Variant report

Variant	nsv879608
Chromosome Location	chr4:93480717-93612903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:93577929..93580454-chr4:93584774..93587320,2	K562	blood:
2	chr4:93434886..93436541-chr4:93486388..93487907,2	MCF-7	breast:
3	chr4:93577929..93580454-chr4:93584774..93587320,2	K562	blood:
4	chr4:93230221..93231021-chr4:93539897..93540682,3	MCF-7	breast:
5	chr4:93539970..93542462-chr4:93545753..93548309,2	K562	blood:
6	chr4:93539970..93542462-chr4:93545753..93548309,2	K562	blood:

Extended variants
information (count: 5343 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:5343 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7663643	chr4:93480717-93480718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555425176	chr4:93480748-93480749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574699397	chr4:93480762-93480763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184923013	chr4:93480879-93480880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537112328	chr4:93480882-93480883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529324550	chr4:93480904-93480905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557196182	chr4:93480915-93480916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577294907	chr4:93480919-93480920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188989552	chr4:93480934-93480935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573860741	chr4:93480995-93480996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537473616	chr4:93480997-93480998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558950977	chr4:93481030-93481031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559738159	chr4:93481088-93481089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180985555	chr4:93481101-93481102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs137990064	chr4:93481140-93481141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561026276	chr4:93481161-93481162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577150948	chr4:93481202-93481203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376919582	chr4:93481205-93481206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529931041	chr4:93481244-93481245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7689379	chr4:93481256-93481257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563218100	chr4:93481285-93481286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532270404	chr4:93481290-93481291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12650228	chr4:93481296-93481297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375737626	chr4:93481312-93481313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565670707	chr4:93481320-93481321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574703027	chr4:93481327-93481328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149383552	chr4:93481352-93481353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542311092	chr4:93481390-93481391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548485778	chr4:93481471-93481472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568284827	chr4:93481552-93481553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537224500	chr4:93481592-93481593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17019576	chr4:93481635-93481636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115099361	chr4:93481649-93481650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201667008	chr4:93481668-93481669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368672470	chr4:93481670-93481671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76099910	chr4:93481684-93481685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541299616	chr4:93481723-93481724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554926677	chr4:93481775-93481776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574816003	chr4:93481781-93481782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377329061	chr4:93481850-93481851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563541212	chr4:93481859-93481860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71579569	chr4:93481862-93481863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565013114	chr4:93481875-93481876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186115763	chr4:93481896-93481897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532498739	chr4:93481923-93481924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545890031	chr4:93481924-93481925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547606930	chr4:93481934-93481935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35177691	chr4:93481946-93481947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528095939	chr4:93481950-93481951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34612832	chr4:93481983-93481984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93478000-93493600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:93487000-93487800	Active TSS	Brain Angular Gyrus	brain
3	chr4:93487000-93488000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:93487400-93487600	Active TSS	Brain Anterior Caudate	brain
5	chr4:93487400-93488000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:93487600-93487800	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr4:93488200-93490000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:93488800-93497400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:93489400-93489600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:93489800-93490200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:93490000-93490600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:93490200-93490400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr4:93490400-93493800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:93490600-93490800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr4:93490600-93494000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:93493600-93494200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr4:93493800-93494800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr4:93494000-93494600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:93494800-93497200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:93495400-93497400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:93495400-93497400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:93495600-93511400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:93495600-93535600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:93496200-93496400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr4:93496400-93540200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:93497000-93498000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:93497200-93497800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:93497400-93497600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:93497400-93497800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:93497600-93498000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:93497800-93511200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:93497800-93524200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:93498000-93521800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:93500600-93500800	Enhancers	Brain Angular Gyrus	brain
35	chr4:93500600-93500800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr4:93501000-93502600	Weak transcription	Brain Angular Gyrus	brain
37	chr4:93501200-93502600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:93501600-93501800	Enhancers	Brain Anterior Caudate	brain
39	chr4:93501800-93504200	Weak transcription	Brain Anterior Caudate	brain
40	chr4:93502400-93502600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:93502600-93502800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr4:93502600-93502800	Enhancers	Brain Angular Gyrus	brain
43	chr4:93502600-93503200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:93502800-93531400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr4:93503000-93504800	Enhancers	Brain Substantia Nigra	brain
46	chr4:93503200-93503600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr4:93503600-93505400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr4:93504200-93504600	Enhancers	Brain Anterior Caudate	brain
49	chr4:93504400-93504600	Enhancers	Brain Angular Gyrus	brain
50	chr4:93507000-93510800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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