Variant report

Variant	esv1811614
Chromosome Location	chr3:82867767-82888913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150941429	chr3:82876020-82876021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540503934	chr3:82876061-82876062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573356011	chr3:82876068-82876069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553514447	chr3:82876097-82876098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573296742	chr3:82876125-82876126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542351052	chr3:82876127-82876128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139460515	chr3:82876183-82876184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144593062	chr3:82885408-82885409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567853843	chr3:82885483-82885484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566679311	chr3:82885497-82885498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556590367	chr3:82885513-82885514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374856339	chr3:82885520-82885521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532120224	chr3:82885543-82885544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76398011	chr3:82885545-82885546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551929863	chr3:82885551-82885552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558491390	chr3:82885552-82885553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149146110	chr3:82885587-82885588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541105944	chr3:82885607-82885608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62259542	chr3:82885632-82885633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574539084	chr3:82885633-82885634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189412320	chr3:82885650-82885651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563456105	chr3:82885766-82885767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532401996	chr3:82885782-82885783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552236194	chr3:82885805-82885806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78743976	chr3:82885870-82885871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528239280	chr3:82885880-82885881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182016046	chr3:82885916-82885917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568104884	chr3:82885931-82885932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557550377	chr3:82885937-82885938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185907265	chr3:82885964-82885965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191059290	chr3:82885983-82885984	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	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
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82876000-82876200	Enhancers	Aorta	Aorta
2	chr3:82885400-82885800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:82885400-82886000	Enhancers	HUES48 Cell Line	embryonic stem cell

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