Variant report

Variant	esv3386917
Chromosome Location	chr4:131496732-131499854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561167585	chr4:131496732-131496733	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs1459297	chr4:131496793-131496794	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183007026	chr4:131496804-131496805	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs17481053	chr4:131496817-131496818	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140142189	chr4:131496854-131496855	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs72491716	chr4:131496873-131496874	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs369880533	chr4:131496898-131496899	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs116824010	chr4:131496928-131496929	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535981436	chr4:131496958-131496959	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs374599804	chr4:131496988-131496989	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554644628	chr4:131496990-131496991	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs566372236	chr4:131497030-131497031	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533768365	chr4:131497033-131497034	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113137887	chr4:131497127-131497128	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192977790	chr4:131497159-131497160	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs116585817	chr4:131497183-131497184	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs182967758	chr4:131497256-131497257	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575902940	chr4:131497283-131497284	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188039409	chr4:131497288-131497289	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs192574532	chr4:131497295-131497296	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528490059	chr4:131497319-131497320	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs34568048	chr4:131497353-131497354	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1478113	chr4:131497363-131497364	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369348014	chr4:131497402-131497403	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs184803002	chr4:131497406-131497407	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs532231020	chr4:131497431-131497432	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs550450316	chr4:131497455-131497456	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs116833995	chr4:131497460-131497461	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529816428	chr4:131497505-131497506	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs17051048	chr4:131497520-131497521	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566528575	chr4:131497547-131497548	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561777919	chr4:131497572-131497573	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs533575586	chr4:131497615-131497616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs530801309	chr4:131497644-131497645	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550879959	chr4:131497650-131497651	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552104776	chr4:131497657-131497658	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs4864002	chr4:131497714-131497715	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539383509	chr4:131497726-131497727	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs113053353	chr4:131497728-131497729	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs547129670	chr4:131497745-131497746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs187608616	chr4:131497746-131497747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs570561056	chr4:131497751-131497752	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554785967	chr4:131497757-131497758	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs145871915	chr4:131497783-131497784	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs13435451	chr4:131497810-131497811	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6858615	chr4:131497823-131497824	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1531319	chr4:131497845-131497846	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544127402	chr4:131497846-131497847	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562425605	chr4:131497863-131497864	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149018537	chr4:131497918-131497919	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
small cell lung cancer	20016488	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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131492400-131497200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:131494000-131497600	Enhancers	Primary B cells from cord blood	blood
3	chr4:131494200-131497600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:131494800-131497600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:131495200-131496800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:131495400-131500400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:131496000-131496800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:131496600-131496800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr4:131496600-131497600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:131496600-131498200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:131496600-131498600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:131496800-131497400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:131496800-131497800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:131496800-131498800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:131497400-131499800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr4:131497600-131498000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:131497600-131498400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:131497600-131498800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:131497800-131498200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:131498000-131499800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:131498200-131498400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:131498200-131503600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:131498400-131499200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:131498600-131499200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:131498800-131499400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:131498800-131499600	Enhancers	HUES48 Cell Line	embryonic stem cell

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