Variant report

Variant	nsv967028
Chromosome Location	chr3:75930956-75937386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538101680	chr3:75932600-75932601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117014588	chr3:75932601-75932602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571307660	chr3:75932614-75932615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376835102	chr3:75932651-75932652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547646037	chr3:75932688-75932689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538632546	chr3:75932692-75932693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111900936	chr3:75932698-75932699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572151375	chr3:75932760-75932761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540494438	chr3:75932763-75932764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545885980	chr3:75932784-75932785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377650054	chr3:75932825-75932826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573522717	chr3:75932829-75932830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574262777	chr3:75932839-75932840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544843955	chr3:75932895-75932896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563038493	chr3:75932896-75932897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533187807	chr3:75932938-75932939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181314936	chr3:75932989-75932990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370892695	chr3:75933009-75933010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147136348	chr3:75933014-75933015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13078223	chr3:75933043-75933044	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs567405807	chr3:75933048-75933049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141038666	chr3:75933055-75933056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550086968	chr3:75933062-75933063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186321665	chr3:75933069-75933070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141561209	chr3:75933151-75933152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547390253	chr3:75933152-75933153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368819877	chr3:75933154-75933155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150879611	chr3:75933226-75933227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139338706	chr3:75933229-75933230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190690787	chr3:75933255-75933256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150033913	chr3:75933269-75933270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545976498	chr3:75933321-75933322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564474507	chr3:75933338-75933339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182865892	chr3:75933351-75933352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13078579	chr3:75933419-75933420	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs75638308	chr3:75933434-75933435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186414726	chr3:75933447-75933448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375092918	chr3:75933491-75933492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545016477	chr3:75933524-75933525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560074652	chr3:75933538-75933539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572208154	chr3:75933540-75933541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575072686	chr3:75933590-75933591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543152949	chr3:75933688-75933689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561212598	chr3:75933695-75933696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190967957	chr3:75933805-75933806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534423429	chr3:75933820-75933821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565201790	chr3:75933895-75933896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532415970	chr3:75933915-75933916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547426952	chr3:75933923-75933924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146591447	chr3:75933925-75933926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75932600-75933800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr3:75932800-75933400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:75933400-75936200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:75933800-75940400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:75936200-75936400	Enhancers	HUES64 Cell Line	embryonic stem cell

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