Variant report

Variant	esv3378473
Chromosome Location	chr11:55198242-55212331
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	CEBPB	chr11:55205280-55205382	HepG2	liver:	n/a	chr11:55205357-55205370 chr11:55205358-55205369
2	FOXA2	chr11:55198488-55198916	A549	lung:	n/a	n/a
3	NR2F2	chr11:55198562-55198744	K562	blood:	n/a	n/a
4	SPI1	chr11:55203363-55203542	GM12878	blood:	n/a	n/a
5	SPI1	chr11:55198733-55198928	K562	blood:	n/a	n/a
6	USF1	chr11:55198765-55198867	HepG2	liver:	n/a	chr11:55198818-55198829

Variant related genes	Relation type
OR4A10P	TF binding region
OR4A17P	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142160871	chr11:55198496-55198497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs144825255	chr11:55198505-55198506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557438292	chr11:55198509-55198510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575604440	chr11:55198511-55198512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113295749	chr11:55198533-55198534	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs35790948	chr11:55198555-55198556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs557722736	chr11:55198572-55198573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573239061	chr11:55198633-55198634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540505656	chr11:55198646-55198647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs4090717	chr11:55198664-55198665	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12295795	chr11:55198675-55198676	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs61918237	chr11:55198693-55198694	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563398601	chr11:55198700-55198701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs185897812	chr11:55198712-55198713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs190963874	chr11:55198715-55198716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs61918238	chr11:55198718-55198719	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528065595	chr11:55198726-55198727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs546931995	chr11:55198767-55198768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs145158375	chr11:55198770-55198771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs147610044	chr11:55198771-55198772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs569375681	chr11:55198773-55198774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs184008598	chr11:55198805-55198806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112544779	chr11:55198812-55198813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs572920541	chr11:55198816-55198817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs533997982	chr11:55198819-55198820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs555647708	chr11:55198839-55198840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs2113915	chr11:55198842-55198843	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs369631423	chr11:55198848-55198849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs56954182	chr11:55198862-55198863	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186533336	chr11:55198888-55198889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs545557573	chr11:55198894-55198895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs190543211	chr11:55198915-55198916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs528103494	chr11:55198920-55198921	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	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
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	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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