Variant report

Variant	esv3365791
Chromosome Location	chr3:90411486-90412800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75472464	chr3:90411492-90411493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs551802510	chr3:90411501-90411502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76710848	chr3:90411526-90411527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112056814	chr3:90411545-90411546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs113703548	chr3:90411547-90411548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs199958085	chr3:90411555-90411556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572739226	chr3:90411562-90411563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs571732581	chr3:90411563-90411564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537560182	chr3:90411568-90411569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs573593233	chr3:90411574-90411575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567875100	chr3:90411575-90411576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs536527950	chr3:90411605-90411606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs553666065	chr3:90411612-90411613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372838646	chr3:90411616-90411617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs571702179	chr3:90411620-90411621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540577126	chr3:90411644-90411645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs557340488	chr3:90411650-90411651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577283235	chr3:90411651-90411652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543524754	chr3:90411660-90411661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs563324210	chr3:90411666-90411667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529129075	chr3:90411673-90411674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542554707	chr3:90411689-90411690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs200983452	chr3:90411696-90411697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs537850212	chr3:90411699-90411700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185925853	chr3:90411715-90411716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs190265830	chr3:90411724-90411725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs571692335	chr3:90411732-90411733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530890421	chr3:90411770-90411771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs577729342	chr3:90411772-90411773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200420746	chr3:90411783-90411784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201262517	chr3:90411796-90411797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs202183814	chr3:90411805-90411806	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs551085600	chr3:90411823-90411824	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111592757	chr3:90411847-90411848	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs567747257	chr3:90411853-90411854	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs536894994	chr3:90411855-90411856	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541428928	chr3:90411859-90411860	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566782728	chr3:90411865-90411866	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs201689837	chr3:90411879-90411880	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181276855	chr3:90411887-90411888	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs545143284	chr3:90411902-90411903	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs577245948	chr3:90411915-90411916	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs376229169	chr3:90411923-90411924	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs143185994	chr3:90411940-90411941	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs185484375	chr3:90411956-90411957	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs112338480	chr3:90411992-90411993	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561621810	chr3:90412031-90412032	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112642061	chr3:90412040-90412041	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145053683	chr3:90412052-90412053	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs138630258	chr3:90412060-90412061	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90404200-90418400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr3:90411400-90417000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:90411800-90412400	Active TSS	Aorta	Aorta
4	chr3:90412400-90413600	Weak transcription	Aorta	Aorta

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