Variant report

Variant	nsv293592
Chromosome Location	chr4:100258775-100259552
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	chr4:100259144..100260774-chr4:100261569..100263685,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528684283	chr4:100258783-100258784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62307294	chr4:100258785-100258786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547023752	chr4:100258818-100258819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558933150	chr4:100258833-100258834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571695056	chr4:100258838-100258839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532361862	chr4:100258850-100258851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs36019411	chr4:100258859-100258860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569592247	chr4:100258952-100258953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532313155	chr4:100258975-100258976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536920331	chr4:100259039-100259040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1442481	chr4:100259047-100259048	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs3846449	chr4:100259126-100259127	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534521430	chr4:100259301-100259302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193058265	chr4:100259344-100259345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1693456	chr4:100259351-100259352	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1789901	chr4:100259369-100259370	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139554733	chr4:100259423-100259424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575336086	chr4:100259443-100259444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183389061	chr4:100259458-100259459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537354366	chr4:100259500-100259501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78440521	chr4:100259515-100259516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561424024	chr4:100259547-100259548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200172585	chr4:100259549-100259550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200097102	chr4:100259550-100259551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200023911	chr4:100259551-100259552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61671413	chr4:100259552-100259553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100245800-100274200	Weak transcription	Pancreas	Pancrea
2	chr4:100251400-100259800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:100251400-100259800	Weak transcription	Fetal Lung	lung
4	chr4:100251400-100272800	Weak transcription	Adipose Nuclei	Adipose
5	chr4:100255000-100260400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:100256200-100261200	Weak transcription	Fetal Intestine Large	intestine
7	chr4:100256200-100267800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:100257200-100271600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:100257800-100264000	Strong transcription	Liver	Liver
10	chr4:100258000-100272800	Weak transcription	Fetal Stomach	stomach
11	chr4:100258400-100259000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:100258400-100271600	Weak transcription	Colonic Mucosa	Colon
13	chr4:100259000-100263600	Strong transcription	Rectal Mucosa Donor 31	rectum

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