Variant report

Variant	nsv1014431
Chromosome Location	chr4:93464326-93618241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 6170 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:6170 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185857454	chr4:93464330-93464331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536267954	chr4:93464352-93464353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555609503	chr4:93464353-93464354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575427999	chr4:93464432-93464433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544529704	chr4:93464483-93464484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145636596	chr4:93464501-93464502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541776027	chr4:93464524-93464525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577419539	chr4:93464537-93464538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13145212	chr4:93464584-93464585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs74741261	chr4:93464637-93464638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191753289	chr4:93464660-93464661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183115059	chr4:93464684-93464685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543356034	chr4:93464732-93464733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374803056	chr4:93464774-93464775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531899399	chr4:93464840-93464841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571735466	chr4:93464856-93464857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552147992	chr4:93464931-93464932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540170664	chr4:93464989-93464990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571824995	chr4:93464992-93464993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527900300	chr4:93465044-93465045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146533232	chr4:93465104-93465105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13146517	chr4:93465112-93465113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536781582	chr4:93465118-93465119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556270304	chr4:93465125-93465126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533107995	chr4:93465175-93465176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570072815	chr4:93465219-93465220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537702194	chr4:93465257-93465258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11097340	chr4:93465297-93465298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs188000099	chr4:93465326-93465327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370500433	chr4:93465336-93465337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372966394	chr4:93465339-93465340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540059312	chr4:93465347-93465348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75478748	chr4:93465413-93465414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553576919	chr4:93465434-93465435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376187608	chr4:93465474-93465475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190930116	chr4:93465508-93465509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182356838	chr4:93465546-93465547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562338676	chr4:93465624-93465625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534394530	chr4:93465639-93465640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531342792	chr4:93465660-93465661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145148483	chr4:93465681-93465682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76796438	chr4:93465703-93465704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138907260	chr4:93465769-93465770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139230482	chr4:93465784-93465785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527861133	chr4:93465826-93465827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547989603	chr4:93465843-93465844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567883438	chr4:93465844-93465845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530129620	chr4:93465852-93465853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186936220	chr4:93465874-93465875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569908744	chr4:93465876-93465877	Weak transcription	n/a	n/a	Overlapped CNVs	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:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93457200-93468600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:93457200-93476600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:93460000-93475200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:93460000-93476600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:93465000-93465600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:93466400-93468000	Enhancers	Fetal Brain Male	brain
7	chr4:93467400-93476400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:93468600-93469400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:93469400-93470400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:93470400-93470800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:93470800-93476400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:93471400-93474400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:93473600-93476200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:93474000-93474200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:93474200-93476600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:93475200-93478000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:93476200-93477200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:93476400-93477200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:93476400-93477400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:93476400-93477800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:93476400-93478000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:93476400-93478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:93476600-93477400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:93476600-93477400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:93476600-93477800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:93476800-93478000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr4:93478000-93493600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:93487000-93487800	Active TSS	Brain Angular Gyrus	brain
29	chr4:93487000-93488000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:93487400-93487600	Active TSS	Brain Anterior Caudate	brain
31	chr4:93487400-93488000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:93487600-93487800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr4:93488200-93490000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:93488800-93497400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:93489400-93489600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:93489800-93490200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:93490000-93490600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:93490200-93490400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr4:93490400-93493800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:93490600-93490800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr4:93490600-93494000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:93493600-93494200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr4:93493800-93494800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr4:93494000-93494600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:93494800-93497200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:93495400-93497400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:93495400-93497400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:93495600-93511400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:93495600-93535600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:93496200-93496400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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