Variant report

Variant	nsv1018676
Chromosome Location	chr6:64867241-64904764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:64898967..64901155-chr6:64903465..64905780,2	K562	blood:
2	chr20:46132660..46133356-chr6:64886601..64887388,2	MCF-7	breast:
3	chr6:64898967..64901155-chr6:64903465..64905780,2	K562	blood:
4	chr6:64825086..64826621-chr6:64878332..64879949,2	K562	blood:
5	chr12:81340169..81340734-chr6:64895212..64895734,2	MCF-7	breast:

Extended variants
information (count: 526 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555130132	chr6:64867258-64867259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3013160	chr6:64867268-64867269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs13190948	chr6:64867284-64867285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145959249	chr6:64867294-64867295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546037600	chr6:64867306-64867307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564745015	chr6:64867332-64867333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528577235	chr6:64867348-64867349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139877895	chr6:64867383-64867384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183083712	chr6:64867387-64867388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529217451	chr6:64867423-64867424	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543595014	chr6:64867426-64867427	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116411853	chr6:64867460-64867461	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533267269	chr6:64867462-64867463	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551282339	chr6:64867470-64867471	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115444267	chr6:64867510-64867511	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561916890	chr6:64867511-64867512	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533634961	chr6:64867543-64867544	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555467434	chr6:64867576-64867577	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567388030	chr6:64867604-64867605	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116311730	chr6:64867638-64867639	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556202265	chr6:64867677-64867678	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373263541	chr6:64867705-64867706	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546524758	chr6:64867740-64867741	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558050558	chr6:64867757-64867758	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149700513	chr6:64867771-64867772	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540445093	chr6:64867783-64867784	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113309848	chr6:64867785-64867786	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186835503	chr6:64867789-64867790	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116212426	chr6:64867794-64867795	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562589121	chr6:64867816-64867817	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148414129	chr6:64867852-64867853	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142457555	chr6:64867853-64867854	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191310086	chr6:64867856-64867857	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147958462	chr6:64867863-64867864	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549201129	chr6:64867867-64867868	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116002519	chr6:64867881-64867882	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537978066	chr6:64868037-64868038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112042742	chr6:64868046-64868047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79673864	chr6:64868047-64868048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559613574	chr6:64868049-64868050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182173015	chr6:64868086-64868087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141706528	chr6:64868102-64868103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573481364	chr6:64868212-64868213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201174950	chr6:64868253-64868254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61699150	chr6:64868254-64868255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555551258	chr6:64868288-64868289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79762183	chr6:64868302-64868303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193059556	chr6:64868316-64868317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562723859	chr6:64868319-64868320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533323437	chr6:64868385-64868386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
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
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64863200-64869600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:64865600-64869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:64867400-64867600	Enhancers	Gastric	stomach
4	chr6:64867400-64868000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:64869600-64871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:64869800-64871600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:64879600-64880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:64879800-64880600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:64880200-64881000	Enhancers	Fetal Lung	lung
10	chr6:64880600-64885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:64880600-64885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:64885200-64885800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:64885200-64886000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:64895800-64896400	Enhancers	Fetal Lung	lung
15	chr6:64896400-64897000	Flanking Active TSS	Fetal Lung	lung
16	chr6:64897000-64897800	Enhancers	Fetal Lung	lung

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