Variant report

Variant	nsv967842
Chromosome Location	chr4:119493454-119499004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558387821	chr4:119493454-119493455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546763250	chr4:119493530-119493531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566898848	chr4:119493544-119493545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112991781	chr4:119493555-119493556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181568301	chr4:119493569-119493570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530242650	chr4:119493575-119493576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543934260	chr4:119493604-119493605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563715387	chr4:119493740-119493741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115832567	chr4:119493772-119493773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552907609	chr4:119493834-119493835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559969608	chr4:119493874-119493875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528694555	chr4:119493883-119493884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368330428	chr4:119493887-119493888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556102206	chr4:119493918-119493919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548797548	chr4:119493926-119493927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568538360	chr4:119493942-119493943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2035735	chr4:119493971-119493972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549454952	chr4:119493986-119493987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10028694	chr4:119494010-119494011	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538459060	chr4:119494037-119494038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371934624	chr4:119494038-119494039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558353645	chr4:119494039-119494040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146105264	chr4:119494056-119494057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558447107	chr4:119494085-119494086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186105202	chr4:119494130-119494131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190962983	chr4:119494156-119494157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554797762	chr4:119494192-119494193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34203192	chr4:119494218-119494219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574539475	chr4:119494220-119494221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62326214	chr4:119494223-119494224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543946496	chr4:119494247-119494248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373502441	chr4:119494255-119494256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563727253	chr4:119494277-119494278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369722131	chr4:119494318-119494319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577332734	chr4:119494389-119494390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375294070	chr4:119494403-119494404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182105985	chr4:119494411-119494412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528809613	chr4:119494416-119494417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186191647	chr4:119494477-119494478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191106023	chr4:119494548-119494549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562346426	chr4:119494621-119494622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530967292	chr4:119494626-119494627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549465138	chr4:119494628-119494629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183422367	chr4:119494652-119494653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559172069	chr4:119494657-119494658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369889822	chr4:119494661-119494662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371713130	chr4:119494690-119494691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188364249	chr4:119494713-119494714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565538462	chr4:119494724-119494725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191966476	chr4:119494759-119494760	Enhancers	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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119489400-119494400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:119494000-119495000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:119494200-119494800	Enhancers	Adipose Nuclei	Adipose
4	chr4:119494400-119495000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:119495000-119496400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:119495800-119496600	Enhancers	K562	blood
7	chr4:119495800-119497200	Enhancers	Fetal Heart	heart
8	chr4:119496000-119496800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:119496200-119496600	Enhancers	NHEK	skin
10	chr4:119496200-119496800	Enhancers	Osteobl	bone
11	chr4:119496400-119497000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:119496400-119497000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:119496600-119497200	Enhancers	HSMMtube	muscle
14	chr4:119496600-119498200	Weak transcription	K562	blood
15	chr4:119498200-119498400	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links