Variant report

Variant	nsv967966
Chromosome Location	chr4:100132047-100138970
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	GTF2F1	chr4:100134746-100134766	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr4:100138453-100138731	HepG2	liver:	n/a	n/a
3	HEY1	chr4:100138894-100139152	HepG2	liver:	n/a	n/a
4	HNF4A	chr4:100132002-100132247	HepG2	liver:	n/a	chr4:100132130-100132144
5	MAFF	chr4:100135989-100136289	HepG2	liver:	n/a	chr4:100136145-100136163
6	MAFK	chr4:100132427-100132499	HepG2	liver:	n/a	n/a
7	MAFK	chr4:100135973-100136308	HepG2	liver:	n/a	chr4:100136117-100136132 chr4:100136117-100136128
8	MAFK	chr4:100135987-100136292	HepG2	liver:	n/a	chr4:100136117-100136132 chr4:100136117-100136128
9	MAFK	chr4:100135999-100136194	IMR90	lung:	n/a	chr4:100136117-100136132 chr4:100136117-100136128
10	MYC	chr4:100137039-100137053	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr4:100138492-100138511	HepG2	liver:	n/a	n/a
12	POLR2A	chr4:100134716-100134866	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:100136500-100136786	HepG2	liver:	n/a	n/a
14	POLR2A	chr4:100136608-100136920	HepG2	liver:	n/a	n/a
15	POLR2A	chr4:100136596-100137164	K562	blood:	n/a	n/a
16	POLR2A	chr4:100138512-100138815	HepG2	liver:	n/a	n/a
17	POLR2A	chr4:100138422-100139168	HepG2	liver:	n/a	n/a
18	POLR2A	chr4:100137813-100138358	HepG2	liver:	n/a	n/a
19	POLR2A	chr4:100137730-100137966	K562	blood:	n/a	n/a
20	POLR2A	chr4:100136167-100136280	HepG2	liver:	n/a	n/a
21	POLR2A	chr4:100135193-100135404	HepG2	liver:	n/a	n/a
22	POLR2A	chr4:100135904-100136079	K562	blood:	n/a	n/a
23	POLR2A	chr4:100134348-100134358	HepG2	liver:	n/a	n/a
24	POLR2A	chr4:100134960-100134984	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:100134714-100135337	HepG2	liver:	n/a	n/a
26	POLR2A	chr4:100135960-100136467	HepG2	liver:	n/a	n/a
27	POLR2A	chr4:100132707-100132748	HepG2	liver:	n/a	n/a
28	POLR2A	chr4:100132677-100132682	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:100135943-100135947	HepG2	liver:	n/a	n/a
30	STAT3	chr4:100135014-100135191	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADH1A-1	chr4:100136952-100137419	NONHSAT097527

Variant related genes	Relation type
ADH6	TF binding region

Extended variants
information (count: 242 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550376149	chr4:100132118-100132119	Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs562158973	chr4:100132245-100132246	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs371362629	chr4:100132299-100132300	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145551679	chr4:100132302-100132303	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529450414	chr4:100132322-100132323	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547774051	chr4:100132341-100132342	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566083131	chr4:100132366-100132367	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17028735	chr4:100132432-100132433	Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186285448	chr4:100132433-100132434	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs548116843	chr4:100132452-100132453	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561479375	chr4:100132453-100132454	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566327928	chr4:100132499-100132500	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs75631625	chr4:100132537-100132538	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189818160	chr4:100132619-100132620	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182808324	chr4:100132627-100132628	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535176573	chr4:100132664-100132665	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563935288	chr4:100132667-100132668	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185628227	chr4:100132735-100132736	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs553321411	chr4:100132755-100132756	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571723225	chr4:100132781-100132782	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28720150	chr4:100132790-100132791	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115834601	chr4:100132875-100132876	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs201830522	chr4:100132882-100132883	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576719513	chr4:100132925-100132926	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs190724260	chr4:100132930-100132931	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113978666	chr4:100132971-100132972	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs28891987	chr4:100132996-100132997	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs541561110	chr4:100133031-100133032	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183538618	chr4:100133080-100133081	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116227156	chr4:100133123-100133124	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374160784	chr4:100133147-100133148	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28720149	chr4:100133181-100133182	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188819507	chr4:100133272-100133273	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531641380	chr4:100133374-100133375	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549516163	chr4:100133388-100133389	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34587044	chr4:100133398-100133399	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567933431	chr4:100133404-100133405	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534845783	chr4:100133422-100133423	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377362591	chr4:100133426-100133427	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28720148	chr4:100133470-100133471	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565796384	chr4:100133471-100133472	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539059231	chr4:100133518-100133519	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557774277	chr4:100133603-100133604	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140459553	chr4:100133604-100133605	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377184779	chr4:100133724-100133725	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577178513	chr4:100133741-100133742	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541021572	chr4:100133771-100133772	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28891986	chr4:100133794-100133795	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150371506	chr4:100133798-100133799	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28891985	chr4:100133820-100133821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Autism	18414403	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
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
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100108400-100141600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:100127000-100139000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:100127000-100139400	Weak transcription	Ovary	ovary
4	chr4:100127000-100140200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:100127000-100142600	Weak transcription	Small Intestine	intestine
6	chr4:100127400-100139000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:100127600-100138800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:100129000-100143200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:100129400-100133800	Genic enhancers	Liver	Liver
10	chr4:100130200-100134600	Weak transcription	Pancreas	Pancrea
11	chr4:100130600-100132200	Enhancers	HSMMtube	muscle
12	chr4:100131000-100132800	Weak transcription	Fetal Lung	lung
13	chr4:100131400-100132600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:100131400-100134800	Weak transcription	Aorta	Aorta
15	chr4:100131400-100143000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:100132000-100133200	Genic enhancers	HepG2	liver
17	chr4:100132600-100133200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:100132800-100133000	ZNF genes & repeats	Fetal Lung	lung
19	chr4:100133000-100140600	Weak transcription	Fetal Lung	lung
20	chr4:100133200-100134600	Weak transcription	HepG2	liver
21	chr4:100133200-100135600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:100133800-100134600	Weak transcription	Liver	Liver
23	chr4:100134600-100137000	Strong transcription	HepG2	liver
24	chr4:100134600-100137600	Genic enhancers	Liver	Liver
25	chr4:100134800-100135000	ZNF genes & repeats	Aorta	Aorta
26	chr4:100137000-100138600	Weak transcription	HepG2	liver
27	chr4:100137400-100137600	Enhancers	Fetal Muscle Leg	muscle
28	chr4:100137600-100138000	Enhancers	Liver	Liver
29	chr4:100138000-100138200	Flanking Active TSS	Liver	Liver
30	chr4:100138200-100138400	Enhancers	Liver	Liver
31	chr4:100138400-100138600	Flanking Active TSS	Liver	Liver
32	chr4:100138600-100138800	Enhancers	HepG2	liver
33	chr4:100138600-100140800	Active TSS	Liver	Liver
34	chr4:100138800-100139200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr4:100138800-100139600	Flanking Active TSS	HepG2	liver

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