Variant report

Variant	esv2620549
Chromosome Location	chr10:50548155-50549524
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	chr10:50543997..50546975-chr10:50547216..50549247,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186219935	chr10:50548168-50548169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs375906219	chr10:50548200-50548201	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs146935950	chr10:50548203-50548204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61113760	chr10:50548225-50548226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567000687	chr10:50548249-50548250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552523457	chr10:50548257-50548258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570907543	chr10:50548258-50548259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377369149	chr10:50548265-50548266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113319685	chr10:50548280-50548281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549761335	chr10:50548286-50548287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555821160	chr10:50548302-50548303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183937987	chr10:50548361-50548362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544203114	chr10:50548377-50548378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554049478	chr10:50548430-50548431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10776561	chr10:50548437-50548438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539600548	chr10:50548468-50548469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56165245	chr10:50548473-50548474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190331977	chr10:50548495-50548496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183013470	chr10:50548505-50548506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555355264	chr10:50548506-50548507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186993789	chr10:50548508-50548509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138006463	chr10:50548512-50548513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542124683	chr10:50548534-50548535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560816251	chr10:50548535-50548536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12248405	chr10:50548578-50548579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75165682	chr10:50548592-50548593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577603837	chr10:50548599-50548600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540372242	chr10:50548652-50548653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534022147	chr10:50548659-50548660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191810227	chr10:50548693-50548694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114846505	chr10:50548731-50548732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564386587	chr10:50548745-50548746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111249637	chr10:50548747-50548748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531644822	chr10:50548800-50548801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	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
Hypotonia	21948486	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50540200-50548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:50548000-50548200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:50548200-50548800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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