Variant report

Variant	esv3384580
Chromosome Location	chr11:55943876-55947974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:55945388-55945393	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:55944397-55944716	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr11:55946089-55946262	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT1	chr11:55944962-55945054	GM12878	blood:	n/a	n/a
5	STAT3	chr11:55945539-55945546	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55944198-55944248	HCF	heart:	n/a
2	chr11:55944198-55944248	HL-60	blood:	n/a
3	chr11:55944198-55944248	NB4	blood:	n/a
4	chr11:55944198-55944248	HCM	heart:	n/a
5	chr11:55944198-55944248	HAEpiC	amniotic membrane:	n/a
6	chr11:55944198-55944248	NT2-D1	testis:	n/a
7	chr11:55944198-55944248	HMEC	breast:	n/a
8	chr11:55944198-55944248	PANC-1	pancreas:	n/a
9	chr11:55944198-55944248	PFSK-1	brain:	n/a
10	chr11:55944198-55944248	GM19239	blood:	n/a
11	chr11:55944198-55944248	Jurkat	blood:	n/a
12	chr11:55944198-55944248	HEK293	kidney:	embryo
13	chr11:55944198-55944248	AoSMC	blood vessel:	n/a
14	chr11:55944198-55944248	SAEC	small airway:	n/a
15	chr11:55944198-55944248	CMK	blood:	n/a
16	chr11:55944198-55944248	HCPEpiC	choroid plexus:	n/a
17	chr11:55944198-55944248	H1-hESC	embryonic stem cell:	embryo
18	chr11:55944198-55944248	MCF-7	breast:	n/a
19	chr11:55944198-55944248	AG04449	skin:	fetal
20	chr11:55944198-55944248	AG04450	lung:	fetal
21	chr11:55944198-55944248	NH-A	brain:	n/a
22	chr11:55944198-55944248	T-47D	breast:	n/a
23	chr11:55944198-55944248	HRCEpiC	kidney:	n/a
24	chr11:55944198-55944248	HCT-116	colon:	n/a
25	chr11:55944198-55944248	GM12892	blood:	n/a
26	chr11:55944198-55944248	ECC-1	luminal epithelium:	n/a
27	chr11:55944198-55944248	SK-N-MC	brain:	n/a
28	chr11:55944198-55944248	MCF10A-Er-Src	breast:	n/a
29	chr11:55944198-55944248	HRPEpiC	eye:	n/a
30	chr11:55944198-55944248	IMR90	lung:	fetal
31	chr11:55944198-55944248	BJ	skin:	n/a
32	chr11:55944198-55944248	AG09319	gingival:	n/a
33	chr11:55944198-55944248	A549	lung:	n/a
34	chr11:55944198-55944248	PrEC	prostate:	n/a
35	chr11:55944198-55944248	K562	blood:	n/a
36	chr11:55944198-55944248	HEEpiC	esophagus:	n/a
37	chr11:55944198-55944248	BE2_C	brain:	n/a
38	chr11:55944198-55944248	ProgFib	skin:	n/a
39	chr11:55944198-55944248	SK-N-SH_RA	brain:	n/a
40	chr11:55944198-55944248	Caco-2	colon:	n/a
41	chr11:55944198-55944248	Hepatocyte	liver:	n/a
42	chr11:55944198-55944248	AG09309	skin:	n/a
43	chr11:55944198-55944248	GM12891	blood:	n/a
44	chr11:55944198-55944248	Hela-S3	cervix:	n/a
45	chr11:55944198-55944248	HIPEpiC	eye:	n/a
46	chr11:55944198-55944248	GM12878	blood:	n/a
47	chr11:55944198-55944248	HNPCEpiC	eye:	n/a
48	chr11:55944198-55944248	HUVEC	blood vessel:	n/a
49	chr11:55944198-55944248	HRE	kidney:	n/a
50	chr11:55944198-55944248	GM06990	blood:	n/a

No data

Variant related genes	Relation type
OR5J2	TF binding region
OR5J2	CpG island

Extended variants
information (count: 0)
Associated
traits (count: 47 )

No data

Variant related diseases (count:47)

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
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
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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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