Variant report

Variant	nsv536584
Chromosome Location	chr3:68066423-68188180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221790481..221791096-chr3:68162539..68163265,2	MCF-7	breast:
2	chr3:68058440..68060357-chr3:68076381..68078551,2	K562	blood:
3	chr3:67869894..67870930-chr3:68066062..68066983,4	MCF-7	breast:
4	chr3:67951890..67952870-chr3:68066397..68066948,2	MCF-7	breast:
5	chr3:67160040..67160708-chr3:68065971..68066562,2	MCF-7	breast:
6	chr3:67840426..67841246-chr3:68065943..68066794,2	MCF-7	breast:

Extended variants
information (count: 3282 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3282 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566343546	chr3:68066667-68066668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550283640	chr3:68066697-68066698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538404412	chr3:68066713-68066714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376781871	chr3:68066729-68066730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191472927	chr3:68066742-68066743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6792729	chr3:68066756-68066757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76398914	chr3:68066768-68066769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145340256	chr3:68066856-68066857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536763063	chr3:68066936-68066937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553471285	chr3:68067006-68067007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573488477	chr3:68067037-68067038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117001818	chr3:68067050-68067051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375627435	chr3:68067082-68067083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374405643	chr3:68067118-68067119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397800346	chr3:68067119-68067120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200976155	chr3:68067123-68067124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375204378	chr3:68067170-68067171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181753352	chr3:68067235-68067236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551734939	chr3:68067257-68067258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186235543	chr3:68067273-68067274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565052233	chr3:68067281-68067282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190219552	chr3:68067285-68067286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs137947042	chr3:68067311-68067312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559768241	chr3:68067312-68067313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532074924	chr3:68067316-68067317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73837229	chr3:68067328-68067329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6793147	chr3:68067357-68067358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370037253	chr3:68067374-68067375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550759914	chr3:68067389-68067390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555203291	chr3:68067838-68067839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76149133	chr3:68067867-68067868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73837230	chr3:68067904-68067905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559708037	chr3:68067916-68067917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532107797	chr3:68067925-68067926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538922894	chr3:68067930-68067931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142851111	chr3:68067956-68067957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558868281	chr3:68067966-68067967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531498089	chr3:68068010-68068011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186627116	chr3:68068017-68068018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544508370	chr3:68068052-68068053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575424996	chr3:68068060-68068061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568316858	chr3:68068074-68068075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527583501	chr3:68068158-68068159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114784534	chr3:68068173-68068174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191080735	chr3:68068201-68068202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1447755	chr3:68068202-68068203	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183722055	chr3:68068215-68068216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569368364	chr3:68068292-68068293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs80277154	chr3:68068329-68068330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111739887	chr3:68068347-68068348	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68066600-68067400	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr3:68067800-68069600	Enhancers	Fetal Stomach	stomach
3	chr3:68070800-68071800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr3:68081800-68082000	Enhancers	Aorta	Aorta
5	chr3:68082000-68086400	Weak transcription	Aorta	Aorta
6	chr3:68082800-68083600	Enhancers	Liver	Liver
7	chr3:68083400-68083800	Enhancers	Fetal Intestine Large	intestine
8	chr3:68083600-68084000	Enhancers	Fetal Intestine Small	intestine
9	chr3:68086400-68087000	Enhancers	Aorta	Aorta
10	chr3:68094200-68094800	Enhancers	Fetal Intestine Small	intestine
11	chr3:68094800-68098800	Weak transcription	Fetal Intestine Small	intestine
12	chr3:68097800-68098000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr3:68098000-68105000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:68098600-68099800	Enhancers	Duodenum Mucosa	Duodenum
15	chr3:68098800-68099600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr3:68098800-68099800	Enhancers	Fetal Intestine Large	intestine
17	chr3:68098800-68101800	Enhancers	Fetal Intestine Small	intestine
18	chr3:68099000-68099600	Enhancers	Aorta	Aorta
19	chr3:68099200-68099600	Enhancers	Small Intestine	intestine
20	chr3:68099400-68100200	Enhancers	Fetal Muscle Leg	muscle
21	chr3:68099600-68105800	Weak transcription	Small Intestine	intestine
22	chr3:68099800-68103600	Weak transcription	Fetal Intestine Large	intestine
23	chr3:68099800-68105000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:68101800-68103800	Weak transcription	Fetal Intestine Small	intestine
25	chr3:68103600-68105400	Enhancers	Fetal Intestine Large	intestine
26	chr3:68103800-68106200	Enhancers	Fetal Intestine Small	intestine
27	chr3:68104200-68106600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr3:68104800-68106200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr3:68105000-68106200	Enhancers	Primary T cells from cord blood	blood
30	chr3:68105000-68106200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr3:68105000-68106200	Enhancers	Duodenum Mucosa	Duodenum
32	chr3:68105000-68106600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr3:68105000-68106600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr3:68105000-68106600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:68105000-68109000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr3:68105200-68107000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr3:68105400-68106000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:68105400-68106800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:68105400-68107000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:68105400-68108400	Weak transcription	Fetal Intestine Large	intestine
41	chr3:68105600-68106200	Enhancers	Aorta	Aorta
42	chr3:68105800-68106000	Enhancers	Small Intestine	intestine
43	chr3:68105800-68106800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:68106000-68106800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr3:68106000-68108200	Weak transcription	Small Intestine	intestine
46	chr3:68106200-68106600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:68106200-68106800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr3:68106200-68106800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:68106200-68108000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr3:68106200-68108200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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