Variant report

Variant	esv1824297
Chromosome Location	chr3:163725664-163729755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557810236	chr3:163725673-163725674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186088381	chr3:163725701-163725702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34566460	chr3:163725703-163725704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189480394	chr3:163725709-163725710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540311995	chr3:163725791-163725792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181949670	chr3:163725831-163725832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529059898	chr3:163725849-163725850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7626982	chr3:163725853-163725854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562408872	chr3:163725904-163725905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367632742	chr3:163725957-163725958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547158104	chr3:163725995-163725996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531523002	chr3:163726032-163726033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550513886	chr3:163726079-163726080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570522816	chr3:163726154-163726155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7643223	chr3:163726233-163726234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547068409	chr3:163726246-163726247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73876531	chr3:163726267-163726268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149589452	chr3:163726352-163726353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555700770	chr3:163726356-163726357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10936387	chr3:163726357-163726358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs186145720	chr3:163726369-163726370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562726129	chr3:163726445-163726446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190670193	chr3:163726528-163726529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549130409	chr3:163726532-163726533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567623441	chr3:163726535-163726536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538238391	chr3:163726599-163726600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146113628	chr3:163726633-163726634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182738319	chr3:163726656-163726657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79239263	chr3:163726708-163726709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114506352	chr3:163726745-163726746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542778971	chr3:163726780-163726781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562345210	chr3:163726820-163726821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73168240	chr3:163726840-163726841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575891151	chr3:163726852-163726853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544894257	chr3:163726902-163726903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186492788	chr3:163726906-163726907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190060903	chr3:163726908-163726909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546714492	chr3:163726926-163726927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560602418	chr3:163726946-163726947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528741225	chr3:163726974-163726975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529392026	chr3:163726976-163726977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549509624	chr3:163727000-163727001	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163724800-163727000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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