Variant report

Variant	nsv879680
Chromosome Location	chr4:102614169-102696219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:102695953-102696345	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:102651772-102651979	HepG2	liver:	n/a	n/a
3	BATF	chr4:102614944-102615380	GM12878	blood:	n/a	chr4:102615272-102615282
4	BATF	chr4:102651652-102651967	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:102645420-102645722	GM12878	blood:	n/a	n/a
6	BRCA1	chr4:102678590-102678637	GM12878	blood:	n/a	n/a
7	CBX3	chr4:102692873-102693335	HCT-116	colon:	n/a	n/a
8	CBX3	chr4:102651391-102652158	HCT-116	colon:	n/a	n/a
9	CBX3	chr4:102627818-102628253	HCT-116	colon:	n/a	n/a
10	CEBPB	chr4:102629462-102630154	Hela-S3	cervix:	n/a	chr4:102629648-102629659
11	CEBPB	chr4:102629492-102629786	A549	lung:	n/a	chr4:102629648-102629659
12	CEBPB	chr4:102629491-102629817	IMR90	lung:	n/a	chr4:102629648-102629659
13	CEBPB	chr4:102695948-102696306	HepG2	liver:	n/a	n/a
14	CEBPB	chr4:102674921-102675267	HepG2	liver:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
15	CEBPB	chr4:102674882-102675225	ECC-1	luminal epithelium:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
16	CEBPB	chr4:102695987-102696277	A549	lung:	n/a	n/a
17	CEBPB	chr4:102674904-102675265	A549	lung:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
18	CEBPB	chr4:102674992-102675170	K562	blood:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
19	CEBPB	chr4:102674951-102675224	H1-hESC	embryonic stem cell:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
20	CEBPB	chr4:102674911-102675268	IMR90	lung:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
21	CEBPB	chr4:102696034-102696245	IMR90	lung:	n/a	n/a
22	CEBPB	chr4:102674939-102675259	ECC-1	luminal epithelium:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
23	CEBPB	chr4:102674852-102675259	A549	lung:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
24	CEBPB	chr4:102674816-102675321	A549	lung:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
25	CEBPB	chr4:102674930-102675268	Hela-S3	cervix:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
26	CEBPB	chr4:102674889-102675265	MCF-7	breast:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
27	CEBPB	chr4:102695899-102696336	A549	lung:	n/a	n/a
28	CEBPB	chr4:102648976-102649113	IMR90	lung:	n/a	n/a
29	CEBPB	chr4:102674884-102675289	MCF-7	breast:	n/a	chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090 chr4:102675081-102675090
30	CEBPB	chr4:102629517-102629803	HepG2	liver:	n/a	chr4:102629648-102629659
31	CHD1	chr4:102614990-102615174	GM12878	blood:	n/a	n/a
32	CHD2	chr4:102645300-102645668	GM12878	blood:	n/a	n/a
33	CTCF	chr4:102651635-102652187	IMR90	lung:	n/a	n/a
34	CTCF	chr4:102651800-102651950	GM12866	blood:	n/a	n/a
35	CTCF	chr4:102651800-102651950	GM12874	blood:	n/a	n/a
36	CTCF	chr4:102651820-102651970	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr4:102651780-102651930	GM12864	blood:	n/a	n/a
38	CTCF	chr4:102651800-102651950	GM12875	blood:	n/a	n/a
39	CTCF	chr4:102651460-102651610	SAEC	small airway:	n/a	n/a
40	CTCF	chr4:102651800-102651950	AG09319	gingival:	n/a	n/a
41	CTCF	chr4:102651735-102651929	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr4:102651717-102652021	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr4:102651744-102651981	HepG2	liver:	n/a	n/a
44	CTCF	chr4:102651729-102651962	GM19240	blood:	n/a	n/a
45	CTCF	chr4:102651520-102651670	AG04450	lung:	n/a	n/a
46	CTCF	chr4:102651780-102651930	HepG2	liver:	n/a	n/a
47	CTCF	chr4:102651719-102651962	GM19238	blood:	n/a	n/a
48	CTCF	chr4:102651498-102652344	A549	lung:	n/a	n/a
49	CTCF	chr4:102651800-102651950	GM12873	blood:	n/a	n/a
50	CTCF	chr4:102651840-102651990	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:102151616..102153523-chr4:102648348..102650655,2	MCF-7	breast:
2	chr4:102679449..102682204-chr4:102682535..102685384,2	K562	blood:
3	chr4:102090091..102091062-chr4:102651393..102652212,3	MCF-7	breast:
4	chr4:102090452..102090967-chr4:102651453..102652195,2	MCF-7	breast:
5	chr1:116314786..116315654-chr4:102694925..102695632,2	MCF-7	breast:
6	chr4:102679449..102682204-chr4:102682535..102685384,2	K562	blood:
7	chr4:102668209..102669910-chr4:102674187..102676043,2	MCF-7	breast:
8	chr4:102668209..102669910-chr4:102674187..102676043,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-462P	TF binding region

