Variant report

Variant	esv3414975
Chromosome Location	chr10:52934892-52935394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574692450	chr10:52934893-52934894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75158587	chr10:52934904-52934905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553310408	chr10:52934932-52934933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60267776	chr10:52934950-52934951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397711354	chr10:52934951-52934952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9414861	chr10:52934962-52934963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576825271	chr10:52934981-52934982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538856319	chr10:52934984-52934985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16914983	chr10:52934993-52934994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545486302	chr10:52935010-52935011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575682377	chr10:52935014-52935015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545014098	chr10:52935056-52935057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554712529	chr10:52935059-52935060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575067989	chr10:52935063-52935064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181782707	chr10:52935069-52935070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560435247	chr10:52935081-52935082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368705772	chr10:52935150-52935151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559070456	chr10:52935180-52935181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56995689	chr10:52935226-52935227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2339731	chr10:52935244-52935245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185960815	chr10:52935259-52935260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74131795	chr10:52935286-52935287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190617994	chr10:52935296-52935297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567113798	chr10:52935297-52935298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541146021	chr10:52935302-52935303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181682081	chr10:52935310-52935311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546885027	chr10:52935317-52935318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11818857	chr10:52935319-52935320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138373898	chr10:52935320-52935321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149255454	chr10:52935361-52935362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115100066	chr10:52935366-52935367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537995400	chr10:52935368-52935369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	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
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52910600-52942400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr10:52929800-52944600	Weak transcription	Left Ventricle	heart
3	chr10:52931000-52936400	Weak transcription	HSMM	muscle
4	chr10:52931400-52936200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:52931400-52936400	Weak transcription	HSMMtube	muscle
6	chr10:52931600-52936400	Weak transcription	NHLF	lung
7	chr10:52931600-52936600	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:52931800-52936400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr10:52932200-52936400	Weak transcription	Osteobl	bone
10	chr10:52932400-52936400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:52932600-52936400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:52932600-52936400	Weak transcription	NHDF-Ad	bronchial
13	chr10:52934600-52937200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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