:1038600-1067000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr10:1038600-1067200	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr10:1038600-1068000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:1038800-1064200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:1038800-1064400	Strong transcription	Left Ventricle	heart
35	chr10:1038800-1065800	Strong transcription	Brain Anterior Caudate	brain
36	chr10:1038800-1066600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr10:1038800-1067000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr10:1038800-1067400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:1038800-1067800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr10:1039000-1064200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr10:1040600-1065600	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr10:1041000-1063200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr10:1041200-1067800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:1043600-1064200	Strong transcription	Psoas Muscle	Psoas
45	chr10:1046400-1066000	Strong transcription	HSMMtube	muscle
46	chr10:1046800-1068600	Weak transcription	Right Atrium	heart
47	chr10:1047600-1067400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr10:1048200-1066200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr10:1048200-1066800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:1048200-1066800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links