Variant report

Variant	esv3361689
Chromosome Location	chr19:43901312-43903410
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	chr19:43902480-43902532	MCF-7	breast:	n/a	n/a
2	MXI1	chr19:43901745-43901769	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:43901933-43903290	K562	blood:	n/a	n/a
4	POLR2A	chr19:43903191-43903347	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr19:43901132-43901521	K562	blood:	n/a	n/a

Variant related genes	Relation type
TEX101	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8112496	chr19:43901312-43901313	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555848788	chr19:43901339-43901340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs569165024	chr19:43901357-43901358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs549414783	chr19:43901367-43901368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558187608	chr19:43901374-43901375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs578216893	chr19:43901392-43901393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs117038670	chr19:43901447-43901448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs118061383	chr19:43901489-43901490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs529056129	chr19:43901956-43901957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201961830	chr19:43901957-43901958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs549222689	chr19:43901985-43901986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs569304554	chr19:43901993-43901994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs58911775	chr19:43901994-43901995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs368415760	chr19:43901995-43901996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs61486614	chr19:43902003-43902004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs10418251	chr19:43902027-43902028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs372425308	chr19:43902029-43902030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs10419963	chr19:43902037-43902038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs10419970	chr19:43902044-43902045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs10418274	chr19:43902054-43902055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs10418276	chr19:43902061-43902062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs377003439	chr19:43902063-43902064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs10419984	chr19:43902071-43902072	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs10418443	chr19:43902095-43902096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs35688821	chr19:43902128-43902129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs10418469	chr19:43902129-43902130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs368080869	chr19:43902131-43902132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs371789197	chr19:43902139-43902140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs376092524	chr19:43902153-43902154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs12976187	chr19:43902162-43902163	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs369126586	chr19:43902165-43902166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs372386837	chr19:43902173-43902174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs375446054	chr19:43902199-43902200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs369729094	chr19:43902207-43902208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs71169229	chr19:43902250-43902251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs548573223	chr19:43902359-43902360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112935071	chr19:43902367-43902368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs571540234	chr19:43902371-43902372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs551859967	chr19:43902379-43902380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs534266951	chr19:43902385-43902386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs554004234	chr19:43902401-43902402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs573912642	chr19:43902406-43902407	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200835700	chr19:43902418-43902419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs187579092	chr19:43902485-43902486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189098795	chr19:43902498-43902499	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs575333488	chr19:43902500-43902501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs569198408	chr19:43902691-43902692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs149999752	chr19:43902718-43902719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs564158696	chr19:43902801-43902802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs76291611	chr19:43902844-43902845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21509527	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD
Lung squamous cell carcinoma	22363434	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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