Variant report

Variant	nsv1002104
Chromosome Location	chr3:59875996-59907597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:234742959..234745944-chr3:59898788..59900288,2	K562	blood:

Variant related genes	Relation type
ENSG00000168264	chromatin interactions

Extended variants
information (count: 1554 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1554 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11924342	chr3:59875996-59875997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140229535	chr3:59876027-59876028	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574660741	chr3:59876069-59876070	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535691677	chr3:59876102-59876103	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11924368	chr3:59876137-59876138	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570168678	chr3:59876163-59876164	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572457628	chr3:59876188-59876189	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367871488	chr3:59876241-59876242	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9820066	chr3:59876261-59876262	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564473642	chr3:59876300-59876301	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145681587	chr3:59876303-59876304	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372156799	chr3:59876327-59876328	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75196543	chr3:59876351-59876352	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374842393	chr3:59876374-59876375	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555118489	chr3:59876375-59876376	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147738653	chr3:59876412-59876413	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12636019	chr3:59876418-59876419	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs55748694	chr3:59876454-59876455	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7614251	chr3:59876507-59876508	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188734375	chr3:59876569-59876570	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371505439	chr3:59876580-59876581	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570411782	chr3:59876581-59876582	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531358742	chr3:59876590-59876591	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550093604	chr3:59876597-59876598	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568403000	chr3:59876613-59876614	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535755498	chr3:59876616-59876617	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540887296	chr3:59876620-59876621	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553983193	chr3:59876627-59876628	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17061366	chr3:59876658-59876659	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535395162	chr3:59876665-59876666	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539910060	chr3:59876666-59876667	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577564344	chr3:59876667-59876668	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369977423	chr3:59876701-59876702	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545021772	chr3:59876747-59876748	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151286067	chr3:59876765-59876766	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543452626	chr3:59876770-59876771	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192014147	chr3:59876779-59876780	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79709739	chr3:59876802-59876803	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563151754	chr3:59876818-59876819	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17061368	chr3:59876862-59876863	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372985665	chr3:59876880-59876881	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375205594	chr3:59876913-59876914	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559863124	chr3:59876928-59876929	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9862817	chr3:59876942-59876943	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs17061373	chr3:59876943-59876944	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs61450628	chr3:59876964-59876965	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183336423	chr3:59876984-59876985	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531320998	chr3:59876993-59876994	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112982524	chr3:59877006-59877007	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542745068	chr3:59877013-59877014	Weak transcription Genic enhancers 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:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59868800-59882600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:59871400-59879200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr3:59872600-59880600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:59872600-59880600	Weak transcription	Fetal Thymus	thymus
5	chr3:59872600-59884200	Weak transcription	Dnd41	blood
6	chr3:59873200-59904200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:59873800-59876000	Weak transcription	Primary T cells from cord blood	blood
8	chr3:59874000-59876000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr3:59875200-59880400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:59875400-59876200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:59876000-59876600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:59876000-59877800	Genic enhancers	Primary T cells from cord blood	blood
13	chr3:59876200-59877200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:59876600-59877000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:59877000-59877200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr3:59877200-59880200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:59877200-59880400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:59877800-59880600	Weak transcription	Primary T cells from cord blood	blood
19	chr3:59879200-59880200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:59880200-59883200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr3:59880200-59883400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr3:59880400-59880600	Enhancers	Fetal Brain Male	brain
23	chr3:59880400-59882200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr3:59880400-59883400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr3:59880600-59881800	Weak transcription	Fetal Brain Male	brain
26	chr3:59880600-59882200	Enhancers	Fetal Thymus	thymus
27	chr3:59880600-59882400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr3:59880600-59883200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr3:59880600-59883400	Enhancers	Primary T cells from cord blood	blood
30	chr3:59881400-59882800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr3:59881600-59882000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:59881600-59882000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:59881600-59882000	Enhancers	Pancreas	Pancrea
34	chr3:59881800-59882000	Enhancers	Fetal Brain Male	brain
35	chr3:59882000-59882600	Weak transcription	Fetal Brain Male	brain
36	chr3:59882000-59886600	Weak transcription	Pancreas	Pancrea
37	chr3:59882200-59882600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr3:59882200-59882600	Weak transcription	Fetal Thymus	thymus
39	chr3:59882400-59883200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr3:59882600-59882800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:59882600-59882800	Enhancers	Fetal Brain Male	brain
42	chr3:59882600-59882800	Enhancers	Fetal Thymus	thymus
43	chr3:59882600-59882800	Enhancers	Left Ventricle	heart
44	chr3:59882600-59883000	Enhancers	Fetal Heart	heart
45	chr3:59882600-59883600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr3:59882800-59890200	Weak transcription	Fetal Thymus	thymus
47	chr3:59883000-59884200	Weak transcription	Fetal Heart	heart
48	chr3:59883200-59893000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr3:59883400-59884400	Weak transcription	Primary T cells from cord blood	blood
50	chr3:59883400-59885600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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