Variant report

Variant	esv14809
Chromosome Location	chr10:50984838-50985680
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	chr10:50983400..50985274-chr10:50988322..50989889,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562912751	chr10:50984845-50984846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531884510	chr10:50984857-50984858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550202201	chr10:50984868-50984869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372908629	chr10:50984898-50984899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529447508	chr10:50984905-50984906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116138411	chr10:50984942-50984943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566199613	chr10:50984983-50984984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190373834	chr10:50984993-50984994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558190972	chr10:50985007-50985008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572137672	chr10:50985016-50985017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570019154	chr10:50985023-50985024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144013978	chr10:50985040-50985041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555365776	chr10:50985052-50985053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573814951	chr10:50985068-50985069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182183081	chr10:50985071-50985072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540849855	chr10:50985072-50985073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553106494	chr10:50985077-50985078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536227981	chr10:50985136-50985137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375097137	chr10:50985172-50985173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577336403	chr10:50985220-50985221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369491789	chr10:50985243-50985244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7091448	chr10:50985245-50985246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs140014505	chr10:50985248-50985249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574882563	chr10:50985257-50985258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185494968	chr10:50985286-50985287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543989527	chr10:50985328-50985329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367834662	chr10:50985329-50985330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562220393	chr10:50985434-50985435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111421012	chr10:50985444-50985445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147257381	chr10:50985445-50985446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559944736	chr10:50985448-50985449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192249315	chr10:50985460-50985461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140714990	chr10:50985464-50985465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570106419	chr10:50985479-50985480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144575018	chr10:50985538-50985539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546221613	chr10:50985572-50985573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115687793	chr10:50985593-50985594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183672664	chr10:50985595-50985596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189069931	chr10:50985652-50985653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
XY gonadal dysgenesis	20685758	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50980800-50991800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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