Variant report

Variant	nsv966105
Chromosome Location	chr22:32586529-32590423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:32586964-32587058	LNCaP	prostate:	n/a	n/a
2	CTCF	chr22:32588683-32588707	Medullo	brain:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32590246-32590296	GM06990	blood:	n/a
2	chr22:32590246-32590296	HAEpiC	amniotic membrane:	n/a
3	chr22:32587214-32587264	A549	lung:	n/a
4	chr22:32587214-32587264	SK-N-SH_RA	brain:	n/a
5	chr22:32590246-32590296	AG09309	skin:	n/a
6	chr22:32587214-32587264	GM12891	blood:	n/a
7	chr22:32590246-32590296	H1-hESC	embryonic stem cell:	embryo
8	chr22:32587214-32587264	HCT-116	colon:	n/a
9	chr22:32587214-32587264	HRE	kidney:	n/a
10	chr22:32589919-32589969	GM12878	blood:	n/a
11	chr22:32587214-32587264	HNPCEpiC	eye:	n/a
12	chr22:32587214-32587264	HRCEpiC	kidney:	n/a
13	chr22:32590246-32590296	PFSK-1	brain:	n/a
14	chr22:32590246-32590296	MCF-7	breast:	n/a
15	chr22:32590246-32590296	HEEpiC	esophagus:	n/a
16	chr22:32590246-32590296	GM12878	blood:	n/a
17	chr22:32589380-32589430	T-47D	breast:	n/a
18	chr22:32589919-32589969	AG09319	gingival:	n/a
19	chr22:32589380-32589430	HepG2	liver:	n/a
20	chr22:32590246-32590296	AG09319	gingival:	n/a
21	chr22:32589919-32589969	GM12892	blood:	n/a
22	chr22:32589380-32589430	AG09309	skin:	n/a
23	chr22:32589380-32589430	NT2-D1	testis:	n/a
24	chr22:32590246-32590296	U87	brain:	n/a
25	chr22:32587214-32587264	AoSMC	blood vessel:	n/a
26	chr22:32589919-32589969	HCM	heart:	n/a
27	chr22:32587214-32587264	ECC-1	luminal epithelium:	n/a
28	chr22:32589380-32589430	GM06990	blood:	n/a
29	chr22:32590246-32590296	HRE	kidney:	n/a
30	chr22:32590246-32590296	HUVEC	blood vessel:	n/a
31	chr22:32590246-32590296	SK-N-MC	brain:	n/a
32	chr22:32589919-32589969	PANC-1	pancreas:	n/a
33	chr22:32589380-32589430	HAEpiC	amniotic membrane:	n/a
34	chr22:32589919-32589969	AG04450	lung:	fetal
35	chr22:32587214-32587264	Hepatocyte	liver:	n/a
36	chr22:32590246-32590296	GM19239	blood:	n/a
37	chr22:32587214-32587264	PrEC	prostate:	n/a
38	chr22:32590246-32590296	CMK	blood:	n/a
39	chr22:32589380-32589430	BJ	skin:	n/a
40	chr22:32587214-32587264	Caco-2	colon:	n/a
41	chr22:32590246-32590296	SK-N-SH	brain:	n/a
42	chr22:32590246-32590296	HNPCEpiC	eye:	n/a
43	chr22:32589380-32589430	HL-60	blood:	n/a
44	chr22:32589380-32589430	NHBE	bronchial:	n/a
45	chr22:32589380-32589430	SK-N-MC	brain:	n/a
46	chr22:32589919-32589969	HCPEpiC	choroid plexus:	n/a
47	chr22:32589380-32589430	HCT-116	colon:	n/a
48	chr22:32590246-32590296	HRCEpiC	kidney:	n/a
49	chr22:32589380-32589430	GM12892	blood:	n/a
50	chr22:32589380-32589430	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32586637..32588277-chr22:32602438..32604395,2	K562	blood:

No data

Variant related genes	Relation type
RFPL2	TF binding region
RFPL2	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3959628	chr22:32589401-32589402	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs3986033	chr22:32589417-32589418	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs5998291	chr22:32589418-32589419	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs3959629	chr22:32589427-32589428	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs142885030	chr22:32589428-32589429	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs550460986	chr22:32589919-32589920	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs150896775	chr22:32589920-32589921	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs373599139	chr22:32589926-32589927	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs187123961	chr22:32589937-32589938	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs537919198	chr22:32589967-32589968	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs546077462	chr22:32590264-32590265	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs375726944	chr22:32590267-32590268	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs559350616	chr22:32590279-32590280	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	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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