Variant report

Variant	nsv876839
Chromosome Location	chr3:60024084-60039488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 823 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:823 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7433134	chr3:60024084-60024085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4327338	chr3:60024100-60024101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543499061	chr3:60024104-60024105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536316173	chr3:60024105-60024106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201137919	chr3:60024162-60024163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530284695	chr3:60024183-60024184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35543838	chr3:60024195-60024196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs212060	chr3:60024229-60024230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573186661	chr3:60024250-60024251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540621622	chr3:60024270-60024271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559029023	chr3:60024296-60024297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111634856	chr3:60024324-60024325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369686093	chr3:60024342-60024343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544822227	chr3:60024348-60024349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187438079	chr3:60024369-60024370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192099794	chr3:60024415-60024416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200681570	chr3:60024418-60024419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs5849316	chr3:60024427-60024428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397989814	chr3:60024430-60024431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561014710	chr3:60024438-60024439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528121024	chr3:60024454-60024455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546565573	chr3:60024504-60024505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116797739	chr3:60024506-60024507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76737733	chr3:60024512-60024513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550380835	chr3:60024517-60024518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148536353	chr3:60024518-60024519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561920229	chr3:60024544-60024545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184038004	chr3:60024574-60024575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373080654	chr3:60024581-60024582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77641980	chr3:60024584-60024585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs68193925	chr3:60024616-60024617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533951325	chr3:60024653-60024654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556203494	chr3:60024694-60024695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188493637	chr3:60024700-60024701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577635741	chr3:60024761-60024762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538506920	chr3:60024769-60024770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556879541	chr3:60024775-60024776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192101679	chr3:60024797-60024798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568248027	chr3:60024860-60024861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542406361	chr3:60024875-60024876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs212059	chr3:60024883-60024884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs79968297	chr3:60024900-60024901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553981674	chr3:60024920-60024921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182725792	chr3:60024975-60024976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142856775	chr3:60024982-60024983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564509472	chr3:60025012-60025013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532288042	chr3:60025019-60025020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550491596	chr3:60025035-60025036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17257241	chr3:60025038-60025039	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9874226	chr3:60025039-60025040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Cancer	20164919	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60020200-60030000	Weak transcription	Primary T cells from cord blood	blood
2	chr3:60021000-60024800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr3:60021000-60031600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:60021800-60026400	Weak transcription	Fetal Thymus	thymus
5	chr3:60022200-60030000	Weak transcription	Thymus	Thymus
6	chr3:60022600-60026200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr3:60022800-60026200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:60023000-60028000	Weak transcription	Dnd41	blood
9	chr3:60024800-60025200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr3:60025200-60026600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:60026200-60027400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr3:60026200-60027600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:60026400-60027000	Enhancers	Fetal Thymus	thymus
14	chr3:60026600-60033600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr3:60026800-60027600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr3:60027000-60030200	Weak transcription	Fetal Thymus	thymus
17	chr3:60027400-60030600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr3:60027600-60030000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr3:60027600-60030800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr3:60028000-60030400	Strong transcription	Dnd41	blood
21	chr3:60028600-60030400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr3:60029200-60031000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:60030000-60030400	Enhancers	Primary T cells from cord blood	blood
24	chr3:60030000-60030600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:60030000-60031000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr3:60030200-60031200	Strong transcription	Fetal Thymus	thymus
27	chr3:60030400-60031600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:60030400-60031800	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr3:60030400-60032200	ZNF genes & repeats	Dnd41	blood
30	chr3:60030600-60032000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr3:60030600-60034000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:60030800-60031400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr3:60031000-60031400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:60031000-60031600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:60031200-60031600	ZNF genes & repeats	Fetal Thymus	thymus
36	chr3:60031400-60031600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
37	chr3:60031400-60031600	Enhancers	Brain Substantia Nigra	brain
38	chr3:60031400-60031800	Enhancers	Brain Germinal Matrix	brain
39	chr3:60031400-60031800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr3:60031400-60033800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:60031600-60031800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr3:60031600-60031800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr3:60031600-60031800	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr3:60031600-60032000	Enhancers	Liver	Liver
45	chr3:60031600-60032000	Weak transcription	Thymus	Thymus
46	chr3:60031600-60032200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:60031600-60032200	Enhancers	Fetal Muscle Leg	muscle
48	chr3:60031600-60032400	Active TSS	Brain Angular Gyrus	brain
49	chr3:60031600-60032400	Active TSS	Brain Cingulate Gyrus	brain
50	chr3:60031600-60032400	Active TSS	Brain Hippocampus Middle	brain

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