Variant report

Variant	nsv824252
Chromosome Location	chr7:109296925-109297683
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	MAFF	chr7:109297364-109297440	K562	blood:	n/a	chr7:109297403-109297421
2	MAFF	chr7:109297276-109297491	HepG2	liver:	n/a	chr7:109297403-109297421
3	MAFK	chr7:109297242-109297538	HepG2	liver:	n/a	chr7:109297407-109297421 chr7:109297409-109297420 chr7:109297409-109297420

Variant related genes	Relation type
ENSG00000230192	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562972355	chr7:109296935-109296936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532051221	chr7:109296938-109296939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368744515	chr7:109296958-109296959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565294453	chr7:109296964-109296965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13247622	chr7:109297035-109297036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547721007	chr7:109297065-109297066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567938251	chr7:109297066-109297067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575408454	chr7:109297148-109297149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368447500	chr7:109297199-109297200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61589124	chr7:109297218-109297219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202134585	chr7:109297219-109297220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530450026	chr7:109297240-109297241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117656190	chr7:109297307-109297308	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs372549058	chr7:109297314-109297315	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs188385705	chr7:109297415-109297416	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs35359919	chr7:109297430-109297431	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs386410984	chr7:109297431-109297432	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs386410985	chr7:109297432-109297433	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs397759585	chr7:109297433-109297434	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs13243070	chr7:109297434-109297435	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs375202221	chr7:109297502-109297503	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs193245058	chr7:109297541-109297542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73432610	chr7:109297601-109297602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs151327488	chr7:109297602-109297603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs820939	chr7:109297612-109297613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs375405658	chr7:109297622-109297623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534810169	chr7:109297631-109297632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554504531	chr7:109297642-109297643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13230647	chr7:109297658-109297659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184043467	chr7:109297660-109297661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199607599	chr7:109297664-109297665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202154818	chr7:109297672-109297673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71141677	chr7:109297673-109297674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10263819	chr7:109297674-109297675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556505625	chr7:109297676-109297677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109278800-109300600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:109296400-109297000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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