Variant report

Variant	esv19352
Chromosome Location	chr15:82663111-82683152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:82673641-82673955	GM12878	blood:	n/a	n/a
2	BATF	chr15:82673713-82673926	GM12878	blood:	n/a	n/a
3	BCL11A	chr15:82673677-82674076	GM12878	blood:	n/a	n/a
4	BCL11A	chr15:82673757-82674014	GM12878	blood:	n/a	n/a
5	CEBPD	chr15:82681500-82681862	K562	blood:	n/a	n/a
6	CTCF	chr15:82671781-82671995	K562	blood:	n/a	n/a
7	CTCF	chr15:82671697-82672237	A549	lung:	n/a	n/a
8	CTCF	chr15:82671710-82672011	A549	lung:	n/a	n/a
9	CTCF	chr15:82671885-82672032	MCF-7	breast:	n/a	n/a
10	CTCF	chr15:82671915-82671997	HepG2	liver:	n/a	n/a
11	CTCF	chr15:82671931-82671981	GM13977	blood:	n/a	n/a
12	CTCF	chr15:82671879-82672047	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr15:82671903-82672032	K562	blood:	n/a	n/a
14	CTCF	chr15:82671750-82672141	K562	blood:	n/a	n/a
15	CTCF	chr15:82671899-82671986	ProgFib	skin:	n/a	n/a
16	CTCF	chr15:82671635-82672119	A549	lung:	n/a	n/a
17	CTCF	chr15:82671921-82672007	MCF-7	breast:	n/a	n/a
18	CTCF	chr15:82671907-82672003	Gliobla	brain:	n/a	n/a
19	CTCF	chr15:82671763-82672079	K562	blood:	n/a	n/a
20	CTCF	chr15:82671735-82672155	A549	lung:	n/a	n/a
21	CTCF	chr15:82671923-82672004	HUVEC	blood vessel:	n/a	n/a
22	EBF1	chr15:82673638-82673993	GM12878	blood:	n/a	n/a
23	EBF1	chr15:82677407-82677624	GM12878	blood:	n/a	n/a
24	EBF1	chr15:82673605-82674017	GM12878	blood:	n/a	n/a
25	EP300	chr15:82665744-82666001	GM12878	blood:	n/a	n/a
26	FOSL2	chr15:82665752-82666073	HepG2	liver:	n/a	n/a
27	FOSL2	chr15:82662807-82663159	HepG2	liver:	n/a	chr15:82663079-82663091
28	FOXA1	chr15:82662616-82663239	HepG2	liver:	n/a	n/a
29	FOXA1	chr15:82667644-82668076	HepG2	liver:	n/a	n/a
30	GABPA	chr15:82677440-82677541	HepG2	liver:	n/a	n/a
31	GABPA	chr15:82665854-82666005	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr15:82665740-82666096	Hela-S3	cervix:	n/a	n/a
33	GATA2	chr15:82679515-82679808	K562	blood:	n/a	chr15:82679580-82679587 chr15:82679707-82679723 chr15:82679580-82679587 chr15:82679580-82679587 chr15:82679705-82679726 chr15:82679573-82679594
34	GATA2	chr15:82665762-82666163	K562	blood:	n/a	n/a
35	GATA2	chr15:82680336-82680719	K562	blood:	n/a	chr15:82680503-82680510
36	GATA2	chr15:82664394-82665339	K562	blood:	n/a	n/a
37	GATA2	chr15:82668379-82668820	K562	blood:	n/a	n/a
38	GATA2	chr15:82666545-82666817	K562	blood:	n/a	n/a
39	GATA2	chr15:82681440-82681895	K562	blood:	n/a	n/a
40	HEY1	chr15:82673497-82673732	K562	blood:	n/a	n/a
41	HEY1	chr15:82664708-82665094	HepG2	liver:	n/a	n/a
42	HEY1	chr15:82664428-82665135	K562	blood:	n/a	n/a
43	IRF4	chr15:82673580-82673911	GM12878	blood:	n/a	n/a
44	IRF4	chr15:82673385-82674075	GM12878	blood:	n/a	n/a
45	JUND	chr15:82664665-82664851	HepG2	liver:	n/a	n/a
46	NR2F2	chr15:82681488-82681897	K562	blood:	n/a	n/a
47	NR2F2	chr15:82681340-82682002	K562	blood:	n/a	n/a
48	NR3C1	chr15:82665776-82666442	A549	lung:	n/a	n/a
49	NR3C1	chr15:82666134-82666376	A549	lung:	n/a	n/a
50	NR3C1	chr15:82665667-82666345	A549	lung:	n/a	n/a

Variant related genes	Relation type
UBE2Q2P6	TF binding region
UBE2Q2P2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201111611	chr15:82665339-82665340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs3874301	chr15:82665728-82665729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs376574103	chr15:82668344-82668345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs562498785	chr15:82668535-82668536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs551375981	chr15:82668561-82668562	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs571549340	chr15:82668574-82668575	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs62011076	chr15:82668580-82668581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs539818401	chr15:82668622-82668623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs373876751	chr15:82680457-82680458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200016279	chr15:82680677-82680678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs549331711	chr15:82680717-82680718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:0 , 50 per page) page:

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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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