Variant report

Variant	nsv437923
Chromosome Location	chr4:73699066-73758650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:73192107..73193147-chr4:73752130..73753066,3	K562	blood:
2	chr4:73711557..73713794-chr4:73715010..73716796,2	K562	blood:
3	chr4:73226037..73227750-chr4:73750692..73753662,2	K562	blood:
4	chr4:73711557..73713794-chr4:73715010..73716796,2	K562	blood:
5	chr4:73568023..73568623-chr4:73752188..73753038,2	MCF-7	breast:

Extended variants
information (count: 1425 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1425 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188795	chr4:73699066-73699067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529383694	chr4:73699080-73699081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547847789	chr4:73699135-73699136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56031543	chr4:73699144-73699145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533353536	chr4:73699163-73699164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139000787	chr4:73699184-73699185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570419505	chr4:73699199-73699200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537708082	chr4:73699204-73699205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372086353	chr4:73699233-73699234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76689218	chr4:73699235-73699236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555958708	chr4:73699239-73699240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34224520	chr4:73699247-73699248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78703597	chr4:73699271-73699272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77598762	chr4:73699282-73699283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568219884	chr4:73699294-73699295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80016934	chr4:73699301-73699302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62256932	chr4:73699315-73699316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs76230610	chr4:73699318-73699319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535222996	chr4:73699341-73699342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553812955	chr4:73699342-73699343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199945533	chr4:73699378-73699379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550643751	chr4:73699439-73699440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115672974	chr4:73699442-73699443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539435207	chr4:73699447-73699448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567260406	chr4:73699453-73699454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10155153	chr4:73699467-73699468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs6815004	chr4:73699506-73699507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35984003	chr4:73699518-73699519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34644225	chr4:73699525-73699526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566789145	chr4:73699533-73699534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372175056	chr4:73699542-73699543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544094825	chr4:73699580-73699581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143028431	chr4:73699608-73699609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538931473	chr4:73699652-73699653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559015926	chr4:73699661-73699662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574163397	chr4:73699672-73699673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6833453	chr4:73699681-73699682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs76266219	chr4:73699709-73699710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559795027	chr4:73699716-73699717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533207699	chr4:73699724-73699725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74662962	chr4:73699767-73699768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147482081	chr4:73699773-73699774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563309713	chr4:73699788-73699789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139326445	chr4:73699834-73699835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549645019	chr4:73699836-73699837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181594921	chr4:73699839-73699840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6832369	chr4:73699843-73699844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs6810425	chr4:73699850-73699851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565769840	chr4:73699861-73699862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183873978	chr4:73699906-73699907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Acute myeloid leukemia	21251322	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73687200-73707800	Weak transcription	Fetal Heart	heart
2	chr4:73706000-73706200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:73706400-73706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:73706400-73707000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:73706400-73707200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:73706600-73711800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:73707000-73712000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:73707200-73711800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:73707800-73708600	Enhancers	Fetal Heart	heart
10	chr4:73708000-73708400	Enhancers	Osteobl	bone
11	chr4:73708000-73709400	Enhancers	NH-A	brain
12	chr4:73708000-73710200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:73708000-73710400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:73708400-73708800	Weak transcription	Osteobl	bone
15	chr4:73708800-73709600	Enhancers	Osteobl	bone
16	chr4:73711600-73711800	Enhancers	K562	blood
17	chr4:73711800-73712000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:73711800-73712200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr4:73711800-73712600	Flanking Active TSS	K562	blood
20	chr4:73711800-73712800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:73711800-73712800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:73711800-73712800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:73711800-73712800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:73712000-73712200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:73712000-73712400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:73712000-73712600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:73712000-73712800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:73712000-73712800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr4:73712000-73712800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:73712200-73712600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:73712400-73712800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:73712400-73713000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:73712600-73712800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr4:73712600-73713000	Enhancers	K562	blood
35	chr4:73712800-73713000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr4:73712800-73713000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:73713400-73713800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:73722800-73724800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:73723600-73723800	Enhancers	HMEC	breast
40	chr4:73723600-73724800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:73723600-73724800	Enhancers	Osteobl	bone
42	chr4:73723800-73724200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:73723800-73724200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:73724800-73726200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:73726200-73726800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:73727000-73727200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:73732200-73732800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:73732600-73733200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:73740600-73741600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:73740800-73741000	Enhancers	HUES64 Cell Line	embryonic stem cell

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