Variant report

Variant	esv3339529
Chromosome Location	chr3:135365562-135369960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555840789	chr3:135365577-135365578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553756292	chr3:135365582-135365583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544444312	chr3:135365729-135365730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564138006	chr3:135365760-135365761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532886295	chr3:135365762-135365763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187626321	chr3:135365770-135365771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566333117	chr3:135365776-135365777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192099048	chr3:135365787-135365788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112272466	chr3:135365797-135365798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146975337	chr3:135365801-135365802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569230398	chr3:135365804-135365805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538015033	chr3:135365830-135365831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184483768	chr3:135365885-135365886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571668930	chr3:135365893-135365894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534032183	chr3:135365894-135365895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554284501	chr3:135365898-135365899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188931926	chr3:135365910-135365911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6439586	chr3:135365957-135365958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs555673792	chr3:135365977-135365978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562590275	chr3:135366035-135366036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575628699	chr3:135366054-135366055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13085996	chr3:135366062-135366063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544383216	chr3:135366087-135366088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138217926	chr3:135366097-135366098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534324563	chr3:135366160-135366161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112787184	chr3:135366174-135366175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117674539	chr3:135366217-135366218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528853871	chr3:135366258-135366259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147149486	chr3:135366268-135366269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562800737	chr3:135366305-135366306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115211173	chr3:135366342-135366343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2121715	chr3:135366402-135366403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148191453	chr3:135366425-135366426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141228826	chr3:135366504-135366505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547554128	chr3:135366505-135366506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375576830	chr3:135366515-135366516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192765833	chr3:135366574-135366575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150745731	chr3:135366624-135366625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184837996	chr3:135366626-135366627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564378712	chr3:135366640-135366641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554595606	chr3:135366691-135366692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576550114	chr3:135366701-135366702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1839011	chr3:135366706-135366707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558065515	chr3:135366716-135366717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34315840	chr3:135366735-135366736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540444063	chr3:135366822-135366823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559956392	chr3:135366826-135366827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561373936	chr3:135366856-135366857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367795143	chr3:135366870-135366871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2121716	chr3:135366875-135366876	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135348000-135367400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:135367400-135368200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:135367800-135368200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:135368800-135370000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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