Variant report

Variant	nsv975340
Chromosome Location	chr11:55605302-55614251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:55612110-55612114	K562	blood:	n/a	n/a
2	CTCF	chr11:55606986-55607042	ProgFib	skin:	n/a	n/a
3	IRF3	chr11:55606337-55606448	GM12878	blood:	n/a	n/a
4	JUND	chr11:55612076-55612252	HepG2	liver:	n/a	n/a
5	MAFF	chr11:55612093-55612293	HepG2	liver:	n/a	chr11:55612213-55612231
6	MAFK	chr11:55612075-55612352	HepG2	liver:	n/a	chr11:55612214-55612229
7	MAFK	chr11:55612071-55612372	HepG2	liver:	n/a	chr11:55612214-55612229
8	MAZ	chr11:55609580-55609597	HepG2	liver:	n/a	n/a
9	MXI1	chr11:55611491-55611664	K562	blood:	n/a	n/a
10	MYC	chr11:55606900-55606954	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:55606937-55607026	A549	lung:	n/a	n/a
12	POLR2A	chr11:55612498-55612698	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:55608668-55608876	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr11:55607274-55607456	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55606710-55606760	BJ	skin:	n/a
2	chr11:55606216-55606266	BJ	skin:	n/a
3	chr11:55606216-55606266	Caco-2	colon:	n/a
4	chr11:55606216-55606266	HRPEpiC	eye:	n/a
5	chr11:55606216-55606266	HMEC	breast:	n/a
6	chr11:55606216-55606266	MCF-7	breast:	n/a
7	chr11:55606216-55606266	PrEC	prostate:	n/a
8	chr11:55606216-55606266	T-47D	breast:	n/a
9	chr11:55606216-55606266	HEEpiC	esophagus:	n/a
10	chr11:55606710-55606760	Jurkat	blood:	n/a
11	chr11:55606216-55606266	HAEpiC	amniotic membrane:	n/a
12	chr11:55606710-55606760	HCF	heart:	n/a
13	chr11:55606216-55606266	HRE	kidney:	n/a
14	chr11:55606216-55606266	HEK293	kidney:	embryo
15	chr11:55606216-55606266	NT2-D1	testis:	n/a
16	chr11:55606710-55606760	SK-N-SH	brain:	n/a
17	chr11:55606216-55606266	SK-N-SH_RA	brain:	n/a
18	chr11:55606216-55606266	BE2_C	brain:	n/a
19	chr11:55606216-55606266	HPAEpiC	pulmonary alveolar:	n/a
20	chr11:55606216-55606266	ECC-1	luminal epithelium:	n/a
21	chr11:55606216-55606266	Jurkat	blood:	n/a
22	chr11:55606710-55606760	PrEC	prostate:	n/a
23	chr11:55606710-55606760	HRPEpiC	eye:	n/a
24	chr11:55606216-55606266	NB4	blood:	n/a
25	chr11:55606710-55606760	SAEC	small airway:	n/a
26	chr11:55606216-55606266	PFSK-1	brain:	n/a
27	chr11:55606710-55606760	NB4	blood:	n/a
28	chr11:55606216-55606266	HCT-116	colon:	n/a
29	chr11:55606710-55606760	MCF-7	breast:	n/a
30	chr11:55606216-55606266	HNPCEpiC	eye:	n/a
31	chr11:55606216-55606266	HL-60	blood:	n/a
32	chr11:55606710-55606760	NHDF-neo	bronchial:	n/a
33	chr11:55606710-55606760	HepG2	liver:	n/a
34	chr11:55606216-55606266	HRCEpiC	kidney:	n/a
35	chr11:55606216-55606266	NHDF-neo	bronchial:	n/a
36	chr11:55606710-55606760	H1-hESC	embryonic stem cell:	embryo
37	chr11:55606216-55606266	HepG2	liver:	n/a
38	chr11:55606216-55606266	SKMC	muscle:	n/a
39	chr11:55606710-55606760	NH-A	brain:	n/a
40	chr11:55606710-55606760	HCM	heart:	n/a
41	chr11:55606216-55606266	Hepatocyte	liver:	n/a
42	chr11:55606710-55606760	GM06990	blood:	n/a
43	chr11:55606216-55606266	LNCaP	prostate:	n/a
44	chr11:55606710-55606760	HL-60	blood:	n/a
45	chr11:55606216-55606266	HCM	heart:	n/a
46	chr11:55606710-55606760	SKMC	muscle:	n/a
47	chr11:55606710-55606760	AG04449	skin:	fetal
48	chr11:55606216-55606266	AG04449	skin:	fetal
49	chr11:55606710-55606760	GM12892	blood:	n/a
50	chr11:55606710-55606760	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
OR5D16	TF binding region
OR5D16	CpG island

Extended variants
information (count: 0)
Associated
traits (count: 45 )

No data

Variant related diseases (count:45)

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
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
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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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