Variant report

Variant	esv3437405
Chromosome Location	chr12:34299993-34300580
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	CTCF	chr12:34300560-34300710	GM12873	blood:	n/a	n/a
2	CTCF	chr12:34300540-34300690	AoAF	blood vessel:	n/a	n/a
3	FOS	chr12:34300466-34300712	MCF10A-Er-Src	breast:	n/a	n/a
4	IRF1	chr12:34300513-34300519	K562	blood:	n/a	n/a
5	POLR2A	chr12:34300192-34300392	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:34300425-34300623	MCF10A-Er-Src	breast:	n/a	n/a
7	RFX5	chr12:34300511-34300733	GM12878	blood:	n/a	n/a
8	SIN3AK20	chr12:34300468-34300580	HepG2	liver:	n/a	n/a
9	SPI1	chr12:34299913-34300207	HL-60	blood:	n/a	n/a
10	SPI1	chr12:34299983-34300227	K562	blood:	n/a	n/a
11	USF2	chr12:34300561-34300704	K562	blood:	n/a	n/a
12	ZNF384	chr12:34300048-34300134	K562	blood:	n/a	n/a
13	ZNF384	chr12:34300079-34300274	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255628	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149017181	chr12:34300005-34300006	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs143816249	chr12:34300006-34300007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs34555319	chr12:34300008-34300009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs76658331	chr12:34300015-34300016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs78495098	chr12:34300017-34300018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs369836306	chr12:34300023-34300024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs35035939	chr12:34300055-34300056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371798608	chr12:34300067-34300068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs76847549	chr12:34300085-34300086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs531773914	chr12:34300096-34300097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs374950032	chr12:34300097-34300098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs560945243	chr12:34300109-34300110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551488081	chr12:34300117-34300118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs78238355	chr12:34300125-34300126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs386376194	chr12:34300133-34300134	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs386376195	chr12:34300150-34300151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs71298046	chr12:34300153-34300154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs571430639	chr12:34300178-34300179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs533996006	chr12:34300196-34300197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs11053139	chr12:34300231-34300232	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112348870	chr12:34300236-34300237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs189989095	chr12:34300241-34300242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555367810	chr12:34300247-34300248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs575547033	chr12:34300296-34300297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs193210365	chr12:34300342-34300343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185614722	chr12:34300363-34300364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs371822711	chr12:34300370-34300371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs539899215	chr12:34300376-34300377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs553776097	chr12:34300386-34300387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs573545987	chr12:34300387-34300388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs545213934	chr12:34300425-34300426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs565097179	chr12:34300426-34300427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs56122076	chr12:34300466-34300467	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73313384	chr12:34300491-34300492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs547574645	chr12:34300502-34300503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs7967634	chr12:34300510-34300511	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113368732	chr12:34300516-34300517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs374385030	chr12:34300518-34300519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs369880685	chr12:34300527-34300528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372869492	chr12:34300545-34300546	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs188037413	chr12:34300547-34300548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs180760120	chr12:34300570-34300571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs61933986	chr12:34300572-34300573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs545805435	chr12:34300577-34300578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	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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