Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:23496682-23497111	HepG2	liver:	n/a	n/a
2	CEBPB	chr19:23496706-23497071	A549	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC092329.1-2	chr19:23497078-23497228	NONHSAT063885

Variant related genes	Relation type
ZNF91	TF binding region

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561194974	chr19:23496972-23496973	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs183403411	chr19:23496999-23497000	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs426564	chr19:23497013-23497014	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528937153	chr19:23497038-23497039	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532107789	chr19:23497050-23497051	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs550237674	chr19:23497082-23497083	Weak transcription ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs295354	chr19:23497110-23497111	Weak transcription ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535805954	chr19:23497140-23497141	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs188069719	chr19:23497204-23497205	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs12980317	chr19:23497274-23497275	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:11 , 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	chr19:23496600-23512200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:23496800-23498400	ZNF genes & repeats	Fetal Brain Female	brain

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