Variant report

Variant	nsv470054
Chromosome Location	chr4:92623064-92679356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:92649464..92651523-chr4:92652088..92654167,2	MCF-7	breast:
2	chr4:92649464..92651523-chr4:92652088..92654167,2	MCF-7	breast:
3	chr14:89306981..89307680-chr4:92635846..92636574,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165533	chromatin interactions

Extended variants
information (count: 540 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557809270	chr4:92628834-92628835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577697899	chr4:92628869-92628870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193300541	chr4:92628876-92628877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553989911	chr4:92628877-92628878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185568371	chr4:92628887-92628888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552853009	chr4:92628900-92628901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542923816	chr4:92628902-92628903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544764537	chr4:92628913-92628914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562509955	chr4:92628952-92628953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531753515	chr4:92628954-92628955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6834517	chr4:92628957-92628958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141263575	chr4:92628969-92628970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565366732	chr4:92628976-92628977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527826496	chr4:92629000-92629001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187604414	chr4:92629008-92629009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566678474	chr4:92629048-92629049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377037260	chr4:92629141-92629142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191365923	chr4:92629191-92629192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535285764	chr4:92629226-92629227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372917752	chr4:92629248-92629249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549317901	chr4:92629258-92629259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12642097	chr4:92629261-92629262	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs537829625	chr4:92629273-92629274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557508967	chr4:92629287-92629288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571316764	chr4:92629364-92629365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531612568	chr4:92629389-92629390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141954058	chr4:92629390-92629391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540379811	chr4:92635850-92635851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149290964	chr4:92635852-92635853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77015411	chr4:92635854-92635855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187558258	chr4:92635889-92635890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35583434	chr4:92635912-92635913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562824221	chr4:92635973-92635974	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531174885	chr4:92636004-92636005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550971983	chr4:92636005-92636006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527764779	chr4:92636009-92636010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143292831	chr4:92636052-92636053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527431634	chr4:92636065-92636066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs552584249	chr4:92636066-92636067	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547575645	chr4:92636068-92636069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114469325	chr4:92636069-92636070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374696922	chr4:92636095-92636096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192372373	chr4:92636150-92636151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35385171	chr4:92636188-92636189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556549545	chr4:92636194-92636195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111587647	chr4:92636198-92636199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78190795	chr4:92636209-92636210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554376453	chr4:92636217-92636218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182729650	chr4:92636218-92636219	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572565769	chr4:92636254-92636255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92628800-92629400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:92629000-92629400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:92653200-92653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:92659600-92662000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:92661800-92662200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:92661800-92662400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:92662000-92662400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:92662200-92662400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:92662400-92667800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:92666200-92666400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:92666400-92667600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:92667600-92667800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:92667800-92668200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:92668200-92668400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:92676400-92677400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:92677000-92678200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:92677400-92679200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:92677800-92680600	Enhancers	HUVEC	blood vessel
19	chr4:92678200-92679800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:92679000-92680200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:92679200-92680600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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