Variant report

Variant	nsv1019952
Chromosome Location	chr6:62503691-62541053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:62519001..62519629-chr6:62859955..62860555,3	MCF-7	breast:
2	chr6:62520772..62522597-chr6:62523953..62526303,2	K562	blood:
3	chr6:62518549..62519303-chr6:63600674..63601315,2	MCF-7	breast:
4	chr6:62520772..62522597-chr6:62523953..62526303,2	K562	blood:
5	chr6:62518763..62519292-chr6:62993656..62994388,2	MCF-7	breast:

Extended variants
information (count: 776 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:776 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191397439	chr6:62510602-62510603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561945620	chr6:62510654-62510655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183188432	chr6:62510707-62510708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540990994	chr6:62510710-62510711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539705514	chr6:62510835-62510836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146749277	chr6:62510903-62510904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1743449	chr6:62510920-62510921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140252006	chr6:62510925-62510926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76285305	chr6:62510937-62510938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561317841	chr6:62510983-62510984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531721859	chr6:62510985-62510986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139765454	chr6:62520019-62520020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143429044	chr6:62520020-62520021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573255163	chr6:62520037-62520038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184208659	chr6:62520080-62520081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576016195	chr6:62520102-62520103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1743457	chr6:62520127-62520128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs189083673	chr6:62520130-62520131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181255123	chr6:62520165-62520166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559970224	chr6:62521842-62521843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192467790	chr6:62521885-62521886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546942758	chr6:62521922-62521923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184855606	chr6:62521981-62521982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529320140	chr6:62522043-62522044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373231062	chr6:62522075-62522076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374939427	chr6:62522111-62522112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533059598	chr6:62522144-62522145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551084934	chr6:62522146-62522147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188845097	chr6:62522212-62522213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193186743	chr6:62522214-62522215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552011340	chr6:62522223-62522224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567136090	chr6:62522232-62522233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544832582	chr6:62522236-62522237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73476635	chr6:62522238-62522239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9453107	chr6:62522251-62522252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563190980	chr6:62522261-62522262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369354194	chr6:62522298-62522299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537890715	chr6:62522324-62522325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555840157	chr6:62522331-62522332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530707564	chr6:62522389-62522390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531947434	chr6:62522405-62522406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544766696	chr6:62522449-62522450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376954441	chr6:62522505-62522506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140145763	chr6:62522561-62522562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572231583	chr6:62522571-62522572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372940941	chr6:62522618-62522619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534307939	chr6:62522657-62522658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548901177	chr6:62522659-62522660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542539771	chr6:62522664-62522665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115166884	chr6:62522672-62522673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Ependymoma	16718352	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	21364760	CNVD
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62510600-62511000	Enhancers	Fetal Heart	heart
2	chr6:62520000-62520200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:62521800-62574000	Weak transcription	Primary B cells from cord blood	blood
4	chr6:62524200-62524800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:62524400-62525000	Enhancers	Primary hematopoietic stem cells	blood
6	chr6:62524600-62525600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:62524600-62526200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:62524800-62525800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:62525000-62525400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr6:62525400-62525800	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:62525800-62526400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:62526400-62531200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:62529600-62530000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:62530000-62534200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:62531200-62531400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:62534200-62534400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:62534400-62536200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:62536200-62536600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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