Variant report

Variant	esv3357953
Chromosome Location	chr19:45061712-45063710
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	chr19:45062853-45062876	K562	blood:	n/a	n/a
2	GATA3	chr19:45060857-45061715	MCF-7	breast:	n/a	n/a
3	POLR2A	chr19:45063696-45063802	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr19:45061003-45061751	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45003124..45004626-chr19:45062170..45065011,2	K562	blood:

Variant related genes	Relation type
CEACAM22P	TF binding region
ENSG00000167384	chromatin interactions

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	rs544801371	chr19:45061714-45061715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564848775	chr19:45061716-45061717	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs527295348	chr19:45061720-45061721	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191450460	chr19:45062171-45062172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572150000	chr19:45062216-45062217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540646520	chr19:45062296-45062297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147811973	chr19:45062346-45062347	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183982768	chr19:45062390-45062391	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141383196	chr19:45062400-45062401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113091743	chr19:45062436-45062437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563826388	chr19:45062457-45062458	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113875107	chr19:45062463-45062464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532588942	chr19:45062481-45062482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35358347	chr19:45062495-45062496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs66555646	chr19:45062496-45062497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567955381	chr19:45062497-45062498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552784074	chr19:45062523-45062524	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12980093	chr19:45062547-45062548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113539256	chr19:45062552-45062553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12978720	chr19:45062553-45062554	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187137799	chr19:45062574-45062575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145292790	chr19:45062594-45062595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548146485	chr19:45062672-45062673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568140443	chr19:45062737-45062738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11083741	chr19:45062779-45062780	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs193083558	chr19:45062807-45062808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185038508	chr19:45062851-45062852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190326981	chr19:45062852-45062853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558743137	chr19:45062861-45062862	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549126613	chr19:45062881-45062882	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543539094	chr19:45062920-45062921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs193010732	chr19:45062955-45062956	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184947167	chr19:45063070-45063071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188243923	chr19:45063110-45063111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574487360	chr19:45063111-45063112	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76063431	chr19:45063122-45063123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543484592	chr19:45063130-45063131	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149117412	chr19:45063154-45063155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562266454	chr19:45063172-45063173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529514501	chr19:45063173-45063174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114437119	chr19:45063219-45063220	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375294568	chr19:45063241-45063242	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7252768	chr19:45063261-45063262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559914406	chr19:45063309-45063310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143219226	chr19:45063332-45063333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181064498	chr19:45063359-45063360	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561704223	chr19:45063365-45063366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1661188	chr19:45063399-45063400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569248501	chr19:45063404-45063405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550610198	chr19:45063477-45063478	Inactive region	Chromatin interactive 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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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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