Variant report

Variant	esv1998826
Chromosome Location	chr3:59792193-59792640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566179188	chr3:59792205-59792206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556366876	chr3:59792239-59792240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568332509	chr3:59792304-59792305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535903607	chr3:59792307-59792308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59917872	chr3:59792335-59792336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398062360	chr3:59792347-59792348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12494457	chr3:59792354-59792355	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs28444511	chr3:59792373-59792374	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs28378638	chr3:59792375-59792376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141582270	chr3:59792389-59792390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57125731	chr3:59792398-59792399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138596613	chr3:59792400-59792401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62238267	chr3:59792402-59792403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201099755	chr3:59792419-59792420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62238268	chr3:59792430-59792431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62238269	chr3:59792432-59792433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62238270	chr3:59792435-59792436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148300806	chr3:59792439-59792440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13434367	chr3:59792449-59792450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145861825	chr3:59792451-59792452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114310607	chr3:59792460-59792461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13434180	chr3:59792470-59792471	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140282357	chr3:59792482-59792483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529920900	chr3:59792537-59792538	Weak transcription Strong transcription	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59770400-59825200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr3:59778200-59811200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr3:59782400-59794800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:59787000-59795800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:59787200-59802000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:59788400-59797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:59788800-59795400	Weak transcription	Dnd41	blood
8	chr3:59789400-59795000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:59789400-59796800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:59789400-59797600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:59789400-59797600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:59789800-59794000	Weak transcription	Fetal Thymus	thymus
13	chr3:59789800-59797800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:59789800-59798000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:59791000-59793600	Strong transcription	Primary T cells from cord blood	blood
16	chr3:59791400-59797800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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