Variant report

Variant	nsv876846
Chromosome Location	chr3:60347122-60382828
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	chr3:60353725..60356090-chr3:60357671..60359254,2	K562	blood:
3	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
4	chr3:60382449..60384034-chr3:60387364..60390049,2	K562	blood:
5	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:
6	chr3:60364373..60366879-chr3:60368723..60370826,2	K562	blood:
7	chr3:60358149..60359978-chr3:60360609..60362627,2	K562	blood:

Extended variants
information (count: 684 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559394548	chr3:60349406-60349407	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559275856	chr3:60349409-60349410	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140537551	chr3:60349415-60349416	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73090008	chr3:60349431-60349432	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374931184	chr3:60349441-60349442	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530501315	chr3:60349447-60349448	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564037642	chr3:60349450-60349451	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs970045	chr3:60349462-60349463	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113191822	chr3:60349481-60349482	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376767207	chr3:60349487-60349488	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147690392	chr3:60349488-60349489	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528725252	chr3:60349489-60349490	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386661479	chr3:60349494-60349495	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112800084	chr3:60349495-60349496	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79262939	chr3:60349496-60349497	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562952467	chr3:60349497-60349498	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6763743	chr3:60349500-60349501	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72875057	chr3:60349524-60349525	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368272926	chr3:60349553-60349554	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142375543	chr3:60349566-60349567	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370492327	chr3:60349573-60349574	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530361748	chr3:60349590-60349591	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115371408	chr3:60349596-60349597	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146361312	chr3:60349605-60349606	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573735621	chr3:60349610-60349611	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534529354	chr3:60349627-60349628	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553200377	chr3:60349628-60349629	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577882671	chr3:60349677-60349678	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544931086	chr3:60349683-60349684	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562929355	chr3:60349686-60349687	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540902858	chr3:60349695-60349696	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574936109	chr3:60349701-60349702	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542311774	chr3:60349715-60349716	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560823420	chr3:60349716-60349717	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35447167	chr3:60349742-60349743	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372819608	chr3:60349750-60349751	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75051952	chr3:60349805-60349806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189381823	chr3:60349809-60349810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62248545	chr3:60349819-60349820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180985564	chr3:60349828-60349829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557954005	chr3:60349830-60349831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569262748	chr3:60349838-60349839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527626503	chr3:60349846-60349847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527962405	chr3:60349853-60349854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566870521	chr3:60349861-60349862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566680927	chr3:60349896-60349897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534790669	chr3:60349902-60349903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552872095	chr3:60349923-60349924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577451395	chr3:60349955-60349956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538536707	chr3:60349967-60349968	Enhancers Weak transcription	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60349400-60349600	Enhancers	NH-A	brain
2	chr3:60349400-60349800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:60349400-60349800	Enhancers	Fetal Brain Male	brain
4	chr3:60349400-60350600	Enhancers	NHLF	lung
5	chr3:60349600-60349800	Enhancers	Lung	lung
6	chr3:60349600-60350400	Weak transcription	NH-A	brain
7	chr3:60349600-60351800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:60349800-60351800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:60350400-60350600	Enhancers	Fetal Heart	heart
10	chr3:60350400-60352400	Enhancers	NH-A	brain
11	chr3:60350600-60353600	Weak transcription	Fetal Heart	heart
12	chr3:60351000-60351400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:60351000-60351600	Enhancers	HUVEC	blood vessel
14	chr3:60351000-60351600	Enhancers	NHEK	skin
15	chr3:60351000-60352000	Enhancers	Osteobl	bone
16	chr3:60351200-60351800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:60353600-60354000	Enhancers	Fetal Heart	heart
18	chr3:60356200-60357000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr3:60357800-60358200	Enhancers	Fetal Lung	lung
20	chr3:60358000-60359600	Enhancers	Dnd41	blood
21	chr3:60358200-60359000	Enhancers	Primary T cells from cord blood	blood
22	chr3:60364800-60367200	Weak transcription	Pancreas	Pancrea
23	chr3:60368600-60369000	Enhancers	Fetal Lung	lung
24	chr3:60370200-60370600	Active TSS	NH-A	brain
25	chr3:60371800-60372400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr3:60372000-60372400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr3:60374400-60375000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr3:60379800-60380000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:60381600-60382000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:60382000-60386200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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