Variant report

Variant	nsv982947
Chromosome Location	chr11:55320372-55321812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
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	JUND	chr11:55320480-55320674	HepG2	liver:	n/a	chr11:55320597-55320609 chr11:55320599-55320607 chr11:55320599-55320606 chr11:55320598-55320608 chr11:55320598-55320607 chr11:55320597-55320608
2	NFYA	chr11:55320696-55320879	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55321480-55321530	MCF10A-Er-Src	breast:	n/a
2	chr11:55321480-55321530	HEEpiC	esophagus:	n/a
3	chr11:55321480-55321530	IMR90	lung:	fetal
4	chr11:55321480-55321530	NB4	blood:	n/a
5	chr11:55321480-55321530	T-47D	breast:	n/a
6	chr11:55321480-55321530	HIPEpiC	eye:	n/a
7	chr11:55321480-55321530	BE2_C	brain:	n/a
8	chr11:55321480-55321530	AG09309	skin:	n/a
9	chr11:55321480-55321530	PANC-1	pancreas:	n/a
10	chr11:55321480-55321530	AG04450	lung:	fetal
11	chr11:55321480-55321530	RPTEC	kidney:	n/a
12	chr11:55321480-55321530	GM12878	blood:	n/a
13	chr11:55321480-55321530	HAEpiC	amniotic membrane:	n/a
14	chr11:55321480-55321530	HCT-116	colon:	n/a
15	chr11:55321480-55321530	GM06990	blood:	n/a
16	chr11:55321480-55321530	Hepatocyte	liver:	n/a
17	chr11:55321480-55321530	Jurkat	blood:	n/a
18	chr11:55321480-55321530	SAEC	small airway:	n/a
19	chr11:55321480-55321530	A549	lung:	n/a
20	chr11:55321480-55321530	AoSMC	blood vessel:	n/a
21	chr11:55321480-55321530	NHBE	bronchial:	n/a
22	chr11:55321480-55321530	GM12891	blood:	n/a
23	chr11:55321480-55321530	ProgFib	skin:	n/a
24	chr11:55321480-55321530	PrEC	prostate:	n/a
25	chr11:55321480-55321530	BJ	skin:	n/a
26	chr11:55321480-55321530	SK-N-SH_RA	brain:	n/a
27	chr11:55321480-55321530	LNCaP	prostate:	n/a
28	chr11:55321480-55321530	HRPEpiC	eye:	n/a
29	chr11:55321480-55321530	Caco-2	colon:	n/a
30	chr11:55321480-55321530	NHDF-neo	bronchial:	n/a
31	chr11:55321480-55321530	HL-60	blood:	n/a
32	chr11:55321480-55321530	HCPEpiC	choroid plexus:	n/a
33	chr11:55321480-55321530	AG04449	skin:	fetal
34	chr11:55321480-55321530	U87	brain:	n/a
35	chr11:55321480-55321530	SKMC	muscle:	n/a
36	chr11:55321480-55321530	NT2-D1	testis:	n/a
37	chr11:55321480-55321530	HRE	kidney:	n/a
38	chr11:55321480-55321530	HRCEpiC	kidney:	n/a
39	chr11:55321480-55321530	GM19239	blood:	n/a
40	chr11:55321480-55321530	MCF-7	breast:	n/a
41	chr11:55321480-55321530	NH-A	brain:	n/a
42	chr11:55321480-55321530	HEK293	kidney:	embryo
43	chr11:55321480-55321530	Hela-S3	cervix:	n/a
44	chr11:55321480-55321530	PFSK-1	brain:	n/a
45	chr11:55321480-55321530	HCM	heart:	n/a
46	chr11:55321480-55321530	AG09319	gingival:	n/a
47	chr11:55321480-55321530	HMEC	breast:	n/a
48	chr11:55321480-55321530	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:55321480-55321530	ovcar-3	ovarian:	n/a
50	chr11:55321480-55321530	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
OR4C15	TF binding region
OR4C15	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17581414	chr11:55320482-55320483	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372987709	chr11:55320494-55320495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs3972677	chr11:55320510-55320511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs35175662	chr11:55320511-55320512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs538953	chr11:55320564-55320565	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs505338	chr11:55320583-55320584	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs545811337	chr11:55320606-55320607	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs528568472	chr11:55320729-55320730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs539857146	chr11:55320735-55320736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs191366493	chr11:55320763-55320764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs61919566	chr11:55320765-55320766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs559275093	chr11:55320800-55320801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs148608060	chr11:55320823-55320824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs548155983	chr11:55320824-55320825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs55972122	chr11:55320834-55320835	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558066557	chr11:55321480-55321481	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs572871550	chr11:55321483-55321484	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs492480	chr11:55321513-55321514	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	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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