Extended variants
information (count: 1725 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1725 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7669524	chr4:102614169-102614170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185923983	chr4:102614179-102614180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551592039	chr4:102614206-102614207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72684846	chr4:102614310-102614311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115602360	chr4:102614374-102614375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556246210	chr4:102614417-102614418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7674178	chr4:102614437-102614438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535477894	chr4:102614458-102614459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372700166	chr4:102614529-102614530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572731351	chr4:102614634-102614635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190641897	chr4:102614656-102614657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528212944	chr4:102614771-102614772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151093599	chr4:102614813-102614814	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs368144513	chr4:102614823-102614824	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543993494	chr4:102614824-102614825	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567497585	chr4:102614859-102614860	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs141020935	chr4:102614867-102614868	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528972641	chr4:102614874-102614875	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs541057608	chr4:102614897-102614898	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs538146704	chr4:102614898-102614899	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs150219403	chr4:102614919-102614920	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs551388143	chr4:102614923-102614924	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575257563	chr4:102615048-102615049	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139187694	chr4:102615050-102615051	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs17251415	chr4:102615073-102615074	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548740146	chr4:102615076-102615077	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553241311	chr4:102615109-102615110	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557863663	chr4:102615133-102615134	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs35556034	chr4:102615162-102615163	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540514874	chr4:102615173-102615174	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs141637527	chr4:102615176-102615177	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs147044985	chr4:102615220-102615221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs565938175	chr4:102615223-102615224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7676312	chr4:102615246-102615247	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138271648	chr4:102615321-102615322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576776333	chr4:102615330-102615331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537666014	chr4:102615364-102615365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs371661805	chr4:102615386-102615387	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs115881614	chr4:102615396-102615397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs375293585	chr4:102615500-102615501	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80136599	chr4:102615602-102615603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369355998	chr4:102615641-102615642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs80061841	chr4:102615747-102615748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113281377	chr4:102615760-102615761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544901966	chr4:102615782-102615783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183191352	chr4:102615809-102615810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149540969	chr4:102615819-102615820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187938876	chr4:102615839-102615840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547579092	chr4:102615844-102615845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544241223	chr4:102615850-102615851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Pancreatic cancer	17952125	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102611400-102614800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:102614000-102616600	Enhancers	NHEK	skin
3	chr4:102614000-102618800	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:102614400-102614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:102614600-102615200	Enhancers	Primary B cells from cord blood	blood
6	chr4:102614600-102616600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:102614800-102615000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:102614800-102615400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:102614800-102615400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:102614800-102615400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:102614800-102615400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:102614800-102615400	Enhancers	A549	lung
13	chr4:102614800-102615400	Flanking Active TSS	GM12878-XiMat	blood
14	chr4:102614800-102615400	Enhancers	HMEC	breast
15	chr4:102615000-102615800	Enhancers	Hela-S3	cervix
16	chr4:102615000-102616200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:102615200-102615600	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr4:102615200-102617400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:102615400-102616000	Enhancers	GM12878-XiMat	blood
20	chr4:102615400-102616400	Weak transcription	HMEC	breast
21	chr4:102615400-102628400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:102615600-102616600	Enhancers	Primary B cells from cord blood	blood
23	chr4:102616000-102616600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:102616400-102616600	Enhancers	HMEC	breast
25	chr4:102616600-102617800	Weak transcription	Primary B cells from cord blood	blood
26	chr4:102617400-102618600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:102617800-102618200	Enhancers	Primary B cells from cord blood	blood
28	chr4:102618200-102618400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:102618200-102620000	Weak transcription	Primary B cells from cord blood	blood
30	chr4:102618400-102623000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:102618600-102622600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:102618800-102620000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr4:102620000-102620400	Enhancers	Primary B cells from cord blood	blood
34	chr4:102620000-102620600	Enhancers	Primary B cells from peripheral blood	blood
35	chr4:102620200-102620400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:102620200-102621000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr4:102620400-102620800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr4:102620400-102621200	Enhancers	Primary hematopoietic stem cells	blood
39	chr4:102620600-102621200	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr4:102620800-102621000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:102620800-102621200	Active TSS	Primary B cells from cord blood	blood
42	chr4:102621200-102621400	Enhancers	Primary B cells from peripheral blood	blood
43	chr4:102621200-102621800	Enhancers	Primary B cells from cord blood	blood
44	chr4:102622000-102623800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:102622000-102624000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:102622200-102622600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:102622200-102624000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:102622600-102623200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:102623000-102623600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:102628800-102631000	Enhancers	Hela-S3	cervix

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