Variant report

Variant	esv2468772
Chromosome Location	chr3:88459429-88460904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533811237	chr3:88459437-88459438	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558541354	chr3:88459457-88459458	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79657494	chr3:88459499-88459500	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537599540	chr3:88459557-88459558	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181779513	chr3:88459570-88459571	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557478850	chr3:88459594-88459595	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114617019	chr3:88459595-88459596	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543080366	chr3:88459611-88459612	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561246336	chr3:88459616-88459617	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573246927	chr3:88459617-88459618	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113637221	chr3:88459649-88459650	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186366249	chr3:88459670-88459671	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532742538	chr3:88459723-88459724	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138824993	chr3:88459726-88459727	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578105568	chr3:88459758-88459759	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562282057	chr3:88459809-88459810	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529724408	chr3:88459840-88459841	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142004303	chr3:88459898-88459899	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1379699	chr3:88459954-88459955	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533517240	chr3:88459959-88459960	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35491794	chr3:88459973-88459974	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561237816	chr3:88460017-88460018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190325751	chr3:88460020-88460021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560830454	chr3:88460027-88460028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1563669	chr3:88460030-88460031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183485403	chr3:88460032-88460033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188213321	chr3:88460072-88460073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191361250	chr3:88460079-88460080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575838138	chr3:88460119-88460120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114357839	chr3:88460177-88460178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146335397	chr3:88460179-88460180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573283614	chr3:88460224-88460225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182736629	chr3:88460283-88460284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35505048	chr3:88460288-88460289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531947296	chr3:88460320-88460321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375077572	chr3:88460335-88460336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544823370	chr3:88460350-88460351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550529934	chr3:88460351-88460352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562719268	chr3:88460414-88460415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367694919	chr3:88460440-88460441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186920168	chr3:88460455-88460456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34247351	chr3:88460493-88460494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28628096	chr3:88460494-88460495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527330482	chr3:88460497-88460498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533598677	chr3:88460501-88460502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555320029	chr3:88460504-88460505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551878702	chr3:88460521-88460522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12486842	chr3:88460525-88460526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs59764316	chr3:88460528-88460529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6770586	chr3:88460529-88460530	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88459000-88460000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:88459000-88460000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:88459200-88459600	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr3:88459200-88460200	Enhancers	Primary hematopoietic stem cells	blood
5	chr3:88459600-88460000	Active TSS	Primary T cells from cord blood	blood
6	chr3:88459800-88460200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr3:88460000-88460800	Enhancers	Primary T cells from cord blood	blood
8	chr3:88460800-88461200	Weak transcription	Primary T cells from cord blood	blood

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