Variant report

Variant	nsv960812
Chromosome Location	chr19:22628804-22639361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:22631575-22631622	ProgFib	skin:	n/a	n/a
2	CTCF	chr19:22637352-22637425	Kidney_OC	kidney:	n/a	n/a
3	MAFF	chr19:22629525-22629725	K562	blood:	n/a	chr19:22629597-22629615
4	MAFF	chr19:22629440-22629776	HepG2	liver:	n/a	chr19:22629597-22629615
5	MAFK	chr19:22629496-22629752	HepG2	liver:	n/a	chr19:22629599-22629610 chr19:22629599-22629614
6	MAFK	chr19:22629429-22629779	HepG2	liver:	n/a	chr19:22629599-22629610 chr19:22629599-22629614
7	MAFK	chr19:22629504-22629704	K562	blood:	n/a	chr19:22629599-22629610 chr19:22629599-22629614
8	MAFK	chr19:22629432-22629781	IMR90	lung:	n/a	chr19:22629599-22629610 chr19:22629599-22629614
9	POLR2A	chr19:22631470-22631703	A549	lung:	n/a	n/a
10	POLR2A	chr19:22631806-22631933	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr19:22638440-22638640	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr19:22630561-22630654	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr19:22631539-22631615	Gliobla	brain:	n/a	n/a
14	POLR2A	chr19:22634600-22634720	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr19:22633472-22633599	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF729-6	chr19:22638790-22639261	ENSG00000270947.1
2	lnc-ZNF98-4	chr19:22631148-22631579	NONHSAT063788
3	lnc-ZNF98-4	chr19:22630736-22630857	NONHSAT063788

Variant related genes	Relation type
ENSG00000268830	TF binding region
ENSG00000270947	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541902973	chr19:22630767-22630768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs140753502	chr19:22630774-22630775	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs572115074	chr19:22630816-22630817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs541602456	chr19:22630826-22630827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs564784580	chr19:22630851-22630852	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs2935282	chr19:22631153-22631154	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs148697228	chr19:22631251-22631252	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs111532733	chr19:22631340-22631341	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs112480221	chr19:22631345-22631346	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs376873634	chr19:22631353-22631354	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs530893908	chr19:22631415-22631416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs551723826	chr19:22631439-22631440	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs142202413	chr19:22631479-22631480	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs371845840	chr19:22631490-22631491	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs188111763	chr19:22631525-22631526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs1813115	chr19:22631549-22631550	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535223303	chr19:22631552-22631553	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs553946456	chr19:22631630-22631631	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs140251073	chr19:22631674-22631675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs543652873	chr19:22631811-22631812	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs561644189	chr19:22631812-22631813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529092435	chr19:22631820-22631821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs547173628	chr19:22631855-22631856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs185858690	chr19:22631892-22631893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs550562153	chr19:22631893-22631894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs144292172	chr19:22631894-22631895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs533431448	chr19:22631916-22631917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs551494912	chr19:22631930-22631931	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs182188076	chr19:22633503-22633504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs540615048	chr19:22633512-22633513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs187105222	chr19:22633590-22633591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs375829558	chr19:22634602-22634603	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs577208432	chr19:22634612-22634613	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs189639412	chr19:22634680-22634681	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs558153670	chr19:22634711-22634712	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs541860316	chr19:22637363-22637364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs2957817	chr19:22637364-22637365	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572252318	chr19:22637402-22637403	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs546122632	chr19:22637424-22637425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs373545082	chr19:22638451-22638452	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs369735030	chr19:22638488-22638489	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs545392894	chr19:22638551-22638552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs563625692	chr19:22638569-22638570	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs530922023	chr19:22638584-22638585	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs373536932	chr19:22638631-22638632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs552886307	chr19:22638815-22638816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs572989191	chr19:22638816-22638817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs398079787	chr19:22638822-22638823	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs199930741	chr19:22638823-22638824	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs375297171	chr19:22638908-22638909	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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