Variant report

Variant	esv19330
Chromosome Location	chr3:135371923-135373460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551551154	chr3:135372002-135372003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181696646	chr3:135372104-135372105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186356899	chr3:135372111-135372112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112661814	chr3:135372141-135372142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574121763	chr3:135372154-135372155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535743196	chr3:135372158-135372159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373853839	chr3:135372164-135372165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147627742	chr3:135372213-135372214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575328531	chr3:135372218-135372219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567624919	chr3:135372227-135372228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544407787	chr3:135372245-135372246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35478146	chr3:135372267-135372268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563981155	chr3:135372302-135372303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577680231	chr3:135372306-135372307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4458391	chr3:135372327-135372328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191257449	chr3:135372329-135372330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182992807	chr3:135372339-135372340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142170023	chr3:135372370-135372371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143109779	chr3:135372376-135372377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531785156	chr3:135372381-135372382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185189099	chr3:135372382-135372383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71620536	chr3:135372393-135372394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4568167	chr3:135372394-135372395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1374781	chr3:135372428-135372429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567641644	chr3:135372438-135372439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536677975	chr3:135372452-135372453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555663481	chr3:135372477-135372478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1374782	chr3:135372502-135372503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537605868	chr3:135372503-135372504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6763719	chr3:135372522-135372523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74409300	chr3:135372580-135372581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189655923	chr3:135372581-135372582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140371976	chr3:135372585-135372586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573267761	chr3:135372586-135372587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549825787	chr3:135372588-135372589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542238174	chr3:135372592-135372593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562993663	chr3:135372593-135372594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532041194	chr3:135372618-135372619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545416543	chr3:135372638-135372639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73217757	chr3:135372651-135372652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527905546	chr3:135372683-135372684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137886857	chr3:135372696-135372697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567773660	chr3:135372740-135372741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183332759	chr3:135372788-135372789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538230762	chr3:135372789-135372790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142496238	chr3:135372825-135372826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200010305	chr3:135372827-135372828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575845969	chr3:135372837-135372838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187648398	chr3:135372863-135372864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545646822	chr3:135372876-135372877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Bipolar disorder	18458673	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135372000-135373600	Weak transcription	Pancreas	Pancrea

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