Variant report

Variant	nsv947594
Chromosome Location	chr10:19342392-19376962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:19373201..19375040-chr10:19394247..19396869,2	K562	blood:
2	chr10:19369325..19371479-chr10:19375493..19377980,2	K562	blood:
3	chr10:19369325..19371479-chr10:19375493..19377980,2	K562	blood:

Extended variants
information (count: 1455 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1455 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192554015	chr10:19342407-19342408	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560707537	chr10:19342411-19342412	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183132364	chr10:19342412-19342413	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73591906	chr10:19342430-19342431	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571521210	chr10:19342438-19342439	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148128010	chr10:19342472-19342473	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550374396	chr10:19342500-19342501	Enhancers Active TSS Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569783590	chr10:19342618-19342619	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537124633	chr10:19342630-19342631	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555862271	chr10:19342684-19342685	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573950496	chr10:19342710-19342711	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35045590	chr10:19342728-19342729	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397774320	chr10:19342736-19342737	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535022721	chr10:19342755-19342756	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371408054	chr10:19342756-19342757	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370695902	chr10:19342763-19342764	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553352639	chr10:19342769-19342770	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112960886	chr10:19342785-19342786	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191915521	chr10:19342824-19342825	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527915628	chr10:19342840-19342841	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578254734	chr10:19342850-19342851	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545590953	chr10:19342873-19342874	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144018718	chr10:19342883-19342884	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575945081	chr10:19342916-19342917	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530120427	chr10:19342967-19342968	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146895329	chr10:19342989-19342990	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561083087	chr10:19343005-19343006	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528025650	chr10:19343039-19343040	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58541891	chr10:19343046-19343047	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548822243	chr10:19343093-19343094	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184934788	chr10:19343099-19343100	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189827452	chr10:19343115-19343116	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532294074	chr10:19343148-19343149	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532763476	chr10:19343178-19343179	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550489359	chr10:19343191-19343192	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114958051	chr10:19343221-19343222	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77253616	chr10:19343238-19343239	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192437230	chr10:19343243-19343244	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368663530	chr10:19343272-19343273	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559748027	chr10:19343273-19343274	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372320056	chr10:19343334-19343335	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143342199	chr10:19343357-19343358	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184414021	chr10:19343381-19343382	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189038387	chr10:19343383-19343384	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181996683	chr10:19343398-19343399	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571698643	chr10:19343399-19343400	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186295198	chr10:19343460-19343461	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557728449	chr10:19343500-19343501	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189118520	chr10:19343509-19343510	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10826891	chr10:19343525-19343526	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19340400-19342400	ZNF genes & repeats	Fetal Intestine Small	intestine
2	chr10:19342000-19342600	Strong transcription	Fetal Intestine Large	intestine
3	chr10:19342200-19342400	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr10:19342200-19342600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:19342400-19343800	Active TSS	Duodenum Mucosa	Duodenum
6	chr10:19342400-19344600	Weak transcription	Fetal Intestine Small	intestine
7	chr10:19342600-19343400	Weak transcription	Fetal Intestine Large	intestine
8	chr10:19343400-19343800	Active TSS	Fetal Intestine Large	intestine
9	chr10:19343800-19344000	Weak transcription	Fetal Intestine Large	intestine
10	chr10:19343800-19344400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:19344000-19347200	Enhancers	Fetal Intestine Large	intestine
12	chr10:19344400-19345000	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr10:19344600-19345000	Enhancers	Fetal Intestine Small	intestine
14	chr10:19345000-19345600	Enhancers	Duodenum Mucosa	Duodenum
15	chr10:19345000-19346000	Weak transcription	Fetal Intestine Small	intestine
16	chr10:19345600-19345800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr10:19345800-19346000	Enhancers	Duodenum Mucosa	Duodenum
18	chr10:19346000-19346400	Active TSS	Duodenum Mucosa	Duodenum
19	chr10:19346000-19346400	Enhancers	Fetal Intestine Small	intestine
20	chr10:19346400-19346600	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr10:19346400-19348200	Weak transcription	Fetal Intestine Small	intestine
22	chr10:19346600-19347000	Enhancers	Duodenum Mucosa	Duodenum
23	chr10:19347000-19347200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr10:19347200-19349000	Enhancers	Duodenum Mucosa	Duodenum
25	chr10:19347200-19353000	Weak transcription	Fetal Intestine Large	intestine
26	chr10:19348200-19350200	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr10:19348800-19349400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr10:19349000-19349400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr10:19349000-19349400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:19349000-19349400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr10:19349400-19349600	Enhancers	Duodenum Mucosa	Duodenum
32	chr10:19349600-19359000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr10:19350200-19351800	Weak transcription	Fetal Intestine Small	intestine
34	chr10:19351800-19352000	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr10:19352000-19353200	Weak transcription	Fetal Intestine Small	intestine
36	chr10:19353000-19353600	Enhancers	Fetal Intestine Large	intestine
37	chr10:19353200-19353600	Enhancers	Fetal Intestine Small	intestine
38	chr10:19353600-19355800	Weak transcription	Fetal Intestine Large	intestine
39	chr10:19353600-19359800	Weak transcription	Fetal Intestine Small	intestine
40	chr10:19355800-19357400	Strong transcription	Fetal Intestine Large	intestine
41	chr10:19357400-19360000	Weak transcription	Fetal Intestine Large	intestine
42	chr10:19359000-19361000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr10:19359800-19360400	Strong transcription	Fetal Intestine Small	intestine
44	chr10:19360000-19362000	Strong transcription	Fetal Intestine Large	intestine
45	chr10:19360400-19360800	Enhancers	Fetal Lung	lung
46	chr10:19360400-19363800	Weak transcription	Fetal Intestine Small	intestine
47	chr10:19361000-19368800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr10:19362000-19368400	Weak transcription	Fetal Intestine Large	intestine
49	chr10:19368400-19369000	Strong transcription	Fetal Intestine Large	intestine
50	chr10:19368800-19369600	Strong transcription	Duodenum Mucosa	Duodenum

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