Variant report

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189900571	chr19:24354553-24354554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561417655	chr19:24354592-24354593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs539540083	chr19:24354629-24354630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540119788	chr19:24354631-24354632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs17770006	chr19:24354633-24354634	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73029290	chr19:24354637-24354638	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537205026	chr19:24354647-24354648	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs139422177	chr19:24354658-24354659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24337000-24359200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:24344400-24354800	Weak transcription	Dnd41	blood
3	chr19:24346000-24357200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:24346400-24357200	Weak transcription	Left Ventricle	heart
5	chr19:24347800-24357000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:24351400-24355200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr19:24352200-24355000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:24352800-24355800	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr19:24353600-24354800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:24354000-24355000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
11	chr19:24354000-24356800	Weak transcription	Ovary	ovary
12	chr19:24354200-24356600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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