Variant report

Variant	esv19521
Chromosome Location	chr3:88664755-88665910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577134626	chr3:88664765-88664766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181050730	chr3:88664784-88664785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545813867	chr3:88664785-88664786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75028603	chr3:88664830-88664831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549930995	chr3:88664839-88664840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77809377	chr3:88664850-88664851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185360646	chr3:88664851-88664852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190849305	chr3:88664857-88664858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567048845	chr3:88664870-88664871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537684422	chr3:88664900-88664901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558511250	chr3:88664923-88664924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112339119	chr3:88664935-88664936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552976163	chr3:88664955-88664956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117602038	chr3:88665041-88665042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147511365	chr3:88665070-88665071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13090780	chr3:88665081-88665082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183470988	chr3:88665136-88665137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185963886	chr3:88665169-88665170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571774000	chr3:88665181-88665182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192022907	chr3:88665196-88665197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182880587	chr3:88665235-88665236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6776805	chr3:88665293-88665294	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563497091	chr3:88665304-88665305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531012285	chr3:88665326-88665327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188451889	chr3:88665335-88665336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112230762	chr3:88665337-88665338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74560495	chr3:88665349-88665350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548484605	chr3:88665380-88665381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560347125	chr3:88665404-88665405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527954677	chr3:88665418-88665419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62269530	chr3:88665419-88665420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148575507	chr3:88665424-88665425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113127410	chr3:88665450-88665451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6777020	chr3:88665467-88665468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs151123977	chr3:88665570-88665571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs59780992	chr3:88665629-88665630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11718555	chr3:88665666-88665667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192276665	chr3:88665752-88665753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62269531	chr3:88665764-88665765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71628821	chr3:88665810-88665811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114930133	chr3:88665820-88665821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372371212	chr3:88665857-88665858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113176386	chr3:88665871-88665872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139683751	chr3:88665872-88665873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558100758	chr3:88665894-88665895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143605180	chr3:88665896-88665897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543047382	chr3:88665898-88665899	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88664600-88667800	Enhancers	Fetal Brain Female	brain
2	chr3:88665000-88666000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:88665000-88666600	Enhancers	Fetal Brain Male	brain
4	chr3:88665400-88667600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:88665600-88666000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:88665600-88666200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:88665600-88666200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:88665600-88666400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:88665600-88666400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:88665800-88666000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:88665800-88666200	Enhancers	Brain Germinal Matrix	brain

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