Variant report

Variant	esv3398894
Chromosome Location	chr10:54860306-54860838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 64 )

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	rs546511274	chr10:54860320-54860321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374504099	chr10:54860334-54860335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76806898	chr10:54860335-54860336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199680798	chr10:54860341-54860342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146597526	chr10:54860367-54860368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11003382	chr10:54860380-54860381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545505786	chr10:54860382-54860383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565198881	chr10:54860409-54860410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530945120	chr10:54860419-54860420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537704129	chr10:54860420-54860421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550514200	chr10:54860454-54860455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563291605	chr10:54860464-54860465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529143278	chr10:54860479-54860480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527299826	chr10:54860480-54860481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141439039	chr10:54860500-54860501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548800915	chr10:54860509-54860510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114223891	chr10:54860512-54860513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528248298	chr10:54860595-54860596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551472616	chr10:54860596-54860597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571205103	chr10:54860614-54860615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11003383	chr10:54860616-54860617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11003384	chr10:54860628-54860629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181708699	chr10:54860630-54860631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113332499	chr10:54860645-54860646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553361355	chr10:54860649-54860650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113693645	chr10:54860695-54860696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573399745	chr10:54860750-54860751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545231428	chr10:54860782-54860783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199721093	chr10:54860821-54860822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200861089	chr10:54860822-54860823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112464950	chr10:54860823-54860824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201676047	chr10:54860824-54860825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	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
Metanephric adenoma	20802469	CNVD
Autism	20841430	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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54845200-54865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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