Variant report

Variant	nsv604916
Chromosome Location	chr6:153777546-153810803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:153803007..153804639-chr6:153864655..153867623,2	K562	blood:
2	chr1:109931233..109932150-chr6:153783458..153784309,2	MCF-7	breast:
3	chr6:153801852..153804495-chr6:153807281..153809630,2	K562	blood:
4	chr6:153806444..153808679-chr6:153811134..153812918,2	MCF-7	breast:
5	chr6:153801852..153804495-chr6:153807281..153809630,2	K562	blood:

Extended variants
information (count: 433 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199857393	chr6:153781410-153781411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10485216	chr6:153781434-153781435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs143625405	chr6:153781451-153781452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146779958	chr6:153781463-153781464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535948865	chr6:153781476-153781477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190550974	chr6:153781542-153781543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572781858	chr6:153781549-153781550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140522202	chr6:153781587-153781588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546753784	chr6:153781622-153781623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377382004	chr6:153781639-153781640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546003940	chr6:153781660-153781661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182993354	chr6:153781678-153781679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13197698	chr6:153781680-153781681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574957370	chr6:153781710-153781711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541973422	chr6:153781816-153781817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17084121	chr6:153781862-153781863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150425883	chr6:153781874-153781875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114579660	chr6:153781916-153781917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145356485	chr6:153781920-153781921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149179735	chr6:153781976-153781977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182400937	chr6:153782038-153782039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568340803	chr6:153782042-153782043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555422320	chr6:153782065-153782066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548006364	chr6:153782075-153782076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575295843	chr6:153782086-153782087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566457370	chr6:153782135-153782136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533590778	chr6:153782160-153782161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537804827	chr6:153782179-153782180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558530875	chr6:153782185-153782186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570712144	chr6:153782195-153782196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77723448	chr6:153782219-153782220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17308647	chr6:153782247-153782248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574718755	chr6:153782248-153782249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542288014	chr6:153782265-153782266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187885162	chr6:153782294-153782295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375311600	chr6:153782326-153782327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62436390	chr6:153782352-153782353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62436391	chr6:153782363-153782364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs68000580	chr6:153782378-153782379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564145415	chr6:153782401-153782402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530625070	chr6:153782459-153782460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139314510	chr6:153782485-153782486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12526771	chr6:153782560-153782561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561922053	chr6:153782576-153782577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529506980	chr6:153782587-153782588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193048759	chr6:153782613-153782614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557582091	chr6:153782640-153782641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573865552	chr6:153782643-153782644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566403066	chr6:153782697-153782698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35589255	chr6:153782727-153782728	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:153781400-153783200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:153783200-153783800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:153783800-153784000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:153800200-153801000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:153801000-153804000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:153803600-153806400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:153804000-153805400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:153805200-153806000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:153805400-153808200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:153806400-153806800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:153808200-153810400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:153810400-153812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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