Variant report

Variant	esv3354455
Chromosome Location	chr12:33720685-33725483
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	EP300	chr12:33722252-33722384	K562	blood:	n/a	n/a
2	FOS	chr12:33720614-33720933	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
3	FOS	chr12:33720657-33720864	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
4	FOS	chr12:33720624-33720933	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
5	FOS	chr12:33720627-33720930	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
6	MAFK	chr12:33721789-33721821	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:33724680-33724892	MCF10A-Er-Src	breast:	n/a	n/a
8	SPI1	chr12:33722203-33722358	K562	blood:	n/a	n/a
9	SPI1	chr12:33722186-33722448	HL-60	blood:	n/a	n/a
10	SPI1	chr12:33722194-33722387	K562	blood:	n/a	n/a
11	STAT3	chr12:33721431-33721792	MCF10A-Er-Src	breast:	n/a	n/a
12	TBL1XR1	chr12:33722334-33722377	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:33719195..33722497-chr12:33723252..33727386,3	MCF-7	breast:
2	chr12:33719195..33722497-chr12:33723252..33727386,3	MCF-7	breast:
3	chr12:33721763..33724607-chr12:33725779..33728514,2	MCF-7	breast:
4	chr12:33724218..33727073-chr12:33731146..33732945,2	MCF-7	breast:
5	chr12:33720010..33722634-chr12:33727963..33730491,2	K562	blood:

Variant related genes	Relation type
RNU6-400P	TF binding region
ENSG00000212475	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535504945	chr12:33720735-33720736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138746513	chr12:33720747-33720748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141564930	chr12:33720755-33720756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537444622	chr12:33720765-33720766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146178985	chr12:33720767-33720768	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11052758	chr12:33720781-33720782	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114142238	chr12:33720805-33720806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148441066	chr12:33720854-33720855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141656795	chr12:33720933-33720934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs118110966	chr12:33720942-33720943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111671076	chr12:33720988-33720989	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78717820	chr12:33721002-33721003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568569715	chr12:33721043-33721044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576340853	chr12:33721066-33721067	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373353671	chr12:33721067-33721068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139341705	chr12:33721072-33721073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185667746	chr12:33721212-33721213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74419648	chr12:33721223-33721224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs145687886	chr12:33721264-33721265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10844641	chr12:33721398-33721399	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs864173	chr12:33721422-33721423	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188228262	chr12:33721460-33721461	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568853580	chr12:33721487-33721488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537983011	chr12:33721547-33721548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550943336	chr12:33721636-33721637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs180933761	chr12:33721702-33721703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185511264	chr12:33721733-33721734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554061479	chr12:33721737-33721738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs860088	chr12:33721807-33721808	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12831417	chr12:33721817-33721818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558180405	chr12:33721862-33721863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573226574	chr12:33721870-33721871	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536450924	chr12:33721906-33721907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540936715	chr12:33721932-33721933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188708999	chr12:33721948-33721949	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542230803	chr12:33722025-33722026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558961295	chr12:33722034-33722035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562333267	chr12:33722044-33722045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs815045	chr12:33722057-33722058	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547595287	chr12:33722074-33722075	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544455403	chr12:33722106-33722107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565252096	chr12:33722116-33722117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370413194	chr12:33722152-33722153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572488114	chr12:33722164-33722165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540491000	chr12:33722165-33722166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34917734	chr12:33722176-33722177	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200331706	chr12:33722183-33722184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11384631	chr12:33722184-33722185	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs63443962	chr12:33722185-33722186	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552574822	chr12:33722209-33722210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	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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