Variant report

Variant	nsv818243
Chromosome Location	chr4:73707973-73758511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 927 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:927 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7676987	chr4:73707973-73707974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543531118	chr4:73707985-73707986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76240392	chr4:73708017-73708018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370851278	chr4:73708024-73708025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376287342	chr4:73708040-73708041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368213543	chr4:73708041-73708042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386400471	chr4:73708042-73708043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386400472	chr4:73708052-73708053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56343084	chr4:73708054-73708055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529242158	chr4:73708063-73708064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7681727	chr4:73708087-73708088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560023987	chr4:73708092-73708093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527555971	chr4:73708121-73708122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552370911	chr4:73708122-73708123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71603610	chr4:73708142-73708143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377369512	chr4:73708148-73708149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181028035	chr4:73708167-73708168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374039929	chr4:73708185-73708186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549600221	chr4:73708205-73708206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71603611	chr4:73708232-73708233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185504612	chr4:73708240-73708241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570130038	chr4:73708245-73708246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535448259	chr4:73708259-73708260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375417249	chr4:73708298-73708299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553764358	chr4:73708340-73708341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566395216	chr4:73708381-73708382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573922844	chr4:73708432-73708433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114692960	chr4:73708501-73708502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558358609	chr4:73708519-73708520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78724900	chr4:73708520-73708521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543937216	chr4:73708527-73708528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555438246	chr4:73708569-73708570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573755462	chr4:73708599-73708600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541040774	chr4:73708603-73708604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147387382	chr4:73708615-73708616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527611389	chr4:73708620-73708621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559432816	chr4:73708658-73708659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370434216	chr4:73708661-73708662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1841585	chr4:73708666-73708667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531035510	chr4:73708692-73708693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549953431	chr4:73708708-73708709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200467135	chr4:73708737-73708738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs5859352	chr4:73708752-73708753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561778446	chr4:73708761-73708762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528424648	chr4:73708791-73708792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140059595	chr4:73708795-73708796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547441314	chr4:73708823-73708824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189578148	chr4:73708835-73708836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551776853	chr4:73708839-73708840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150047574	chr4:73708900-73708901	Weak transcription Enhancers	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73706600-73711800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:73707000-73712000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:73707200-73711800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:73707800-73708600	Enhancers	Fetal Heart	heart
5	chr4:73708000-73708400	Enhancers	Osteobl	bone
6	chr4:73708000-73709400	Enhancers	NH-A	brain
7	chr4:73708000-73710200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:73708000-73710400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:73708400-73708800	Weak transcription	Osteobl	bone
10	chr4:73708800-73709600	Enhancers	Osteobl	bone
11	chr4:73711600-73711800	Enhancers	K562	blood
12	chr4:73711800-73712000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:73711800-73712200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:73711800-73712600	Flanking Active TSS	K562	blood
15	chr4:73711800-73712800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:73711800-73712800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:73711800-73712800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:73711800-73712800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:73712000-73712200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:73712000-73712400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:73712000-73712600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:73712000-73712800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:73712000-73712800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:73712000-73712800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:73712200-73712600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr4:73712400-73712800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:73712400-73713000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:73712600-73712800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr4:73712600-73713000	Enhancers	K562	blood
30	chr4:73712800-73713000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:73712800-73713000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:73713400-73713800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:73722800-73724800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:73723600-73723800	Enhancers	HMEC	breast
35	chr4:73723600-73724800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:73723600-73724800	Enhancers	Osteobl	bone
37	chr4:73723800-73724200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:73723800-73724200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:73724800-73726200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:73726200-73726800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:73727000-73727200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:73732200-73732800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:73732600-73733200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:73740600-73741600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:73740800-73741000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:73740800-73741600	Enhancers	Aorta	Aorta
47	chr4:73741000-73741200	Enhancers	Ovary	ovary
48	chr4:73741400-73742600	Weak transcription	Ovary	ovary
49	chr4:73741600-73741800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:73742600-73743000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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