Variant report

Variant	nsv879960
Chromosome Location	chr4:131620483-131688005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:131669140..131669695-chr4:131729818..131730848,3	MCF-7	breast:
2	chr4:131484502..131485054-chr4:131625879..131626789,3	MCF-7	breast:
3	chr4:131523291..131525354-chr4:131632545..131634300,2	K562	blood:

Extended variants
information (count: 1344 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1489445	chr4:131620483-131620484	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115284531	chr4:131620501-131620502	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564067873	chr4:131620537-131620538	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549847195	chr4:131620540-131620541	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568035955	chr4:131620567-131620568	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370276934	chr4:131620583-131620584	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs536574601	chr4:131620613-131620614	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs183731654	chr4:131620630-131620631	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188261579	chr4:131620650-131620651	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs534139457	chr4:131620687-131620688	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558684006	chr4:131620693-131620694	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs576972185	chr4:131620700-131620701	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs193256135	chr4:131620726-131620727	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556317630	chr4:131620741-131620742	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs1906836	chr4:131620773-131620774	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532231253	chr4:131620790-131620791	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs368108095	chr4:131620794-131620795	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs75191823	chr4:131620796-131620797	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527545449	chr4:131620810-131620811	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs546025857	chr4:131620841-131620842	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564268222	chr4:131620859-131620860	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs183672702	chr4:131620884-131620885	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150853345	chr4:131620886-131620887	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78848499	chr4:131620899-131620900	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs11943340	chr4:131620918-131620919	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs528904104	chr4:131620947-131620948	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs550443021	chr4:131620953-131620954	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs373864027	chr4:131620956-131620957	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs186973789	chr4:131620968-131620969	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs534220572	chr4:131621052-131621053	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs552394738	chr4:131621069-131621070	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570697286	chr4:131621094-131621095	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs139331608	chr4:131621111-131621112	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs556643795	chr4:131621112-131621113	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574807321	chr4:131621118-131621119	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535854255	chr4:131621123-131621124	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs13127764	chr4:131621131-131621132	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs553836434	chr4:131621132-131621133	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs79416374	chr4:131621156-131621157	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs576168545	chr4:131621167-131621168	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113671435	chr4:131621169-131621170	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs564304994	chr4:131621192-131621193	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs576280015	chr4:131621193-131621194	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs543223356	chr4:131621205-131621206	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs56172357	chr4:131621216-131621217	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs55767447	chr4:131621226-131621227	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547371385	chr4:131621232-131621233	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569017236	chr4:131621317-131621318	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs68103088	chr4:131621323-131621324	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73851921	chr4:131621331-131621332	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131619200-131623200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:131620400-131621400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:131622800-131623000	Enhancers	HMEC	breast
4	chr4:131623000-131624000	Weak transcription	HMEC	breast
5	chr4:131623200-131623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:131623600-131624000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:131624000-131626200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:131624000-131626800	Enhancers	HMEC	breast
9	chr4:131624400-131626200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:131624400-131626200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:131624400-131626200	Enhancers	NHEK	skin
12	chr4:131626000-131626800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr4:131626800-131632600	Weak transcription	HMEC	breast
14	chr4:131628000-131631200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:131632400-131634800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:131632400-131634800	Enhancers	NHEK	skin
17	chr4:131632600-131634800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:131632600-131634800	Enhancers	HMEC	breast
19	chr4:131633000-131633400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:131633600-131634800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:131633800-131634600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:131639800-131643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:131641000-131641400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:131641400-131643400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:131643000-131643800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:131643200-131643600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:131643200-131644400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:131643200-131644600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:131643400-131644000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:131643400-131644000	Enhancers	NHEK	skin
31	chr4:131643400-131645000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:131643600-131644000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:131643600-131644000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr4:131643600-131644000	Enhancers	HMEC	breast
35	chr4:131643600-131644200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:131643800-131644000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:131643800-131644200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:131643800-131644200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr4:131643800-131644200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:131644000-131644200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr4:131644200-131645200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:131644200-131645400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:131645200-131645600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:131645600-131646000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:131657600-131659400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:131658200-131660600	ZNF genes & repeats	Dnd41	blood
47	chr4:131659000-131660200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:131659400-131659600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:131665800-131666200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:131665800-131666400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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