Variant report

Variant	nsv967073
Chromosome Location	chr3:138725282-138734402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:185)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:138733456-138733521	GM13976	blood:	n/a	n/a
2	MYC	chr3:138725304-138725454	MCF-7	breast:	n/a	n/a
3	POLR2A	chr3:138725337-138725450	MCF-7	breast:	n/a	n/a
4	POLR2A	chr3:138733075-138733154	MCF-7	breast:	n/a	n/a
5	POLR2A	chr3:138725367-138725476	MCF-7	breast:	n/a	n/a
6	POLR2A	chr3:138730992-138731033	MCF10A-Er-Src	breast:	n/a	n/a
7	SETDB1	chr3:138730596-138730987	U2OS	brain:	n/a	n/a
8	USF1	chr3:138725216-138725470	H1-hESC	embryonic stem cell:	n/a	n/a

(count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138725311-138725361	NHDF-neo	bronchial:	n/a
2	chr3:138725335-138725385	Hepatocyte	liver:	n/a
3	chr3:138725311-138725361	NHDF-neo	bronchial:	n/a
4	chr3:138725335-138725385	Hepatocyte	liver:	n/a
5	chr3:138725335-138725385	NB4	blood:	n/a
6	chr3:138725335-138725385	NHBE	bronchial:	n/a
7	chr3:138725425-138725475	HIPEpiC	eye:	n/a
8	chr3:138725425-138725475	HMEC	breast:	n/a
9	chr3:138725311-138725361	AG10803	skin:	n/a
10	chr3:138725335-138725385	GM12892	blood:	n/a
11	chr3:138725311-138725361	BJ	skin:	n/a
12	chr3:138725335-138725385	SK-N-SH_RA	brain:	n/a
13	chr3:138725311-138725361	HCF	heart:	n/a
14	chr3:138725335-138725385	BJ	skin:	n/a
15	chr3:138725335-138725385	HAEpiC	amniotic membrane:	n/a
16	chr3:138725425-138725475	ProgFib	skin:	n/a
17	chr3:138725311-138725361	PANC-1	pancreas:	n/a
18	chr3:138725425-138725475	HEEpiC	esophagus:	n/a
19	chr3:138725335-138725385	SKMC	muscle:	n/a
20	chr3:138725425-138725475	T-47D	breast:	n/a
21	chr3:138725311-138725361	K562	blood:	n/a
22	chr3:138725311-138725361	ovcar-3	ovarian:	n/a
23	chr3:138725335-138725385	SK-N-MC	brain:	n/a
24	chr3:138725425-138725475	HEK293	kidney:	embryo
25	chr3:138725425-138725475	NT2-D1	testis:	n/a
26	chr3:138725425-138725475	Hepatocyte	liver:	n/a
27	chr3:138725425-138725475	GM12892	blood:	n/a
28	chr3:138725335-138725385	Caco-2	colon:	n/a
29	chr3:138725425-138725475	HAEpiC	amniotic membrane:	n/a
30	chr3:138725335-138725385	HPAEpiC	pulmonary alveolar:	n/a
31	chr3:138725335-138725385	RPTEC	kidney:	n/a
32	chr3:138725335-138725385	HCF	heart:	n/a
33	chr3:138725311-138725361	ProgFib	skin:	n/a
34	chr3:138725311-138725361	NB4	blood:	n/a
35	chr3:138725311-138725361	AG09319	gingival:	n/a
36	chr3:138725311-138725361	GM12892	blood:	n/a
37	chr3:138725425-138725475	MCF-7	breast:	n/a
38	chr3:138725311-138725361	HRE	kidney:	n/a
39	chr3:138725425-138725475	HRPEpiC	eye:	n/a
40	chr3:138725425-138725475	LNCaP	prostate:	n/a
41	chr3:138725335-138725385	HMEC	breast:	n/a
42	chr3:138725335-138725385	T-47D	breast:	n/a
43	chr3:138725425-138725475	SK-N-SH	brain:	n/a
44	chr3:138725425-138725475	AG10803	skin:	n/a
45	chr3:138725311-138725361	SKMC	muscle:	n/a
46	chr3:138725335-138725385	HRPEpiC	eye:	n/a
47	chr3:138725311-138725361	Hepatocyte	liver:	n/a
48	chr3:138725425-138725475	SKMC	muscle:	n/a
49	chr3:138725425-138725475	HL-60	blood:	n/a
50	chr3:138725425-138725475	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138732891..138734546-chr3:138735969..138738405,2	K562	blood:

No data

Variant related genes	Relation type
PRR23A	TF binding region
PRR23A	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554812317	chr3:138725288-138725289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs377362811	chr3:138725317-138725318	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs537006241	chr3:138725327-138725328	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs557102017	chr3:138725365-138725366	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs577003333	chr3:138725370-138725371	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs545666779	chr3:138725389-138725390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs534206921	chr3:138725392-138725393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs565459660	chr3:138725416-138725417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs547326664	chr3:138725446-138725447	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs572735247	chr3:138725453-138725454	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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