Variant report

Variant	nsv969470
Chromosome Location	chr6:167771305-167782995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 504 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:504 , 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	rs114556313	chr6:167771337-167771338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190699668	chr6:167771343-167771344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149804491	chr6:167771358-167771359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531130805	chr6:167771366-167771367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374416843	chr6:167771391-167771392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184189304	chr6:167771399-167771400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4616972	chr6:167771426-167771427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375650628	chr6:167771509-167771510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568077655	chr6:167771576-167771577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529280199	chr6:167771580-167771581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548440873	chr6:167771585-167771586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530907958	chr6:167771597-167771598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549112504	chr6:167771653-167771654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111471623	chr6:167771696-167771697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537363661	chr6:167771706-167771707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558422342	chr6:167771714-167771715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567692100	chr6:167771728-167771729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534788147	chr6:167771773-167771774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371884463	chr6:167771839-167771840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143653478	chr6:167771848-167771849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546717306	chr6:167771870-167771871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553140421	chr6:167771898-167771899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574463275	chr6:167771907-167771908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535490982	chr6:167771918-167771919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200087513	chr6:167771945-167771946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373779341	chr6:167772013-167772014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367947450	chr6:167772071-167772072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28710995	chr6:167772119-167772120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9456270	chr6:167772185-167772186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs569853705	chr6:167772188-167772189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112483673	chr6:167772195-167772196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550663522	chr6:167772234-167772235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150977644	chr6:167772248-167772249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28698446	chr6:167772262-167772263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552462989	chr6:167772265-167772266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397832217	chr6:167772270-167772271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190785453	chr6:167772272-167772273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73788619	chr6:167772294-167772295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368658061	chr6:167772297-167772298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568200921	chr6:167772302-167772303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535553848	chr6:167772314-167772315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111432137	chr6:167772327-167772328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556636624	chr6:167772355-167772356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575216356	chr6:167772377-167772378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539708802	chr6:167772412-167772413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541108594	chr6:167772420-167772421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558462553	chr6:167772441-167772442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573076724	chr6:167772442-167772443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76155736	chr6:167772479-167772480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540468989	chr6:167772533-167772534	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167771000-167771400	Enhancers	Brain Germinal Matrix	brain
2	chr6:167771200-167772400	Weak transcription	Fetal Brain Male	brain
3	chr6:167772400-167772600	Enhancers	Fetal Brain Male	brain
4	chr6:167774600-167774800	Enhancers	HepG2	liver
5	chr6:167775200-167775600	Enhancers	Pancreas	Pancrea
6	chr6:167775200-167776600	Weak transcription	HepG2	liver
7	chr6:167776600-167777000	Enhancers	HepG2	liver
8	chr6:167777000-167784800	Weak transcription	HepG2	liver
9	chr6:167780600-167781400	Enhancers	Fetal Thymus	thymus

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