Variant report

Variant	esv3473829
Chromosome Location	chr11:5872676-5881474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:5872999-5873041	K562	blood:	n/a	n/a
2	CTCF	chr11:5881260-5881410	K562	blood:	n/a	n/a
3	POLR2A	chr11:5881104-5881191	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:5875602-5875721	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:5874795-5874859	GM12878	blood:	n/a	n/a
6	SPI1	chr11:5875635-5875791	K562	blood:	n/a	n/a
7	SPI1	chr11:5875526-5875870	HL-60	blood:	n/a	n/a
8	SPI1	chr11:5875598-5875807	GM12891	blood:	n/a	n/a
9	SPI1	chr11:5875626-5875733	GM12878	blood:	n/a	n/a
10	TCF7L2	chr11:5875863-5876193	HepG2	liver:	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	chr11:5878019-5878069	GM12892	blood:	n/a
2	chr11:5878958-5879008	IMR90	lung:	fetal
3	chr11:5878958-5879008	LNCaP	prostate:	n/a
4	chr11:5879799-5879849	PANC-1	pancreas:	n/a
5	chr11:5878955-5879005	HMEC	breast:	n/a
6	chr11:5878019-5878069	HMEC	breast:	n/a
7	chr11:5878958-5879008	HUVEC	blood vessel:	n/a
8	chr11:5879799-5879849	HUVEC	blood vessel:	n/a
9	chr11:5879799-5879849	SK-N-SH_RA	brain:	n/a
10	chr11:5878958-5879008	SKMC	muscle:	n/a
11	chr11:5878019-5878069	LNCaP	prostate:	n/a
12	chr11:5879799-5879849	PrEC	prostate:	n/a
13	chr11:5878019-5878069	Jurkat	blood:	n/a
14	chr11:5879799-5879849	SKMC	muscle:	n/a
15	chr11:5878019-5878069	Hela-S3	cervix:	n/a
16	chr11:5879799-5879849	HEK293	kidney:	embryo
17	chr11:5879799-5879849	K562	blood:	n/a
18	chr11:5879799-5879849	Hepatocyte	liver:	n/a
19	chr11:5879799-5879849	SK-N-SH	brain:	n/a
20	chr11:5878958-5879008	HCT-116	colon:	n/a
21	chr11:5879799-5879849	NH-A	brain:	n/a
22	chr11:5878958-5879008	SAEC	small airway:	n/a
23	chr11:5878955-5879005	GM12891	blood:	n/a
24	chr11:5878019-5878069	A549	lung:	n/a
25	chr11:5878955-5879005	LNCaP	prostate:	n/a
26	chr11:5878958-5879008	AG04450	lung:	fetal
27	chr11:5879799-5879849	HRE	kidney:	n/a
28	chr11:5878958-5879008	HEK293	kidney:	embryo
29	chr11:5879799-5879849	T-47D	breast:	n/a
30	chr11:5878955-5879005	IMR90	lung:	fetal
31	chr11:5878958-5879008	ProgFib	skin:	n/a
32	chr11:5878958-5879008	HRPEpiC	eye:	n/a
33	chr11:5879799-5879849	AG04450	lung:	fetal
34	chr11:5879799-5879849	GM06990	blood:	n/a
35	chr11:5878958-5879008	GM12892	blood:	n/a
36	chr11:5878955-5879005	HCF	heart:	n/a
37	chr11:5879799-5879849	IMR90	lung:	fetal
38	chr11:5878955-5879005	NB4	blood:	n/a
39	chr11:5879799-5879849	AG10803	skin:	n/a
40	chr11:5878958-5879008	HIPEpiC	eye:	n/a
41	chr11:5878955-5879005	BE2_C	brain:	n/a
42	chr11:5878958-5879008	BJ	skin:	n/a
43	chr11:5878958-5879008	AG09319	gingival:	n/a
44	chr11:5879799-5879849	HCPEpiC	choroid plexus:	n/a
45	chr11:5878019-5878069	HEEpiC	esophagus:	n/a
46	chr11:5879799-5879849	AG09309	skin:	n/a
47	chr11:5879799-5879849	AG09319	gingival:	n/a
48	chr11:5879799-5879849	NT2-D1	testis:	n/a
49	chr11:5879799-5879849	HMEC	breast:	n/a
50	chr11:5879799-5879849	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
OR52E8	TF binding region
OR52E8	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367652594	chr11:5878967-5878968	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs184876955	chr11:5879847-5879848	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs143130530	chr11:5881135-5881136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs560802421	chr11:5881142-5881143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs553663294	chr11:5881159-5881160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs574378948	chr11:5881165-5881166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542692107	chr11:5881185-5881186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs180889082	chr11:5881285-5881286	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577428428	chr11:5881403-5881404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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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