Variant report

Variant	esv3401377
Chromosome Location	chr4:129969202-129973500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 175 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180859691	chr4:129969214-129969215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186353161	chr4:129969359-129969360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576285308	chr4:129969364-129969365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537336760	chr4:129969365-129969366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555640841	chr4:129969377-129969378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569674445	chr4:129969432-129969433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573834912	chr4:129969433-129969434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542352441	chr4:129969439-129969440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560538665	chr4:129969443-129969444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191258123	chr4:129969449-129969450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545908731	chr4:129969463-129969464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564491936	chr4:129969476-129969477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370734299	chr4:129969497-129969498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368271859	chr4:129969510-129969511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550449472	chr4:129969541-129969542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201973466	chr4:129969586-129969587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12512861	chr4:129969629-129969630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12508890	chr4:129969632-129969633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79552555	chr4:129969634-129969635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201366741	chr4:129969635-129969636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12512862	chr4:129969656-129969657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553509335	chr4:129969659-129969660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533023152	chr4:129969719-129969720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28825718	chr4:129969784-129969785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569623135	chr4:129969786-129969787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536992014	chr4:129969832-129969833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555661142	chr4:129969853-129969854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181715199	chr4:129969856-129969857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144872633	chr4:129969859-129969860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs36195612	chr4:129969873-129969874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs553183457	chr4:129969874-129969875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199915458	chr4:129969896-129969897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556163963	chr4:129969970-129969971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546271231	chr4:129969973-129969974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557915505	chr4:129969985-129969986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576341187	chr4:129969989-129969990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543712874	chr4:129970025-129970026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562008323	chr4:129970036-129970037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529466005	chr4:129970051-129970052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541253274	chr4:129970088-129970089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186904483	chr4:129970125-129970126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532925005	chr4:129970132-129970133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551452308	chr4:129970136-129970137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569560425	chr4:129970142-129970143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530491088	chr4:129970174-129970175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549321702	chr4:129970187-129970188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567595601	chr4:129970207-129970208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534902357	chr4:129970208-129970209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201802575	chr4:129970266-129970267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571419119	chr4:129970272-129970273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129945600-129981800	Weak transcription	Thymus	Thymus
2	chr4:129951400-129976200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links