Variant report

Variant	nsv594826
Chromosome Location	chr4:91289294-91296454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:91289737-91289795	GM10248	blood:	n/a	n/a
2	GATA3	chr4:91290943-91290958	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr4:91292194-91292252	SH-SY5Y	brain:	n/a	n/a
4	STAT3	chr4:91292610-91292757	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-4	chr4:91291274-91291578	NONHSAT097410

Variant related genes	Relation type
RN7SKP248	TF binding region

Extended variants
information (count: 121 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6842950	chr4:91289294-91289295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546365037	chr4:91289335-91289336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114724873	chr4:91289410-91289411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573457080	chr4:91289435-91289436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386677176	chr4:91289469-91289470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6848630	chr4:91289474-91289475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74996002	chr4:91289502-91289503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6848807	chr4:91289554-91289555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6848509	chr4:91289625-91289626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543030955	chr4:91289645-91289646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371488121	chr4:91289670-91289671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552326270	chr4:91289714-91289715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6849224	chr4:91289716-91289717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115988423	chr4:91289742-91289743	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs141154788	chr4:91289744-91289745	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs145286542	chr4:91289755-91289756	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs568515467	chr4:91289779-91289780	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs115288721	chr4:91289795-91289796	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs572979301	chr4:91289807-91289808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs137881007	chr4:91289822-91289823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577248733	chr4:91289827-91289828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142689519	chr4:91289839-91289840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553494789	chr4:91289898-91289899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573465409	chr4:91289918-91289919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28433487	chr4:91289919-91289920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183771549	chr4:91289930-91289931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71596526	chr4:91289936-91289937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367848676	chr4:91289966-91289967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564928416	chr4:91290053-91290054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188836787	chr4:91290061-91290062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563266240	chr4:91290071-91290072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532204471	chr4:91290079-91290080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9884875	chr4:91290106-91290107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559452821	chr4:91290128-91290129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146025176	chr4:91290131-91290132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548544728	chr4:91290255-91290256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568348203	chr4:91290256-91290257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181122461	chr4:91290277-91290278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202216834	chr4:91290298-91290299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184550932	chr4:91290303-91290304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570874507	chr4:91290314-91290315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190103184	chr4:91290317-91290318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9307083	chr4:91290341-91290342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112401114	chr4:91290344-91290345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371756453	chr4:91290357-91290358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530204593	chr4:91290358-91290359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199703368	chr4:91290368-91290369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9307084	chr4:91290376-91290377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111462413	chr4:91290378-91290379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112054071	chr4:91290387-91290388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
lymphocytic leukemia	21291569	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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91289200-91291800	Weak transcription	Fetal Intestine Small	intestine
2	chr4:91294800-91295200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:91296400-91325000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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