Variant report

Variant	nsv437396
Chromosome Location	chr4:74552157-74561560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74555081..74557547-chr4:74559945..74561455,2	K562	blood:
2	chr4:74549171..74551747-chr4:74558717..74561075,2	K562	blood:
3	chr4:74557264..74559781-chr4:74565607..74567243,2	K562	blood:
4	chr4:74558088..74561478-chr4:74562636..74566265,4	K562	blood:
5	chr4:74549171..74550969-chr4:74559575..74562133,2	K562	blood:
6	chr4:74558541..74560997-chr4:74583803..74585905,2	K562	blood:
7	chr4:74552740..74555575-chr4:74963149..74964883,2	K562	blood:
8	chr4:74555081..74557547-chr4:74559945..74561455,2	K562	blood:
9	chr4:74559978..74562265-chr4:74562768..74565190,2	K562	blood:
10	chr4:74558633..74562298-chr4:74570528..74572669,3	MCF-7	breast:
11	chr4:74542484..74546380-chr4:74548286..74552440,3	K562	blood:

No data

Extended variants
information (count: 368 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1247607	chr4:74552157-74552158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141211435	chr4:74552165-74552166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551358567	chr4:74552211-74552212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1261934	chr4:74552224-74552225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1729688	chr4:74552297-74552298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530927549	chr4:74552310-74552311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189794188	chr4:74552321-74552322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183912063	chr4:74552362-74552363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528663790	chr4:74552365-74552366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547314041	chr4:74552465-74552466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562339264	chr4:74552483-74552484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571969376	chr4:74552516-74552517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147091522	chr4:74552580-74552581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557001942	chr4:74552587-74552588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188904684	chr4:74552595-74552596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34644830	chr4:74552596-74552597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193062371	chr4:74552618-74552619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573026259	chr4:74552691-74552692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183618686	chr4:74552707-74552708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187118584	chr4:74552759-74552760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191632540	chr4:74552771-74552772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544067661	chr4:74552778-74552779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58426664	chr4:74552796-74552797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1247608	chr4:74552814-74552815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530793104	chr4:74552828-74552829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367609118	chr4:74552879-74552880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184266861	chr4:74552895-74552896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115181106	chr4:74552925-74552926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58156755	chr4:74552936-74552937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61518684	chr4:74552939-74552940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138255187	chr4:74552949-74552950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527402322	chr4:74552966-74552967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60012525	chr4:74552975-74552976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79035841	chr4:74552977-74552978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57905485	chr4:74552978-74552979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2141466	chr4:74552992-74552993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191565365	chr4:74552993-74552994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568897718	chr4:74553028-74553029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149221571	chr4:74553061-74553062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375728350	chr4:74553090-74553091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554689250	chr4:74553121-74553122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566439996	chr4:74553212-74553213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533836244	chr4:74553264-74553265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369717504	chr4:74553289-74553290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185604939	chr4:74553332-74553333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544129447	chr4:74553336-74553337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556025972	chr4:74553401-74553402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575636441	chr4:74553413-74553414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11722921	chr4:74553435-74553436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564101004	chr4:74553443-74553444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Aortic dissecting aneurysms	22263138	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74546000-74555600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:74548600-74553000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:74550000-74552600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:74550200-74552800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:74550200-74555200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:74550200-74563600	Weak transcription	HMEC	breast
7	chr4:74550600-74552600	Weak transcription	HSMMtube	muscle
8	chr4:74550800-74555000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:74550800-74555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:74550800-74555600	Weak transcription	A549	lung
11	chr4:74551000-74555800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:74551800-74552800	Weak transcription	Hela-S3	cervix
13	chr4:74552600-74552800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:74552600-74553400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:74552800-74553000	Enhancers	HSMMtube	muscle
16	chr4:74552800-74553200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:74552800-74553200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:74552800-74553400	Enhancers	Hela-S3	cervix
19	chr4:74553000-74553200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:74553200-74553400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:74553200-74555400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:74553400-74555600	Weak transcription	Hela-S3	cervix
23	chr4:74553400-74558200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:74554800-74555600	Weak transcription	Osteobl	bone
25	chr4:74555000-74556800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:74555200-74556800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:74555400-74556400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr4:74555400-74556400	Enhancers	NHDF-Ad	bronchial
29	chr4:74555400-74556800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:74555600-74556000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:74555600-74556000	Enhancers	NHEK	skin
32	chr4:74555600-74556200	Enhancers	Hela-S3	cervix
33	chr4:74555600-74556400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:74555600-74556400	Enhancers	Osteobl	bone
35	chr4:74555600-74556600	Enhancers	NHLF	lung
36	chr4:74555600-74556800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:74555600-74556800	Enhancers	A549	lung
38	chr4:74555800-74556400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:74555800-74556400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:74555800-74556800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr4:74555800-74556800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr4:74556000-74556200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:74556000-74557800	Weak transcription	NHEK	skin
44	chr4:74556200-74556600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:74556200-74557800	Weak transcription	Hela-S3	cervix
46	chr4:74556400-74556800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr4:74556400-74557600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:74556400-74557800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:74556400-74563800	Weak transcription	NHDF-Ad	bronchial
50	chr4:74556400-74563800	Weak transcription	Osteobl	bone

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