Variant report

Variant	esv3494853
Chromosome Location	chr3:89669461-89678573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 273 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531156419	chr3:89669480-89669481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542796915	chr3:89669504-89669505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113565096	chr3:89669536-89669537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116250031	chr3:89669549-89669550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114060589	chr3:89669550-89669551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571658086	chr3:89669575-89669576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181010294	chr3:89669576-89669577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7616907	chr3:89669582-89669583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569161795	chr3:89669592-89669593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77656561	chr3:89669596-89669597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184985882	chr3:89669606-89669607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75776620	chr3:89669623-89669624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566646743	chr3:89669681-89669682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533782186	chr3:89669695-89669696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558581414	chr3:89669696-89669697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576869493	chr3:89669703-89669704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544193468	chr3:89669741-89669742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555469659	chr3:89669771-89669772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573800347	chr3:89669857-89669858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555919098	chr3:89669864-89669865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79759625	chr3:89669882-89669883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143553670	chr3:89669914-89669915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190510633	chr3:89669939-89669940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373405447	chr3:89669955-89669956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528620069	chr3:89669992-89669993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540470057	chr3:89669994-89669995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77243001	chr3:89670006-89670007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11915990	chr3:89670015-89670016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550940012	chr3:89670029-89670030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182240564	chr3:89670036-89670037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530142788	chr3:89670040-89670041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577857093	chr3:89670070-89670071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369173211	chr3:89670071-89670072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112326572	chr3:89670086-89670087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566783136	chr3:89670130-89670131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533942146	chr3:89670152-89670153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558518602	chr3:89670167-89670168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372576078	chr3:89670168-89670169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191655123	chr3:89670232-89670233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570519016	chr3:89670252-89670253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537570835	chr3:89670274-89670275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34229301	chr3:89670339-89670340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182717690	chr3:89670352-89670353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6797049	chr3:89670356-89670357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543630871	chr3:89670449-89670450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563670647	chr3:89670504-89670505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147171908	chr3:89670528-89670529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551008623	chr3:89670554-89670555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185869008	chr3:89670651-89670652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190237166	chr3:89670669-89670670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89665200-89674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:89673600-89673800	Enhancers	HepG2	liver
3	chr3:89674000-89675000	Weak transcription	HepG2	liver
4	chr3:89674600-89675200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:89675000-89675400	Enhancers	HepG2	liver
6	chr3:89675200-89675600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:89675600-89675800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:89677600-89679000	Enhancers	Fetal Heart	heart
9	chr3:89678200-89678800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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