Variant report

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570336423	chr19:22834916-22834917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs141101385	chr19:22834917-22834918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs189934813	chr19:22834921-22834922	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs60835358	chr19:22834973-22834974	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs59051481	chr19:22835040-22835041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549561861	chr19:22835046-22835047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568069013	chr19:22835098-22835099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570676099	chr19:22835137-22835138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28782605	chr19:22835149-22835150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553518949	chr19:22835179-22835180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565646393	chr19:22835181-22835182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111885654	chr19:22835190-22835191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539017483	chr19:22835220-22835221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182505522	chr19:22835236-22835237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575891283	chr19:22835267-22835268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22831200-22835000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:22832800-22835000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:22833200-22835000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:22834200-22839200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:22834600-22835000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:22834600-22839200	Weak transcription	Dnd41	blood
7	chr19:22835000-22839200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr19:22835000-22844000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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