Variant report

Variant	esv3330033
Chromosome Location	chr19:44813552-44819322
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	chr19:44818802-44818973	HepG2	liver:	n/a	n/a
2	CTCF	chr19:44814480-44814630	GM12872	blood:	n/a	n/a
3	MAFF	chr19:44813616-44813922	K562	blood:	n/a	n/a
4	MAFF	chr19:44813560-44813952	HepG2	liver:	n/a	n/a
5	MAFK	chr19:44813621-44813924	IMR90	lung:	n/a	chr19:44813790-44813805
6	MAFK	chr19:44813792-44813811	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFK	chr19:44813538-44813963	HepG2	liver:	n/a	chr19:44813790-44813805
8	MAFK	chr19:44813578-44813958	HepG2	liver:	n/a	chr19:44813790-44813805
9	MAFK	chr19:44813690-44813862	Hela-S3	cervix:	n/a	chr19:44813790-44813805
10	MAFK	chr19:44813776-44813782	K562	blood:	n/a	n/a
11	MEF2A	chr19:44817289-44817638	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:44813893-44813987	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr19:44815947-44816101	GM12878	blood:	n/a	n/a
14	STAT3	chr19:44815050-44815155	MCF10A-Er-Src	breast:	n/a	n/a
15	ZNF384	chr19:44817418-44817619	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44739640..44742432-chr19:44813683..44816580,2	K562	blood:
2	chr19:44816445..44819048-chr19:45004238..45006383,2	MCF-7	breast:

Variant related genes	Relation type
ZNF235	TF binding region
ENSG00000167384	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138955864	chr19:44813553-44813554	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs77701217	chr19:44813582-44813583	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs115529199	chr19:44813615-44813616	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575390896	chr19:44813628-44813629	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs28382349	chr19:44813678-44813679	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs556460589	chr19:44813691-44813692	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs10413396	chr19:44813702-44813703	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186373523	chr19:44813708-44813709	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538654279	chr19:44813751-44813752	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs558863607	chr19:44813941-44813942	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs370774220	chr19:44813960-44813961	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs189612368	chr19:44814030-44814031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143344223	chr19:44814044-44814045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559822357	chr19:44814057-44814058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573905101	chr19:44814058-44814059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370735710	chr19:44814061-44814062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147135723	chr19:44814097-44814098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542812584	chr19:44814098-44814099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs898175	chr19:44814100-44814101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140336690	chr19:44814135-44814136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74390979	chr19:44814136-44814137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564888997	chr19:44814269-44814270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112015996	chr19:44814284-44814285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs547446365	chr19:44814333-44814334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142749118	chr19:44814340-44814341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530245475	chr19:44814356-44814357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs144496422	chr19:44814388-44814389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs12977638	chr19:44814402-44814403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs898176	chr19:44814474-44814475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558719417	chr19:44814476-44814477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370178055	chr19:44814508-44814509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367630467	chr19:44814533-44814534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58715603	chr19:44814565-44814566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574948973	chr19:44814569-44814570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542847374	chr19:44814589-44814590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556391400	chr19:44814596-44814597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576446701	chr19:44814602-44814603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549458049	chr19:44814626-44814627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564754255	chr19:44814629-44814630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572027768	chr19:44814703-44814704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574693927	chr19:44814704-44814705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3056455	chr19:44814705-44814706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs898177	chr19:44814731-44814732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2249402	chr19:44814779-44814780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181452042	chr19:44814788-44814789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2722711	chr19:44814843-44814844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs186284843	chr19:44814962-44814963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532699967	chr19:44814976-44814977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552857577	chr19:44815006-44815007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565871988	chr19:44815040-44815041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44813400-44814200	Enhancers	HSMMtube	muscle
2	chr19:44813800-44814200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:44814200-44814400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
4	chr19:44814400-44815000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr19:44814600-44824600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr19:44815000-44815400	ZNF genes & repeats	Ovary	ovary
7	chr19:44817000-44818400	Enhancers	Primary B cells from peripheral blood	blood
8	chr19:44818000-44819000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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