Variant report

Variant	nsv1056458
Chromosome Location	chr19:22975238-23008554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC011467.1-1	chr19:23003902-23004064	XLOC_013015
2	lnc-AC011467.1-4	chr19:23007223-23007327	NONHSAT063823
3	lnc-AC011467.1-4	chr19:23006422-23006528	NONHSAT063823
4	lnc-AC011467.1-4	chr19:23004067-23004135	NONHSAT063823
5	lnc-AC011467.1-1	chr19:23003240-23003295	XLOC_013015

Extended variants
information (count: 655 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150739656	chr19:22984602-22984603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs182654141	chr19:22984649-22984650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs547496877	chr19:22984667-22984668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs139065208	chr19:22984671-22984672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs533737253	chr19:22984681-22984682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs558759736	chr19:22984726-22984727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs577049816	chr19:22984778-22984779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs538166394	chr19:22984785-22984786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577904613	chr19:22984857-22984858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs555855518	chr19:22984863-22984864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs200527179	chr19:22984881-22984882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs186139202	chr19:22984882-22984883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs389207	chr19:22984893-22984894	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560292382	chr19:22984894-22984895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572216716	chr19:22984909-22984910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149875939	chr19:22985028-22985029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553483269	chr19:22985038-22985039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs378306	chr19:22985049-22985050	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371650	chr19:22985053-22985054	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561706650	chr19:22985088-22985089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs529255732	chr19:22985093-22985094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs76759547	chr19:22985114-22985115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs191460190	chr19:22985136-22985137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565829644	chr19:22985153-22985154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs539581318	chr19:22985154-22985155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs184104804	chr19:22985165-22985166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552062720	chr19:22985166-22985167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs144871992	chr19:22985218-22985219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537712626	chr19:22985219-22985220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556429787	chr19:22985285-22985286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568012061	chr19:22985289-22985290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142644345	chr19:22985296-22985297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553844019	chr19:22985301-22985302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188902339	chr19:22985332-22985333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193229477	chr19:22985385-22985386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558034675	chr19:22985425-22985426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575803738	chr19:22985426-22985427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576588855	chr19:22985461-22985462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144900451	chr19:22985466-22985467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2617781	chr19:22985505-22985506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529585637	chr19:22985506-22985507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147934907	chr19:22985507-22985508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559352408	chr19:22985559-22985560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182351724	chr19:22985565-22985566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371774321	chr19:22985578-22985579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186622723	chr19:22985601-22985602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570510520	chr19:22985615-22985616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531535332	chr19:22985619-22985620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550045135	chr19:22985667-22985668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568352002	chr19:22985698-22985699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22984600-22985200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:22984800-22985200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:22984800-22985200	ZNF genes & repeats	Pancreas	Pancrea
4	chr19:22985200-22986200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:22986200-22986800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:22987000-22987800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:22987800-22990600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:22988200-22990200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:22988800-22990400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:22989400-22989600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr19:22989400-22989800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
12	chr19:22989400-22990600	ZNF genes & repeats	Spleen	Spleen
13	chr19:22989600-22990600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:22989800-22990000	Bivalent/Poised TSS	Right Ventricle	heart
15	chr19:22989800-22990200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr19:22989800-22990600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr19:22989800-22990600	Bivalent Enhancer	Ovary	ovary
18	chr19:22989800-22990800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr19:22990000-22990200	Bivalent Enhancer	Left Ventricle	heart
20	chr19:22990000-22990600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
21	chr19:22990600-22990800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr19:22990600-22990800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
23	chr19:22990600-22990800	Bivalent/Poised TSS	Right Ventricle	heart
24	chr19:22997000-23005800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:23003800-23005800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr19:23005400-23005600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:23005400-23005600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:23005400-23005600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:23005400-23005600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:23005400-23005600	Flanking Bivalent TSS/Enh	HSMM	muscle
31	chr19:23005400-23005600	Enhancers	HSMMtube	muscle
32	chr19:23005400-23005600	ZNF genes & repeats	NHLF	lung
33	chr19:23007000-23007400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:23008400-23009200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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