Variant report

Variant	nsv966301
Chromosome Location	chr4:100264071-100264887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373118003	chr4:100264075-100264076	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75301428	chr4:100264081-100264082	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6413444	chr4:100264102-100264103	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369870334	chr4:100264114-100264115	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77199410	chr4:100264127-100264128	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561697999	chr4:100264165-100264166	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74561381	chr4:100264167-100264168	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78113489	chr4:100264168-100264169	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528886854	chr4:100264170-100264171	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80086338	chr4:100264171-100264172	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78115560	chr4:100264173-100264174	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377645569	chr4:100264181-100264182	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200810515	chr4:100264209-100264210	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528054596	chr4:100264216-100264217	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35088274	chr4:100264224-100264225	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78680159	chr4:100264236-100264237	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533562839	chr4:100264276-100264277	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552031730	chr4:100264302-100264303	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539830318	chr4:100264317-100264318	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570149120	chr4:100264323-100264324	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375629006	chr4:100264342-100264343	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs283410	chr4:100264399-100264400	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549230888	chr4:100264431-100264432	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567603185	chr4:100264452-100264453	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534715876	chr4:100264467-100264468	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192613428	chr4:100264545-100264546	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572053511	chr4:100264566-100264567	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34250750	chr4:100264578-100264579	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373302387	chr4:100264591-100264592	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1631460	chr4:100264620-100264621	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576181661	chr4:100264694-100264695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543459838	chr4:100264764-100264765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100245800-100274200	Weak transcription	Pancreas	Pancrea
2	chr4:100251400-100272800	Weak transcription	Adipose Nuclei	Adipose
3	chr4:100256200-100267800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:100257200-100271600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:100258000-100272800	Weak transcription	Fetal Stomach	stomach
6	chr4:100258400-100271600	Weak transcription	Colonic Mucosa	Colon
7	chr4:100259800-100268600	Strong transcription	Duodenum Mucosa	Duodenum
8	chr4:100260200-100270600	Weak transcription	Stomach Mucosa	stomach
9	chr4:100260600-100272600	Weak transcription	Fetal Intestine Small	intestine
10	chr4:100261000-100271600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:100261200-100270600	Weak transcription	Fetal Lung	lung
12	chr4:100261200-100273800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:100261800-100273800	Weak transcription	Ovary	ovary
14	chr4:100263200-100265600	Strong transcription	Fetal Intestine Large	intestine
15	chr4:100263200-100273800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:100263600-100264600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:100264000-100264400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:100264000-100264600	Genic enhancers	Liver	Liver
19	chr4:100264000-100268400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr4:100264600-100265800	Strong transcription	Liver	Liver
21	chr4:100264600-100266600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr4:100264800-100267600	Weak transcription	Left Ventricle	heart
23	chr4:100264800-100274200	Weak transcription	Gastric	stomach

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