Variant report

Variant	esv3419324
Chromosome Location	chr3:59971462-59973660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371324345	chr3:59971470-59971471	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs372190386	chr3:59971488-59971489	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553790337	chr3:59971516-59971517	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs180899511	chr3:59971527-59971528	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs572068849	chr3:59971543-59971544	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs148531345	chr3:59971558-59971559	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375602707	chr3:59971575-59971576	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs530165691	chr3:59971594-59971595	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs368443751	chr3:59971603-59971604	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541858672	chr3:59971645-59971646	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560579984	chr3:59971692-59971693	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527675535	chr3:59971710-59971711	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs552485015	chr3:59971720-59971721	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs528939767	chr3:59971722-59971723	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570786945	chr3:59971752-59971753	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs531811741	chr3:59971768-59971769	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs549929376	chr3:59971769-59971770	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs3821481	chr3:59971777-59971778	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185781325	chr3:59971782-59971783	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189846448	chr3:59971785-59971786	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs183510918	chr3:59971794-59971795	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559230989	chr3:59971818-59971819	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533541494	chr3:59971833-59971834	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs558920709	chr3:59971840-59971841	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs144249812	chr3:59971844-59971845	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs74800068	chr3:59971849-59971850	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs73106565	chr3:59971855-59971856	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs3821482	chr3:59971856-59971857	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2630192	chr3:59971868-59971869	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560366814	chr3:59971890-59971891	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs527712583	chr3:59971895-59971896	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186396218	chr3:59971897-59971898	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs562318016	chr3:59971950-59971951	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs566799376	chr3:59971973-59971974	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs146547808	chr3:59971976-59971977	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs545705982	chr3:59972009-59972010	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs531844899	chr3:59972026-59972027	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549966182	chr3:59972034-59972035	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs377315621	chr3:59972038-59972039	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs574737233	chr3:59972054-59972055	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs568683831	chr3:59972070-59972071	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs529458749	chr3:59972071-59972072	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs548302527	chr3:59972086-59972087	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs190705041	chr3:59972103-59972104	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs367719011	chr3:59972131-59972132	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs533794430	chr3:59972146-59972147	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs558545867	chr3:59972147-59972148	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs73106568	chr3:59972152-59972153	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538187180	chr3:59972162-59972163	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556172342	chr3:59972185-59972186	Weak transcription Enhancers Flanking Active TSS Active TSS	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59965600-59974600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr3:59967400-59974400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:59967400-59993000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:59968000-59986600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:59968400-59971800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:59968400-59982600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:59969000-59971600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:59969000-59971600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:59969400-59971600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr3:59970000-59971600	ZNF genes & repeats	Fetal Thymus	thymus
11	chr3:59970000-59971800	Genic enhancers	Primary T cells from cord blood	blood
12	chr3:59970000-59972000	ZNF genes & repeats	Dnd41	blood
13	chr3:59970600-59971600	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:59970600-59972000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:59971000-59971800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:59971000-59972000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr3:59971000-59972200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr3:59971200-59971600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:59971200-59971600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:59971200-59971600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:59971400-59971600	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr3:59971400-59972000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr3:59971400-59972200	Enhancers	Primary B cells from cord blood	blood
24	chr3:59971400-59972200	Enhancers	Primary B cells from peripheral blood	blood
25	chr3:59971400-59972200	Enhancers	Thymus	Thymus
26	chr3:59971600-59971800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr3:59971600-59972000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr3:59971600-59972000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr3:59971600-59972000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:59971600-59972000	Enhancers	GM12878-XiMat	blood
31	chr3:59971600-59972000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr3:59971600-59972200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr3:59971600-59972200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:59971600-59972200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:59971600-59972200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:59971600-59974200	Weak transcription	Fetal Thymus	thymus
37	chr3:59971800-59972200	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr3:59971800-59972200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr3:59971800-59972200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr3:59971800-59972200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr3:59972000-59972200	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr3:59972000-59972400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr3:59972000-59973000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr3:59972000-59973200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr3:59972000-59974400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:59972000-59977000	Weak transcription	Dnd41	blood
47	chr3:59972200-59972400	Enhancers	Primary T cells from cord blood	blood
48	chr3:59972200-59972400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr3:59972200-59972400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr3:59972200-59972400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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