Variant report

Variant	nsv537188
Chromosome Location	chr4:95719585-95766067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95743025..95745346-chr4:95749976..95751572,2	MCF-7	breast:
2	chr4:95743046..95745233-chr4:95750438..95752858,2	K562	blood:
3	chr4:95763923..95766773-chr4:95768143..95770338,2	K562	blood:
4	chr4:95764172..95765920-chr4:95771884..95773911,2	K562	blood:
5	chr4:95743046..95745233-chr4:95750438..95752858,2	K562	blood:
6	chr4:95743025..95745346-chr4:95749976..95751572,2	MCF-7	breast:
7	chr4:95763140..95765026-chr4:95770756..95772869,2	MCF-7	breast:

Extended variants
information (count: 1789 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1789 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569965475	chr4:95719592-95719593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188331452	chr4:95719638-95719639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528634680	chr4:95719640-95719641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536613225	chr4:95719677-95719678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368796839	chr4:95719678-95719679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547897620	chr4:95719683-95719684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374072632	chr4:95719712-95719713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568132754	chr4:95719717-95719718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530470886	chr4:95719725-95719726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550541925	chr4:95719736-95719737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148113727	chr4:95719742-95719743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558148599	chr4:95719764-95719765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576479655	chr4:95719812-95719813	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs550701415	chr4:95719890-95719891	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553273621	chr4:95719903-95719904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368013218	chr4:95719928-95719929	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs13138560	chr4:95719989-95719990	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs180691367	chr4:95719992-95719993	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554791928	chr4:95719994-95719995	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs373573647	chr4:95720012-95720013	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs186510856	chr4:95720130-95720131	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs78786197	chr4:95720173-95720174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs116555502	chr4:95720183-95720184	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546110958	chr4:95720258-95720259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559586244	chr4:95720302-95720303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7673420	chr4:95720309-95720310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536544116	chr4:95720316-95720317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368737246	chr4:95720360-95720361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200013918	chr4:95720386-95720387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541998156	chr4:95720408-95720409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35965331	chr4:95720421-95720422	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376534738	chr4:95720457-95720458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531252443	chr4:95720476-95720477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550356971	chr4:95720480-95720481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369697948	chr4:95720503-95720504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372320629	chr4:95720515-95720516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192156751	chr4:95720516-95720517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546948335	chr4:95720540-95720541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566748487	chr4:95720546-95720547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376958414	chr4:95720547-95720548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549153910	chr4:95720571-95720572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141712881	chr4:95720577-95720578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182037844	chr4:95720595-95720596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557149401	chr4:95720603-95720604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369173804	chr4:95720604-95720605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539433973	chr4:95720647-95720648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553280517	chr4:95720663-95720664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573190338	chr4:95720728-95720729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557404254	chr4:95720746-95720747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187092267	chr4:95720770-95720771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95710400-95732400	Weak transcription	Aorta	Aorta
2	chr4:95713800-95725800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:95719200-95719600	Weak transcription	A549	lung
4	chr4:95719200-95720000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:95719400-95719600	Enhancers	Ovary	ovary
6	chr4:95719400-95719800	Enhancers	Fetal Heart	heart
7	chr4:95719400-95720400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:95719400-95720400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:95719600-95719800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:95719600-95720000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:95719600-95720000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:95719600-95720200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:95719600-95720400	Enhancers	A549	lung
14	chr4:95719600-95720600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:95719600-95720600	Enhancers	NH-A	brain
16	chr4:95719800-95720200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:95719800-95720200	Flanking Active TSS	Fetal Heart	heart
18	chr4:95719800-95720200	Enhancers	Osteobl	bone
19	chr4:95719800-95720400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:95719800-95723400	Weak transcription	Ovary	ovary
21	chr4:95720000-95720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:95720000-95722000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:95720200-95720400	Enhancers	Fetal Heart	heart
24	chr4:95720400-95720600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:95720400-95722200	Weak transcription	Fetal Heart	heart
26	chr4:95720400-95722400	Weak transcription	A549	lung
27	chr4:95720400-95723200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:95720400-95726200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:95721600-95723800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:95722000-95723000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:95722200-95724200	Enhancers	Fetal Heart	heart
32	chr4:95722400-95722600	Enhancers	A549	lung
33	chr4:95722600-95723000	Weak transcription	A549	lung
34	chr4:95723000-95723800	Enhancers	A549	lung
35	chr4:95723000-95732200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:95723200-95723600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:95723200-95723600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr4:95723400-95723600	Enhancers	Ovary	ovary
39	chr4:95723600-95726200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:95723600-95733600	Weak transcription	Ovary	ovary
41	chr4:95723800-95725600	Weak transcription	A549	lung
42	chr4:95723800-95726400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:95723800-95727200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:95724000-95724800	Enhancers	Dnd41	blood
45	chr4:95724200-95724400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:95724800-95727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:95725600-95727200	Enhancers	A549	lung
48	chr4:95725800-95728000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:95726200-95726800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:95726200-95726800	Enhancers	Cortex derived primary cultured neurospheres	brain

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