Variant report

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541332137	chr19:23833263-23833264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543934541	chr19:23833276-23833277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368147242	chr19:23833277-23833278	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150148104	chr19:23833293-23833294	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11672723	chr19:23833341-23833342	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536702170	chr19:23833396-23833397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11085595	chr19:23833411-23833412	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186034006	chr19:23833426-23833427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549118376	chr19:23833435-23833436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

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	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
small cell lung cancer	20016488	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	chr19:23828000-23838800	Weak transcription	Stomach Mucosa	stomach
2	chr19:23832200-23835600	Weak transcription	HSMM	muscle
3	chr19:23832400-23833600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:23832600-23834200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:23832600-23835400	Weak transcription	Fetal Brain Male	brain
6	chr19:23832600-23865800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:23833000-23835200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:23833000-23835200	Weak transcription	Fetal Lung	lung
9	chr19:23833000-23836400	Weak transcription	Placenta	Placenta
10	chr19:23833000-23836600	Weak transcription	K562	blood
11	chr19:23833200-23836200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:23833400-23849800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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