Variant report

Variant	nsv876847
Chromosome Location	chr3:60352975-60382828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
2	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
3	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
4	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
5	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
6	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
7	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:

Extended variants
information (count: 472 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6768883	chr3:60352975-60352976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547872709	chr3:60353009-60353010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369067685	chr3:60353012-60353013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539162380	chr3:60353048-60353049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557967453	chr3:60353054-60353055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372211296	chr3:60353062-60353063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80249599	chr3:60353075-60353076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569751133	chr3:60353110-60353111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147989494	chr3:60353113-60353114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186777319	chr3:60353143-60353144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6769064	chr3:60353148-60353149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527964677	chr3:60353153-60353154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539695006	chr3:60353154-60353155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6780146	chr3:60353155-60353156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558994099	chr3:60353177-60353178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569965345	chr3:60353181-60353182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536911806	chr3:60353215-60353216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115394090	chr3:60353223-60353224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191197259	chr3:60353251-60353252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75384643	chr3:60353268-60353269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555362728	chr3:60353279-60353280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573509591	chr3:60353302-60353303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534420634	chr3:60353334-60353335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563540031	chr3:60353342-60353343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552690091	chr3:60353353-60353354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530543444	chr3:60353377-60353378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567728866	chr3:60353385-60353386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577315843	chr3:60353416-60353417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369541953	chr3:60353418-60353419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11130769	chr3:60353431-60353432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567880993	chr3:60353459-60353460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183446386	chr3:60353462-60353463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546993777	chr3:60353489-60353490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571702990	chr3:60353505-60353506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62248546	chr3:60353603-60353604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557536781	chr3:60353614-60353615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12489534	chr3:60353622-60353623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs536861023	chr3:60353664-60353665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187566021	chr3:60353687-60353688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377392971	chr3:60353700-60353701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369534700	chr3:60353703-60353704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370396767	chr3:60353760-60353761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541351981	chr3:60353761-60353762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193157145	chr3:60353767-60353768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185055447	chr3:60353771-60353772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141622779	chr3:60353809-60353810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12486822	chr3:60353853-60353854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs12486873	chr3:60353855-60353856	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531099342	chr3:60353869-60353870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189901083	chr3:60353882-60353883	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Glioma	20126413	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60350600-60353600	Weak transcription	Fetal Heart	heart
2	chr3:60353600-60354000	Enhancers	Fetal Heart	heart
3	chr3:60356200-60357000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:60357800-60358200	Enhancers	Fetal Lung	lung
5	chr3:60358000-60359600	Enhancers	Dnd41	blood
6	chr3:60358200-60359000	Enhancers	Primary T cells from cord blood	blood
7	chr3:60364800-60367200	Weak transcription	Pancreas	Pancrea
8	chr3:60368600-60369000	Enhancers	Fetal Lung	lung
9	chr3:60370200-60370600	Active TSS	NH-A	brain
10	chr3:60371800-60372400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:60372000-60372400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:60374400-60375000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr3:60379800-60380000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:60381600-60382000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:60382000-60386200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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