Variant report

Variant	nsv1025990
Chromosome Location	chr6:65604405-65649707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
2	chr6:65639435..65641072-chr6:65642848..65644357,2	MCF-7	breast:
3	chr6:65644339..65646278-chr6:65650850..65653473,2	K562	blood:

Extended variants
information (count: 315 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563629739	chr6:65612226-65612227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532560319	chr6:65612265-65612266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552381873	chr6:65612271-65612272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559249431	chr6:65612289-65612290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75634595	chr6:65612302-65612303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528657355	chr6:65612444-65612445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548797634	chr6:65612452-65612453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568576730	chr6:65612473-65612474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531080261	chr6:65612483-65612484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79920226	chr6:65612529-65612530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569266391	chr6:65612530-65612531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184640433	chr6:65612559-65612560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544810443	chr6:65612561-65612562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150556678	chr6:65612562-65612563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72873051	chr6:65612667-65612668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534438255	chr6:65612671-65612672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554724154	chr6:65612710-65612711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78205005	chr6:65612769-65612770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543701786	chr6:65612882-65612883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376643020	chr6:65612895-65612896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557334840	chr6:65612898-65612899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190494220	chr6:65612946-65612947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546208230	chr6:65612957-65612958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373599537	chr6:65612960-65612961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559577501	chr6:65612992-65612993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528551277	chr6:65613007-65613008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530602098	chr6:65613047-65613048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541031287	chr6:65613076-65613077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541979264	chr6:65613134-65613135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561899426	chr6:65613164-65613165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531016880	chr6:65613184-65613185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116487765	chr6:65613187-65613188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570854216	chr6:65613213-65613214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73767160	chr6:65613401-65613402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs16895989	chr6:65613486-65613487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565564926	chr6:65613490-65613491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534668543	chr6:65613527-65613528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546323809	chr6:65614019-65614020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564421517	chr6:65614021-65614022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565327893	chr6:65614060-65614061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9354190	chr6:65614089-65614090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559262498	chr6:65614093-65614094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528116731	chr6:65614107-65614108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548304099	chr6:65614112-65614113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568190357	chr6:65614119-65614120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201216249	chr6:65614165-65614166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144481540	chr6:65614173-65614174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550760364	chr6:65614175-65614176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570681979	chr6:65614210-65614211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539670846	chr6:65614216-65614217	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
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
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
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65612200-65613400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:65612600-65613400	Enhancers	Fetal Brain Female	brain
3	chr6:65613200-65613600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:65614000-65614600	Enhancers	HUVEC	blood vessel
5	chr6:65614200-65615400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:65614600-65615000	Flanking Active TSS	HUVEC	blood vessel
7	chr6:65615000-65615600	Enhancers	HUVEC	blood vessel
8	chr6:65621200-65622000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:65623600-65624400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:65623800-65624200	Enhancers	Hela-S3	cervix
11	chr6:65626000-65626800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:65626200-65626600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:65631800-65632200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:65635600-65636200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:65640600-65641000	Enhancers	Fetal Brain Female	brain
16	chr6:65640800-65642200	Weak transcription	Esophagus	oesophagus
17	chr6:65642200-65642600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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