Variant report

Variant	nsv879678
Chromosome Location	chr4:102569730-102658991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:534)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:102610369-102610662	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:102651772-102651979	HepG2	liver:	n/a	n/a
3	BATF	chr4:102651652-102651967	GM12878	blood:	n/a	n/a
4	BATF	chr4:102614944-102615380	GM12878	blood:	n/a	chr4:102615272-102615282
5	BHLHE40	chr4:102645420-102645722	GM12878	blood:	n/a	n/a
6	CBX3	chr4:102651391-102652158	HCT-116	colon:	n/a	n/a
7	CBX3	chr4:102627818-102628253	HCT-116	colon:	n/a	n/a
8	CEBPB	chr4:102571006-102571206	A549	lung:	n/a	chr4:102571087-102571100
9	CEBPB	chr4:102648976-102649113	IMR90	lung:	n/a	n/a
10	CEBPB	chr4:102576344-102576346	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr4:102610428-102610763	HepG2	liver:	n/a	n/a
12	CEBPB	chr4:102629492-102629786	A549	lung:	n/a	chr4:102629648-102629659
13	CEBPB	chr4:102576096-102576481	HepG2	liver:	n/a	n/a
14	CEBPB	chr4:102570929-102571260	HepG2	liver:	n/a	chr4:102571087-102571100
15	CEBPB	chr4:102576129-102576412	IMR90	lung:	n/a	n/a
16	CEBPB	chr4:102629517-102629803	HepG2	liver:	n/a	chr4:102629648-102629659
17	CEBPB	chr4:102629462-102630154	Hela-S3	cervix:	n/a	chr4:102629648-102629659
18	CEBPB	chr4:102629491-102629817	IMR90	lung:	n/a	chr4:102629648-102629659
19	CEBPB	chr4:102570974-102571239	IMR90	lung:	n/a	chr4:102571087-102571100
20	CEBPB	chr4:102610473-102610662	HepG2	liver:	n/a	n/a
21	CHD1	chr4:102614990-102615174	GM12878	blood:	n/a	n/a
22	CHD2	chr4:102645300-102645668	GM12878	blood:	n/a	n/a
23	CTCF	chr4:102651780-102651930	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr4:102651768-102651904	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr4:102651736-102652000	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr4:102651658-102652046	A549	lung:	n/a	n/a
27	CTCF	chr4:102651735-102651947	GM12891	blood:	n/a	n/a
28	CTCF	chr4:102651820-102651970	BE2_C	brain:	n/a	n/a
29	CTCF	chr4:102651780-102651930	AG04450	lung:	n/a	n/a
30	CTCF	chr4:102651760-102651910	HepG2	liver:	n/a	n/a
31	CTCF	chr4:102651705-102651973	HepG2	liver:	n/a	n/a
32	CTCF	chr4:102651740-102651890	GM12870	blood:	n/a	n/a
33	CTCF	chr4:102651760-102651910	HVMF	connective:	n/a	n/a
34	CTCF	chr4:102651729-102651962	GM19240	blood:	n/a	n/a
35	CTCF	chr4:102651280-102651430	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr4:102651800-102651950	GM06990	blood:	n/a	n/a
37	CTCF	chr4:102651780-102651930	GM12872	blood:	n/a	n/a
38	CTCF	chr4:102651740-102651890	GM12874	blood:	n/a	n/a
39	CTCF	chr4:102621063-102621125	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr4:102651780-102651930	HMEC	breast:	n/a	n/a
41	CTCF	chr4:102651498-102652344	A549	lung:	n/a	n/a
42	CTCF	chr4:102651800-102651950	AG04449	skin:	n/a	n/a
43	CTCF	chr4:102651764-102651960	LNCaP	prostate:	n/a	n/a
44	CTCF	chr4:102651820-102651970	GM12864	blood:	n/a	n/a
45	CTCF	chr4:102651820-102651970	AG04450	lung:	n/a	n/a
46	CTCF	chr4:102654164-102654195	GM13976	blood:	n/a	n/a
47	CTCF	chr4:102651780-102651930	HAc	cerebellar:	n/a	n/a
48	CTCF	chr4:102651755-102651980	GM13976	blood:	n/a	n/a
49	CTCF	chr4:102651760-102651910	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr4:102651780-102651930	NHDF-neo	bronchial:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:102151616..102153523-chr4:102648348..102650655,2	MCF-7	breast:
2	chr4:102090091..102091062-chr4:102651393..102652212,3	MCF-7	breast:
3	chr4:102575240..102577315-chr4:102579878..102582255,2	K562	blood:
4	chr4:102090452..102090967-chr4:102651453..102652195,2	MCF-7	breast:
5	chr4:102575240..102577315-chr4:102579878..102582255,2	K562	blood:
6	chr4:102519275..102521968-chr4:102570862..102572539,2	K562	blood:

