Variant report

Variant	nsv1028788
Chromosome Location	chr4:167315021-167403235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:167349986..167352184-chr4:167352810..167354578,2	K562	blood:
2	chr4:167055604..167058496-chr4:167332499..167335064,2	K562	blood:
3	chr4:167332041..167334748-chr4:167341372..167343978,2	K562	blood:
4	chr4:167332041..167334748-chr4:167341372..167343978,2	K562	blood:
5	chr4:167349986..167352184-chr4:167352810..167354578,2	K562	blood:

Extended variants
information (count: 2255 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2255 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59341511	chr4:167319810-167319811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs58695898	chr4:167319830-167319831	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568883033	chr4:167319845-167319846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572136474	chr4:167319854-167319855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146682443	chr4:167319914-167319915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554684964	chr4:167319926-167319927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529983724	chr4:167319930-167319931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386681757	chr4:167319941-167319942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61427435	chr4:167319943-167319944	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140671503	chr4:167319944-167319945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533273178	chr4:167319970-167319971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544946149	chr4:167320037-167320038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560371148	chr4:167320101-167320102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570580861	chr4:167320128-167320129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548988654	chr4:167320137-167320138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534803025	chr4:167320150-167320151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192925190	chr4:167320198-167320199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72970231	chr4:167320238-167320239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550367675	chr4:167320243-167320244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373107915	chr4:167320249-167320250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200800640	chr4:167320252-167320253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386681758	chr4:167320254-167320255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60588643	chr4:167320255-167320256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554203825	chr4:167320336-167320337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185020802	chr4:167320350-167320351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536295370	chr4:167320356-167320357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188988474	chr4:167320371-167320372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144370957	chr4:167320401-167320402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146643533	chr4:167320431-167320432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181782761	chr4:167320443-167320444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114393541	chr4:167320444-167320445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545170456	chr4:167320453-167320454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184615306	chr4:167320468-167320469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367562636	chr4:167320471-167320472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577219811	chr4:167320594-167320595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74439278	chr4:167320686-167320687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75069719	chr4:167320712-167320713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9993036	chr4:167320769-167320770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531459698	chr4:167320798-167320799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552909349	chr4:167320803-167320804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10015825	chr4:167320821-167320822	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs141410664	chr4:167320827-167320828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532637138	chr4:167320833-167320834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143258833	chr4:167320836-167320837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112727528	chr4:167320850-167320851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375739159	chr4:167320855-167320856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566037128	chr4:167320878-167320879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562225359	chr4:167320930-167320931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189451744	chr4:167320977-167320978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148298305	chr4:167320998-167320999	Enhancers	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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167319800-167320600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:167319800-167321400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:167321400-167321600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:167321600-167321800	Enhancers	Osteobl	bone
5	chr4:167321600-167322200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr4:167322200-167322800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:167322800-167323200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr4:167324600-167325200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:167324800-167325400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:167325200-167325600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:167329400-167331000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr4:167331000-167332800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:167331600-167333000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:167331800-167332600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:167331800-167332600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:167331800-167332600	Enhancers	Osteobl	bone
17	chr4:167332000-167332400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:167332200-167332400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:167332400-167337600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:167332800-167334800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr4:167333000-167342200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:167334200-167334600	Enhancers	Fetal Brain Male	brain
23	chr4:167334400-167336400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:167336400-167341800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:167340200-167340400	Enhancers	Aorta	Aorta
26	chr4:167340400-167341200	Weak transcription	Aorta	Aorta
27	chr4:167340400-167341800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:167341200-167343200	Enhancers	Aorta	Aorta
29	chr4:167341600-167343400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:167341800-167343800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:167341800-167344400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:167341800-167346600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:167342200-167345000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:167342200-167345200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:167342200-167345200	Enhancers	Osteobl	bone
36	chr4:167342200-167346000	Enhancers	NH-A	brain
37	chr4:167342400-167343400	Enhancers	HSMM	muscle
38	chr4:167342400-167343400	Enhancers	HSMMtube	muscle
39	chr4:167342400-167345200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:167342600-167343400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:167342800-167343200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:167342800-167343400	Enhancers	NHLF	lung
43	chr4:167343000-167343400	Enhancers	NHDF-Ad	bronchial
44	chr4:167343000-167343600	Enhancers	HUVEC	blood vessel
45	chr4:167343000-167345000	Enhancers	HMEC	breast
46	chr4:167343200-167343400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:167343200-167344400	Weak transcription	Aorta	Aorta
48	chr4:167343400-167344400	Weak transcription	HSMM	muscle
49	chr4:167343400-167344800	Weak transcription	HSMMtube	muscle
50	chr4:167343800-167344200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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