Variant report

Variant	nsv1014364
Chromosome Location	chr4:73724140-73771587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:73431201..73433969-chr4:73767436..73769841,2	K562	blood:
2	chr4:73568023..73568623-chr4:73752188..73753038,2	MCF-7	breast:
3	chr4:73226037..73227750-chr4:73750692..73753662,2	K562	blood:
4	chr4:73192107..73193147-chr4:73752130..73753066,3	K562	blood:

Variant related genes	Relation type
ENSG00000156140	chromatin interactions

Extended variants
information (count: 998 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542456226	chr4:73724154-73724155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs930985	chr4:73724178-73724179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372235596	chr4:73724181-73724182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528380607	chr4:73724214-73724215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558206050	chr4:73724278-73724279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143320115	chr4:73724290-73724291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566052437	chr4:73724424-73724425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530555214	chr4:73724440-73724441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533186798	chr4:73724466-73724467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75564195	chr4:73724473-73724474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545025428	chr4:73724541-73724542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570054569	chr4:73724543-73724544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189854185	chr4:73724553-73724554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577772264	chr4:73724559-73724560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555529194	chr4:73724561-73724562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543609936	chr4:73724572-73724573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377098280	chr4:73724632-73724633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75724190	chr4:73724667-73724668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71589608	chr4:73724677-73724678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201222827	chr4:73724683-73724684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201313328	chr4:73724686-73724687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370645049	chr4:73724687-73724688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72856269	chr4:73724713-73724714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542745814	chr4:73724734-73724735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181611786	chr4:73724764-73724765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376108930	chr4:73724777-73724778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369271850	chr4:73724817-73724818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72661015	chr4:73724909-73724910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372108877	chr4:73724910-73724911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs315368	chr4:73724919-73724920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148351432	chr4:73724931-73724932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561043758	chr4:73725022-73725023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184439065	chr4:73725100-73725101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563708049	chr4:73725125-73725126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540498799	chr4:73725148-73725149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565187418	chr4:73725185-73725186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371048790	chr4:73725225-73725226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116084335	chr4:73725257-73725258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370034663	chr4:73725264-73725265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376264520	chr4:73725275-73725276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141561371	chr4:73725283-73725284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150487484	chr4:73725293-73725294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188492261	chr4:73725310-73725311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181330172	chr4:73725317-73725318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113118931	chr4:73725335-73725336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534900459	chr4:73725357-73725358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531927114	chr4:73725380-73725381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564226839	chr4:73725390-73725391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546845735	chr4:73725398-73725399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139453368	chr4:73725513-73725514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73722800-73724800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:73723600-73724800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:73723600-73724800	Enhancers	Osteobl	bone
4	chr4:73723800-73724200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:73723800-73724200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:73724800-73726200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:73726200-73726800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:73727000-73727200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:73732200-73732800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:73732600-73733200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:73740600-73741600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:73740800-73741000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:73740800-73741600	Enhancers	Aorta	Aorta
14	chr4:73741000-73741200	Enhancers	Ovary	ovary
15	chr4:73741400-73742600	Weak transcription	Ovary	ovary
16	chr4:73741600-73741800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:73742600-73743000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:73742600-73743000	Enhancers	Ovary	ovary
19	chr4:73742800-73743000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:73751200-73752600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:73752000-73753200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:73752200-73752800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:73752200-73753400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:73752200-73753400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:73752400-73753400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:73752600-73752800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:73752600-73753400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr4:73752600-73753400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:73752800-73753200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr4:73752800-73753200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr4:73752800-73753200	Enhancers	Liver	Liver
32	chr4:73752800-73753400	Enhancers	Adipose Nuclei	Adipose
33	chr4:73752800-73753600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:73752800-73753600	Enhancers	Osteobl	bone
35	chr4:73752800-73754800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:73753000-73753200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:73753000-73753400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr4:73753200-73753400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr4:73753200-73753400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:73753400-73753800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr4:73753400-73761200	Weak transcription	Adipose Nuclei	Adipose
42	chr4:73753600-73754000	Weak transcription	Osteobl	bone
43	chr4:73753800-73754000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr4:73753800-73754000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:73754000-73754600	Enhancers	Osteobl	bone
46	chr4:73754000-73765200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr4:73754200-73754600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:73754600-73761600	Weak transcription	Osteobl	bone
49	chr4:73754800-73758200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:73757600-73759200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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