Variant report

Variant	nsv9678
Chromosome Location	chr19:22347754-22361700
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	CEBPB	chr19:22353367-22353394	HepG2	liver:	n/a	chr19:22353370-22353381
2	CTCF	chr19:22353464-22353507	Lung_OC	lung:	n/a	n/a
3	CTCF	chr19:22350251-22350267	GM13976	blood:	n/a	n/a
4	CTCF	chr19:22354495-22354502	Medullo	brain:	n/a	n/a
5	IRF1	chr19:22355978-22356140	K562	blood:	n/a	n/a
6	JUND	chr19:22354162-22354387	HepG2	liver:	n/a	chr19:22354279-22354290
7	POLR2A	chr19:22354617-22354778	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr19:22347689-22347762	A549	lung:	n/a	n/a
9	POLR2A	chr19:22351267-22351387	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr19:22354862-22354995	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:22359642-22359794	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr19:22353179-22353554	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr19:22360031-22360451	MCF10A-Er-Src	breast:	n/a	n/a
14	ZNF274	chr19:22360274-22360770	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF676-2	chr19:22357568-22357993	NONHSAT063768

Variant related genes	Relation type
VN1R85P	TF binding region

Extended variants
information (count: 130 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199833638	chr19:22357584-22357585	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs201257770	chr19:22357608-22357609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs371666407	chr19:22357611-22357612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs557323076	chr19:22357613-22357614	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs190256620	chr19:22357616-22357617	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs576745928	chr19:22357657-22357658	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs576921692	chr19:22357687-22357688	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs562622308	chr19:22357701-22357702	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs529650653	chr19:22357706-22357707	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs201586100	chr19:22357712-22357713	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs34832057	chr19:22357714-22357715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs367845835	chr19:22357716-22357717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs111847233	chr19:22357736-22357737	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs414983	chr19:22357747-22357748	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs527603413	chr19:22357769-22357770	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs35408544	chr19:22357778-22357779	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs551916873	chr19:22357781-22357782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs570296655	chr19:22357801-22357802	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs531430505	chr19:22357805-22357806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs574759959	chr19:22357818-22357819	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs559735574	chr19:22357867-22357868	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs376813681	chr19:22357868-22357869	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs549859827	chr19:22357893-22357894	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs541878747	chr19:22357935-22357936	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs409627	chr19:22357936-22357937	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs74522409	chr19:22357958-22357959	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs554159992	chr19:22357959-22357960	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs190847360	chr19:22359437-22359438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs412658	chr19:22359440-22359441	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
30	rs183357517	chr19:22359470-22359471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs375882325	chr19:22359480-22359481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs372113448	chr19:22359483-22359484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113674168	chr19:22359504-22359505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201506052	chr19:22359517-22359518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs376921071	chr19:22359521-22359522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs186938134	chr19:22359523-22359524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150896117	chr19:22359538-22359539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191358202	chr19:22359543-22359544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs563274806	chr19:22359558-22359559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs528645752	chr19:22359580-22359581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539421240	chr19:22359598-22359599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs183375149	chr19:22359611-22359612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565403360	chr19:22359624-22359625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs539130146	chr19:22359656-22359657	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs187878409	chr19:22359691-22359692	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs569305543	chr19:22359697-22359698	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs536686777	chr19:22359717-22359718	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555593396	chr19:22359739-22359740	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs573853846	chr19:22359743-22359744	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs193172552	chr19:22359790-22359791	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22359400-22361200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr19:22360400-22368800	ZNF genes & repeats	Adipose Nuclei	Adipose

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