Variant report

Variant	nsv594831
Chromosome Location	chr4:91290981-91297436
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	GATA3	chr4:91292194-91292252	SH-SY5Y	brain:	n/a	n/a
2	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: 100 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557662262	chr4:91291091-91291092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576869294	chr4:91291107-91291108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372523796	chr4:91291132-91291133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201912546	chr4:91291137-91291138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543513842	chr4:91291177-91291178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545930863	chr4:91291187-91291188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376663495	chr4:91291189-91291190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9998809	chr4:91291271-91291272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144292377	chr4:91291294-91291295	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs542025729	chr4:91291376-91291377	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs11097248	chr4:91291407-91291408	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs558224387	chr4:91291461-91291462	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs530793926	chr4:91291473-91291474	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs550705691	chr4:91291477-91291478	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs542184455	chr4:91291510-91291511	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs148755070	chr4:91291512-91291513	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs12642565	chr4:91291516-91291517	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs547109422	chr4:91291553-91291554	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs187587387	chr4:91291559-91291560	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs191954215	chr4:91291621-91291622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369809734	chr4:91291623-91291624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555512178	chr4:91291654-91291655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4417930	chr4:91291666-91291667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144719324	chr4:91291669-91291670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11943289	chr4:91291714-91291715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147884375	chr4:91291723-91291724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576813742	chr4:91291725-91291726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139856546	chr4:91291745-91291746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553061587	chr4:91291756-91291757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572949811	chr4:91291793-91291794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11097249	chr4:91291794-91291795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs112323825	chr4:91294800-91294801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114184923	chr4:91294836-91294837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544174277	chr4:91294838-91294839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376954395	chr4:91294849-91294850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193083217	chr4:91294860-91294861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534364839	chr4:91294892-91294893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551327662	chr4:91294908-91294909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1973146	chr4:91294911-91294912	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs567825585	chr4:91294914-91294915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535157433	chr4:91295036-91295037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527343343	chr4:91295048-91295049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112362821	chr4:91295049-91295050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1973145	chr4:91295052-91295053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547285239	chr4:91295057-91295058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570539008	chr4:91295122-91295123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117232277	chr4:91295148-91295149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549844221	chr4:91295185-91295186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569913742	chr4:91295190-91295191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112064116	chr4:91295197-91295198	Enhancers	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:4 , 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
4	chr4:91296800-91297200	Enhancers	Left Ventricle	heart

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