Variant report

Variant	nsv963357
Chromosome Location	chr3:121305043-121305543
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	POLR2A	chr3:121304947-121305500	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000238670	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144775023	chr3:121305055-121305056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144237895	chr3:121305061-121305062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148714358	chr3:121305062-121305063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201079029	chr3:121305063-121305064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144768421	chr3:121305065-121305066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs267599565	chr3:121305072-121305073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200387142	chr3:121305080-121305081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61750878	chr3:121305086-121305087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554335256	chr3:121305099-121305100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139699736	chr3:121305144-121305145	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs112431334	chr3:121305146-121305147	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145252171	chr3:121305147-121305148	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574610430	chr3:121305196-121305197	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs138917850	chr3:121305225-121305226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs540135129	chr3:121305227-121305228	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs192920748	chr3:121305335-121305336	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs79657977	chr3:121305362-121305363	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs199782325	chr3:121305371-121305372	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373740963	chr3:121305376-121305377	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576722757	chr3:121305416-121305417	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs148566270	chr3:121305424-121305425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs199657126	chr3:121305426-121305427	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531424959	chr3:121305448-121305449	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs541978803	chr3:121305449-121305450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562116526	chr3:121305540-121305541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121293600-121311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:121303800-121310400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:121304000-121309000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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