Variant report

Variant	nsv818273
Chromosome Location	chr4:133685637-133731875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:133699714..133704112-chr4:133706200..133709906,4	MCF-7	breast:
2	chr4:133699714..133704112-chr4:133706200..133709906,4	MCF-7	breast:

Extended variants
information (count: 284 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150029664	chr4:133687805-133687806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6821730	chr4:133687832-133687833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535459416	chr4:133687838-133687839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555436208	chr4:133687851-133687852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572486932	chr4:133687868-133687869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60969303	chr4:133687884-133687885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560062927	chr4:133687942-133687943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576983460	chr4:133687946-133687947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182076909	chr4:133687974-133687975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562776693	chr4:133688010-133688011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531332950	chr4:133688015-133688016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548249896	chr4:133688020-133688021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115926572	chr4:133688021-133688022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111377749	chr4:133688071-133688072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554632309	chr4:133688103-133688104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186053279	chr4:133688114-133688115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544432065	chr4:133688122-133688123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372110462	chr4:133688190-133688191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540030054	chr4:133688204-133688205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574474076	chr4:133688249-133688250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550014773	chr4:133688293-133688294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570061124	chr4:133688307-133688308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs55935253	chr4:133688426-133688427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535447601	chr4:133688438-133688439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192016275	chr4:133688510-133688511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566088750	chr4:133688603-133688604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534776175	chr4:133688617-133688618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145431905	chr4:133688655-133688656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181198940	chr4:133688657-133688658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186386096	chr4:133688677-133688678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35905356	chr4:133688687-133688688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562905365	chr4:133688693-133688694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191236617	chr4:133688696-133688697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149215678	chr4:133688700-133688701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62314201	chr4:133688753-133688754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527294228	chr4:133688773-133688774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540725584	chr4:133688774-133688775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182636694	chr4:133688803-133688804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145140322	chr4:133688815-133688816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533346754	chr4:133688822-133688823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550000622	chr4:133688836-133688837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569998459	chr4:133688841-133688842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529517549	chr4:133688853-133688854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368045754	chr4:133688916-133688917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62314202	chr4:133688963-133688964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565894740	chr4:133689015-133689016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79272873	chr4:133689042-133689043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77881313	chr4:133689061-133689062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186660548	chr4:133689071-133689072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138529291	chr4:133689099-133689100	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133687800-133689400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:133688800-133689400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:133690200-133690600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:133690200-133692400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:133709600-133710000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:133714200-133715000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:133719000-133719400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:133730200-133732600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:133730600-133731000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links