Variant report

Variant	nsv525583
Chromosome Location	chr4:88234593-88239150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88229442..88232296-chr4:88234376..88236070,2	K562	blood:
2	chr4:88225793..88228433-chr4:88233021..88235909,2	MCF-7	breast:
3	chr4:88237707..88239445-chr4:88243261..88245305,2	MCF-7	breast:
4	chr4:88225790..88227669-chr4:88236912..88239118,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170509	chromatin interactions

Extended variants
information (count: 193 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7698406	chr4:88234593-88234594	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185513499	chr4:88234594-88234595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149679352	chr4:88234635-88234636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554098575	chr4:88234647-88234648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111459298	chr4:88234671-88234672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145617715	chr4:88234716-88234717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536724374	chr4:88234723-88234724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554881911	chr4:88234729-88234730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73839184	chr4:88234777-88234778	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541192684	chr4:88234798-88234799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73839185	chr4:88234815-88234816	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577571684	chr4:88234843-88234844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139442898	chr4:88234850-88234851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73839187	chr4:88234853-88234854	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529766859	chr4:88234864-88234865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7698974	chr4:88234874-88234875	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563363350	chr4:88234880-88234881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559107427	chr4:88234925-88234926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530612782	chr4:88234935-88234936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552091804	chr4:88234984-88234985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371697119	chr4:88234994-88234995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372756309	chr4:88234998-88234999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201455716	chr4:88235022-88235023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570425723	chr4:88235041-88235042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372241178	chr4:88235045-88235046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376004820	chr4:88235057-88235058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142648167	chr4:88235068-88235069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552212851	chr4:88235094-88235095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547498403	chr4:88235096-88235097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537832718	chr4:88235097-88235098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80182459	chr4:88235098-88235099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566033418	chr4:88235119-88235120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368298699	chr4:88235124-88235125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537764715	chr4:88235129-88235130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372499266	chr4:88235147-88235148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112779656	chr4:88235221-88235222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377409191	chr4:88235226-88235227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536381487	chr4:88235257-88235258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144084527	chr4:88235299-88235300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370472750	chr4:88235306-88235307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576757873	chr4:88235334-88235335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116524619	chr4:88235365-88235366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533085473	chr4:88235386-88235387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146491526	chr4:88235397-88235398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541674845	chr4:88235400-88235401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559119650	chr4:88235411-88235412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140579093	chr4:88235449-88235450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111592962	chr4:88235490-88235491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375884554	chr4:88235527-88235528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76083133	chr4:88235534-88235535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88225400-88237800	Strong transcription	Liver	Liver
2	chr4:88228000-88239600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:88228400-88237800	Weak transcription	Hela-S3	cervix
4	chr4:88229000-88235600	Weak transcription	Pancreas	Pancrea
5	chr4:88229000-88245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:88229600-88235800	Weak transcription	Ovary	ovary
7	chr4:88230000-88240000	Weak transcription	Brain Angular Gyrus	brain
8	chr4:88230600-88239600	Weak transcription	Primary T cells from cord blood	blood
9	chr4:88231200-88235600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:88231400-88237400	Weak transcription	Left Ventricle	heart
11	chr4:88234000-88235600	Weak transcription	Adipose Nuclei	Adipose
12	chr4:88234400-88237000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:88235200-88243800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:88235600-88235800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:88235600-88235800	Enhancers	Adipose Nuclei	Adipose
16	chr4:88235600-88236800	Enhancers	Pancreas	Pancrea
17	chr4:88235600-88241400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:88235800-88236000	Enhancers	Ovary	ovary
19	chr4:88235800-88236200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:88235800-88238400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:88235800-88242600	Weak transcription	Adipose Nuclei	Adipose
22	chr4:88236000-88236400	Weak transcription	Ovary	ovary
23	chr4:88236000-88236600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:88236200-88236400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:88236200-88236600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:88236200-88236600	Active TSS	Osteobl	bone
27	chr4:88236600-88236800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:88236800-88239000	Weak transcription	Pancreas	Pancrea
29	chr4:88236800-88243200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:88237400-88238400	Strong transcription	Left Ventricle	heart
31	chr4:88237800-88238800	Genic enhancers	Liver	Liver
32	chr4:88237800-88239800	Enhancers	Hela-S3	cervix
33	chr4:88238200-88238600	Enhancers	HepG2	liver
34	chr4:88238400-88238600	Enhancers	Fetal Intestine Small	intestine
35	chr4:88238400-88239200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:88238400-88239600	Weak transcription	Left Ventricle	heart
37	chr4:88238600-88239200	Weak transcription	Fetal Intestine Small	intestine
38	chr4:88238600-88253400	Weak transcription	HepG2	liver
39	chr4:88238800-88239000	Weak transcription	Liver	Liver
40	chr4:88239000-88239600	Genic enhancers	Liver	Liver

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