Variant report

Variant	esv3494749
Chromosome Location	chr5:16124102-16126500
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	CEBPB	chr5:16124051-16124228	HepG2	liver:	n/a	chr5:16124110-16124121
2	CEBPB	chr5:16124683-16124734	HepG2	liver:	n/a	chr5:16124714-16124725
3	GATA3	chr5:16124626-16125107	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr5:16125040-16125389	H1-neurons	neurons:	n/a	n/a
5	SPI1	chr5:16124145-16124577	HL-60	blood:	n/a	chr5:16124336-16124345 chr5:16124334-16124347 chr5:16124333-16124346
6	STAT3	chr5:16126115-16126436	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000250981	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73044655	chr5:16124106-16124107	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140875104	chr5:16124154-16124155	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576997418	chr5:16124198-16124199	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116412123	chr5:16124222-16124223	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562684953	chr5:16124363-16124364	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529988865	chr5:16124414-16124415	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs541434863	chr5:16124454-16124455	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs559672556	chr5:16124493-16124494	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs527405667	chr5:16124513-16124514	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs374961477	chr5:16124523-16124524	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs570507359	chr5:16124550-16124551	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532643389	chr5:16124553-16124554	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs150157953	chr5:16124556-16124557	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs569462488	chr5:16124607-16124608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184189095	chr5:16124623-16124624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559186333	chr5:16124684-16124685	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs138646013	chr5:16124686-16124687	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs534167962	chr5:16124696-16124697	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs7722594	chr5:16124766-16124767	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558809240	chr5:16124780-16124781	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs577262727	chr5:16124783-16124784	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs149286832	chr5:16124797-16124798	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs565869313	chr5:16124810-16124811	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556282464	chr5:16124814-16124815	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs574393765	chr5:16124815-16124816	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs145496702	chr5:16124816-16124817	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs559731829	chr5:16124821-16124822	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs188691588	chr5:16124830-16124831	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369114632	chr5:16124837-16124838	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7722777	chr5:16124855-16124856	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs191468282	chr5:16124897-16124898	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs78639956	chr5:16124946-16124947	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs142483951	chr5:16124992-16124993	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs145934655	chr5:16125010-16125011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs7723411	chr5:16125026-16125027	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs7723420	chr5:16125045-16125046	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs7722990	chr5:16125047-16125048	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs530435226	chr5:16125055-16125056	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs7705587	chr5:16125067-16125068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs548935574	chr5:16125127-16125128	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs7705625	chr5:16125142-16125143	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs148602085	chr5:16125163-16125164	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs182173377	chr5:16125182-16125183	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs534230455	chr5:16125186-16125187	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552532303	chr5:16125187-16125188	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs111993833	chr5:16125223-16125224	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs115418558	chr5:16125230-16125231	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs141160679	chr5:16125247-16125248	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs72738271	chr5:16125321-16125322	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568648682	chr5:16125339-16125340	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16123400-16124800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:16123400-16125400	Weak transcription	Fetal Heart	heart
3	chr5:16124800-16127600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:16125400-16128200	Enhancers	Fetal Heart	heart
5	chr5:16125600-16125800	Enhancers	Left Ventricle	heart
6	chr5:16125800-16127800	Weak transcription	Left Ventricle	heart

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