Variant report

Variant	esv8746
Chromosome Location	chr10:119219006-119219667
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	chr10:119202992..119204778-chr10:119219180..119221584,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs242978	chr10:119219018-119219019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544881998	chr10:119219031-119219032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200443547	chr10:119219106-119219107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369057838	chr10:119219108-119219109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531939269	chr10:119219110-119219111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551934641	chr10:119219111-119219112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571787284	chr10:119219129-119219130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369132837	chr10:119219130-119219131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376113133	chr10:119219131-119219132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372497535	chr10:119219133-119219134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201302910	chr10:119219137-119219138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2768318	chr10:119219138-119219139	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2532642	chr10:119219139-119219140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs368531794	chr10:119219140-119219141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188353130	chr10:119219149-119219150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190164331	chr10:119219164-119219165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371244996	chr10:119219176-119219177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374192678	chr10:119219177-119219178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7088925	chr10:119219182-119219183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368093637	chr10:119219183-119219184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371574494	chr10:119219186-119219187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373845735	chr10:119219192-119219193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529345312	chr10:119219272-119219273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535105068	chr10:119219304-119219305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554975926	chr10:119219308-119219309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551095595	chr10:119219335-119219336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs242977	chr10:119219380-119219381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537793789	chr10:119219387-119219388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557930188	chr10:119219396-119219397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577766684	chr10:119219397-119219398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540682692	chr10:119219403-119219404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560584410	chr10:119219404-119219405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs242976	chr10:119219405-119219406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543021258	chr10:119219412-119219413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562902447	chr10:119219422-119219423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577864772	chr10:119219436-119219437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534034498	chr10:119219437-119219438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113166484	chr10:119219440-119219441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551832365	chr10:119219441-119219442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551711927	chr10:119219446-119219447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187495815	chr10:119219480-119219481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192699460	chr10:119219528-119219529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2478970	chr10:119219548-119219549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534532739	chr10:119219580-119219581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200384140	chr10:119219581-119219582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139333936	chr10:119219632-119219633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139268595	chr10:119219643-119219644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
small cell lung cancer	20016488	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	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
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apert syndrome	21572526	CNVD
Macular degeneration	22558131	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Muscular dystrophy	21149563	CNVD
Honadal dysgenesis	21048976	CNVD
Glioma	18556773	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:119215000-119220600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr10:119216400-119220400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:119216800-119220400	Weak transcription	Osteobl	bone
4	chr10:119216800-119221200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:119217000-119220400	Weak transcription	HMEC	breast
6	chr10:119217000-119220600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:119217200-119219200	Enhancers	Colon Smooth Muscle	Colon
8	chr10:119217200-119221200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:119217600-119220400	Weak transcription	NHEK	skin
10	chr10:119218000-119220400	Weak transcription	NHDF-Ad	bronchial
11	chr10:119218000-119220600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:119218000-119220600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:119218000-119220800	Weak transcription	Esophagus	oesophagus
14	chr10:119218000-119221000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:119218000-119221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:119218200-119220600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:119218400-119220600	Weak transcription	A549	lung
18	chr10:119218800-119219200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:119218800-119219800	Weak transcription	Hela-S3	cervix
20	chr10:119218800-119220400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr10:119218800-119220400	Weak transcription	HUVEC	blood vessel
22	chr10:119219200-119219800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:119219200-119219800	Weak transcription	Colon Smooth Muscle	Colon

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