Variant report

Variant	esv3316763
Chromosome Location	chr10:116406727-116407215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116406490..116408753-chr10:116411218..116414182,2	MCF-7	breast:
2	chr10:116406281..116408258-chr10:116409177..116411932,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11599679	chr10:116406838-116406839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11593239	chr10:116406893-116406894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112574293	chr10:116406923-116406924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568889605	chr10:116406949-116406950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372122934	chr10:116406958-116406959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2497699	chr10:116406983-116406984	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142774622	chr10:116407000-116407001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182706295	chr10:116407001-116407002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375332139	chr10:116407005-116407006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2497700	chr10:116407037-116407038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564561651	chr10:116407038-116407039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572144648	chr10:116407048-116407049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187425842	chr10:116407072-116407073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2483530	chr10:116407073-116407074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554891078	chr10:116407125-116407126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs386508591	chr10:116407127-116407128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116394400-116422600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:116395800-116408400	Weak transcription	Psoas Muscle	Psoas
3	chr10:116396200-116408800	Weak transcription	Esophagus	oesophagus
4	chr10:116397200-116409400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:116399200-116410400	Weak transcription	Brain Angular Gyrus	brain
6	chr10:116399600-116408600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr10:116399800-116413800	Weak transcription	Spleen	Spleen
8	chr10:116400200-116408600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:116402000-116408400	Weak transcription	Right Ventricle	heart
10	chr10:116402800-116407000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr10:116402800-116407000	Weak transcription	HMEC	breast
12	chr10:116403000-116408000	Weak transcription	Stomach Mucosa	stomach
13	chr10:116403200-116407200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:116403200-116408000	Weak transcription	Adipose Nuclei	Adipose
15	chr10:116403200-116412200	Weak transcription	Brain Anterior Caudate	brain
16	chr10:116404400-116407400	Enhancers	A549	lung
17	chr10:116404400-116409400	Weak transcription	Gastric	stomach
18	chr10:116404400-116411000	Enhancers	Fetal Heart	heart
19	chr10:116404600-116411200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr10:116404800-116407800	Enhancers	Hela-S3	cervix
21	chr10:116404800-116409600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr10:116404800-116412200	Weak transcription	Lung	lung
23	chr10:116405000-116407400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:116405000-116409400	Weak transcription	Pancreas	Pancrea
25	chr10:116405200-116407000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:116405200-116407000	Weak transcription	NHEK	skin
27	chr10:116405200-116413400	Weak transcription	Colonic Mucosa	Colon
28	chr10:116405600-116407200	Weak transcription	NHLF	lung
29	chr10:116405800-116408200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr10:116406000-116407200	Weak transcription	NHDF-Ad	bronchial
31	chr10:116406000-116407400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr10:116406200-116407000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:116406200-116407200	Weak transcription	Liver	Liver
34	chr10:116406200-116407600	Enhancers	Right Atrium	heart
35	chr10:116406200-116407800	Enhancers	Left Ventricle	heart
36	chr10:116406200-116408000	Enhancers	HUVEC	blood vessel
37	chr10:116406200-116412800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr10:116406200-116422000	Weak transcription	Fetal Lung	lung
39	chr10:116406400-116406800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:116406400-116407200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr10:116406400-116407200	Enhancers	Placenta	Placenta
42	chr10:116406400-116407600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr10:116406600-116407000	Weak transcription	HSMM	muscle
44	chr10:116406600-116407800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr10:116406600-116408000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:116406600-116408000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr10:116406800-116410200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr10:116407000-116407400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:116407000-116408000	Enhancers	NHEK	skin
50	chr10:116407000-116408600	Enhancers	Osteobl	bone

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