Variant report

Variant	nsv1040274
Chromosome Location	chr10:54929854-54964636
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	chr10:54961525..54963201-chr10:54972554..54974128,2	K562	blood:

Extended variants
information (count: 633 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:633 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149514077	chr10:54934000-54934001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544105957	chr10:54934001-54934002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563782371	chr10:54934068-54934069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75709135	chr10:54934090-54934091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372449845	chr10:54934098-54934099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372735558	chr10:54934110-54934111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12249831	chr10:54934122-54934123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs78886051	chr10:54934125-54934126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77836553	chr10:54934144-54934145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372987453	chr10:54934205-54934206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369275020	chr10:54934240-54934241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530877722	chr10:54934262-54934263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550074440	chr10:54934272-54934273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569819438	chr10:54934304-54934305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114205883	chr10:54934313-54934314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375168325	chr10:54934331-54934332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147185272	chr10:54934342-54934343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555251895	chr10:54934363-54934364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565485875	chr10:54934394-54934395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189455030	chr10:54935002-54935003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181445132	chr10:54935027-54935028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530953923	chr10:54935043-54935044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7900439	chr10:54935107-54935108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11003440	chr10:54935109-54935110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79132799	chr10:54935131-54935132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537019806	chr10:54935166-54935167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559249319	chr10:54936826-54936827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532958147	chr10:54936851-54936852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373670353	chr10:54936878-54936879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528367164	chr10:54936906-54936907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544843345	chr10:54936920-54936921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142503285	chr10:54936937-54936938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377297534	chr10:54936941-54936942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112582324	chr10:54937000-54937001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34868951	chr10:54937025-54937026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150962252	chr10:54937029-54937030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182110292	chr10:54937052-54937053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs68049516	chr10:54937086-54937087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140763523	chr10:54937098-54937099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186887546	chr10:54937106-54937107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200921871	chr10:54937126-54937127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202229904	chr10:54937127-54937128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397742303	chr10:54937128-54937129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199557417	chr10:54937129-54937130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546601128	chr10:54937142-54937143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73352793	chr10:54937206-54937207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192589423	chr10:54937216-54937217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200289981	chr10:54937235-54937236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374640752	chr10:54937296-54937297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559255566	chr10:54937318-54937319	Enhancers	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54934000-54934400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr10:54934000-54934400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr10:54935000-54935200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:54936800-54938000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:54951400-54951600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:54951600-54960800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:54960800-54961200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:54961200-54965000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:54964200-54966000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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