No data

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

Extended variants
information (count: 2475 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2475 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4362823	chr4:102569730-102569731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs542961909	chr4:102569735-102569736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139132931	chr4:102569745-102569746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149909249	chr4:102569746-102569747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534953554	chr4:102569776-102569777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564888055	chr4:102569791-102569792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186440529	chr4:102569793-102569794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145957297	chr4:102569828-102569829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139814240	chr4:102569925-102569926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530799121	chr4:102569948-102569949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549293993	chr4:102569962-102569963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573840801	chr4:102569975-102569976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544301307	chr4:102569979-102569980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563055805	chr4:102570070-102570071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192110345	chr4:102570076-102570077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534947198	chr4:102570083-102570084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553543553	chr4:102570092-102570093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533374248	chr4:102570169-102570170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74364425	chr4:102570329-102570330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538763476	chr4:102570385-102570386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557062807	chr4:102570431-102570432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10009721	chr4:102570449-102570450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs181792369	chr4:102570450-102570451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554606523	chr4:102570455-102570456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186912692	chr4:102570468-102570469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191332288	chr4:102570499-102570500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538037167	chr4:102570503-102570504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565110080	chr4:102570599-102570600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182602631	chr4:102570608-102570609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545132200	chr4:102570627-102570628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186504939	chr4:102570686-102570687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530861354	chr4:102570742-102570743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17250305	chr4:102570753-102570754	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs143212715	chr4:102570779-102570780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528787248	chr4:102570783-102570784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80101309	chr4:102570860-102570861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571829770	chr4:102570865-102570866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539223307	chr4:102570925-102570926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77727258	chr4:102570958-102570959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546876353	chr4:102570968-102570969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189728798	chr4:102570976-102570977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7675434	chr4:102570977-102570978	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572720662	chr4:102570987-102570988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540536550	chr4:102570988-102570989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558557990	chr4:102571022-102571023	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576654982	chr4:102571045-102571046	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544000157	chr4:102571058-102571059	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555371297	chr4:102571085-102571086	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146662712	chr4:102571094-102571095	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58670291	chr4:102571104-102571105	Flanking Active TSS Enhancers Weak transcription	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102567600-102571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:102568000-102570200	Enhancers	Esophagus	oesophagus
3	chr4:102568800-102570600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:102568800-102570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:102568800-102571200	Weak transcription	Adipose Nuclei	Adipose
6	chr4:102568800-102571200	Weak transcription	HSMMtube	muscle
7	chr4:102569000-102570600	Weak transcription	HMEC	breast
8	chr4:102569000-102570800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:102569000-102571400	Weak transcription	Fetal Heart	heart
10	chr4:102569200-102570200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:102569200-102570600	Weak transcription	NHEK	skin
12	chr4:102569600-102569800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:102569600-102569800	Enhancers	Right Ventricle	heart
14	chr4:102570000-102573000	Weak transcription	Right Ventricle	heart
15	chr4:102570200-102570400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:102570200-102570600	Weak transcription	Esophagus	oesophagus
17	chr4:102570400-102570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:102570600-102570800	Enhancers	Esophagus	oesophagus
19	chr4:102570600-102571000	Enhancers	NHEK	skin
20	chr4:102570600-102571600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:102570600-102571800	Enhancers	HMEC	breast
22	chr4:102570600-102572000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:102570600-102572000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:102570800-102571000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:102570800-102571800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:102570800-102572400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:102570800-102573000	Weak transcription	Esophagus	oesophagus
28	chr4:102571000-102571400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:102571000-102571400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:102571000-102571400	Enhancers	Fetal Muscle Leg	muscle
31	chr4:102571000-102571400	Flanking Active TSS	NHEK	skin
32	chr4:102571000-102571800	Enhancers	Fetal Stomach	stomach
33	chr4:102571200-102571600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:102571200-102571600	Enhancers	Adipose Nuclei	Adipose
35	chr4:102571200-102571600	Enhancers	Left Ventricle	heart
36	chr4:102571200-102571600	Enhancers	Psoas Muscle	Psoas
37	chr4:102571200-102571800	Enhancers	Brain Hippocampus Middle	brain
38	chr4:102571200-102571800	Enhancers	HSMMtube	muscle
39	chr4:102571200-102573600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr4:102571400-102571600	Enhancers	Fetal Heart	heart
41	chr4:102571400-102572200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:102571400-102572200	Enhancers	NHEK	skin
43	chr4:102571400-102572600	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:102571600-102572000	Weak transcription	Fetal Heart	heart
45	chr4:102571600-102572800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:102571600-102572800	Weak transcription	Left Ventricle	heart
47	chr4:102571600-102572800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:102571600-102573000	Weak transcription	Psoas Muscle	Psoas
49	chr4:102572000-102573000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:102572000-102574200	Enhancers	Fetal Heart	heart

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