Variant report

Variant	esv3383110
Chromosome Location	chr19:23495475-23503145
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	chr19:23496706-23497071	A549	lung:	n/a	n/a
2	CEBPB	chr19:23501811-23502717	A549	lung:	n/a	n/a
3	CEBPB	chr19:23497501-23498224	HepG2	liver:	n/a	chr19:23497791-23497802
4	CEBPB	chr19:23497450-23498187	IMR90	lung:	n/a	chr19:23497791-23497802
5	CEBPB	chr19:23501817-23502718	IMR90	lung:	n/a	n/a
6	CEBPB	chr19:23497699-23497873	HepG2	liver:	n/a	chr19:23497791-23497802
7	CEBPB	chr19:23500993-23501113	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:23497414-23498155	A549	lung:	n/a	chr19:23497791-23497802
9	CEBPB	chr19:23498876-23499445	A549	lung:	n/a	n/a
10	CEBPB	chr19:23497598-23497912	HepG2	liver:	n/a	chr19:23497791-23497802
11	CEBPB	chr19:23501814-23502681	HepG2	liver:	n/a	n/a
12	CEBPB	chr19:23499135-23499414	HepG2	liver:	n/a	n/a
13	CEBPB	chr19:23496682-23497111	HepG2	liver:	n/a	n/a
14	CEBPB	chr19:23502391-23502648	Hela-S3	cervix:	n/a	n/a
15	FOS	chr19:23500959-23501325	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr19:23502442-23502654	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr19:23502468-23502721	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr19:23500995-23501321	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr19:23495291-23495598	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr19:23500981-23501266	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr19:23502461-23502676	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr19:23495319-23495602	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr19:23500996-23501320	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr19:23495268-23495652	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr19:23495308-23495669	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr19:23502601-23502657	MCF10A-Er-Src	breast:	n/a	n/a
27	FOSL2	chr19:23495284-23495590	MCF-7	breast:	n/a	n/a
28	FOSL2	chr19:23500969-23501330	HepG2	liver:	n/a	n/a
29	JUN	chr19:23497355-23497888	HepG2	liver:	n/a	n/a
30	JUND	chr19:23495253-23495586	HepG2	liver:	n/a	chr19:23495429-23495440
31	JUND	chr19:23501030-23501292	HepG2	liver:	n/a	chr19:23501131-23501142
32	JUND	chr19:23497406-23497850	HepG2	liver:	n/a	n/a
33	MAFF	chr19:23501995-23502088	HepG2	liver:	n/a	n/a
34	MAFK	chr19:23497736-23497927	HepG2	liver:	n/a	n/a
35	MAFK	chr19:23499023-23499304	HepG2	liver:	n/a	n/a
36	MAFK	chr19:23499056-23499282	HepG2	liver:	n/a	n/a
37	MYC	chr19:23502441-23502641	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr19:23498166-23498300	MCF10A-Er-Src	breast:	n/a	n/a
39	RCOR1	chr19:23497734-23497887	HepG2	liver:	n/a	n/a
40	RXRA	chr19:23497736-23497937	HepG2	liver:	n/a	n/a
41	SMC3	chr19:23497687-23497884	HepG2	liver:	n/a	n/a
42	ZEB1	chr19:23497675-23497972	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF730-2	chr19:23500840-23500868	XLOC_013020
2	lnc-AC092329.1-2	chr19:23497078-23497228	NONHSAT063885
3	lnc-AC092329.1-2	chr19:23500843-23500875	NONHSAT063885
4	lnc-ZNF730-3	chr19:23502462-23502571	XLOC_013021

Variant related genes	Relation type
ZNF91	TF binding region
ENSG00000267934	TF binding region

Extended variants
information (count: 323 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186826056	chr19:23495507-23495508	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs2438153	chr19:23495516-23495517	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140768836	chr19:23495611-23495612	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs567205107	chr19:23495612-23495613	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs535244439	chr19:23495628-23495629	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553256769	chr19:23495646-23495647	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs190920972	chr19:23495647-23495648	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs144718127	chr19:23495660-23495661	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs557222014	chr19:23495663-23495664	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs575241412	chr19:23495693-23495694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145783086	chr19:23495700-23495701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543150427	chr19:23495701-23495702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561453219	chr19:23495727-23495728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528542022	chr19:23495744-23495745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183064722	chr19:23495769-23495770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559310672	chr19:23495780-23495781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368770943	chr19:23495840-23495841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185252866	chr19:23495850-23495851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551743164	chr19:23495963-23495964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569927431	chr19:23495979-23495980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544490459	chr19:23495987-23495988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372146992	chr19:23496039-23496040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530524939	chr19:23496053-23496054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548674562	chr19:23496056-23496057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111367927	chr19:23496094-23496095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567372727	chr19:23496105-23496106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558298592	chr19:23496153-23496154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148555945	chr19:23496224-23496225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571547496	chr19:23496238-23496239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538807921	chr19:23496249-23496250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557234119	chr19:23496257-23496258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575503378	chr19:23496269-23496270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10427154	chr19:23496279-23496280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573560143	chr19:23496288-23496289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs295355	chr19:23496294-23496295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573166641	chr19:23496351-23496352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142937907	chr19:23496379-23496380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565371502	chr19:23496380-23496381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112155793	chr19:23496388-23496389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577923133	chr19:23496392-23496393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545179617	chr19:23496413-23496414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563597711	chr19:23496414-23496415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370482990	chr19:23496460-23496461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537548844	chr19:23496476-23496477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368020323	chr19:23496477-23496478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551317181	chr19:23496509-23496510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371860201	chr19:23496523-23496524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528080003	chr19:23496531-23496532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112766421	chr19:23496538-23496539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151108702	chr19:23496576-23496577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23486400-23508000	Weak transcription	Ovary	ovary
2	chr19:23489800-23498200	Weak transcription	Aorta	Aorta
3	chr19:23490000-23514200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:23490400-23500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr19:23491800-23508400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:23491800-23512800	Weak transcription	Left Ventricle	heart
7	chr19:23492400-23502600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:23493400-23499800	Enhancers	Placenta	Placenta
9	chr19:23494400-23518200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:23494800-23496600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:23496600-23512200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:23496800-23498400	ZNF genes & repeats	Fetal Brain Female	brain
13	chr19:23499800-23500800	Weak transcription	Placenta	Placenta
14	chr19:23500400-23516600	Weak transcription	Right Ventricle	heart
15	chr19:23500800-23501000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr19:23500800-23505800	Enhancers	Placenta	Placenta
17	chr19:23501000-23501800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr19:23501200-23512600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:23502600-23503000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:23503000-23503400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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