Variant report

Variant	nsv515577
Chromosome Location	chr19:21152367-21164399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:21153810-21154256	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr19:21152662-21152674	HepG2	liver:	n/a	n/a
3	CEBPB	chr19:21154510-21154909	A549	lung:	n/a	n/a
4	CEBPB	chr19:21153717-21154132	IMR90	lung:	n/a	n/a
5	CEBPB	chr19:21153648-21154070	A549	lung:	n/a	n/a
6	CEBPB	chr19:21153393-21155054	HepG2	liver:	n/a	n/a
7	E2F4	chr19:21157778-21158032	MCF10A-Er-Src	breast:	n/a	n/a
8	EBF1	chr19:21162172-21162312	GM12878	blood:	n/a	n/a
9	FOSL2	chr19:21152349-21152585	HepG2	liver:	n/a	n/a
10	JUND	chr19:21152363-21152563	HepG2	liver:	n/a	chr19:21152458-21152469
11	POLR2A	chr19:21159276-21159394	K562	blood:	n/a	n/a
12	POLR2A	chr19:21162443-21162841	K562	blood:	n/a	n/a
13	POLR2A	chr19:21152504-21152520	MCF10A-Er-Src	breast:	n/a	n/a
14	ZNF274	chr19:21153157-21153357	NT2-D1	testis:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF626-5	chr19:21154184-21154294	NONHSAT063678
2	lnc-ZNF626-5	chr19:21154460-21154697	NONHSAT063678
3	lnc-ZNF85-1	chr19:21155029-21155323	XLOC_013005
4	lnc-ZNF85-1	chr19:21155068-21155323	ENSG00000268326.1

No data

Variant related genes	Relation type
ENSG00000268326	TF binding region
OAZ1	miRNA target sites
WNK1	miRNA target sites

Extended variants
information (count: 123 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10426078	chr19:21152367-21152368	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147071271	chr19:21152403-21152404	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs184595674	chr19:21152459-21152460	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs10426307	chr19:21152486-21152487	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs147668989	chr19:21152511-21152512	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs189317066	chr19:21152614-21152615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550767575	chr19:21152635-21152636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148084525	chr19:21152643-21152644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564301089	chr19:21152690-21152691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533341231	chr19:21152708-21152709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12151124	chr19:21152743-21152744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566831342	chr19:21152744-21152745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541694437	chr19:21152803-21152804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561702434	chr19:21152881-21152882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569135927	chr19:21152913-21152914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575357433	chr19:21152925-21152926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538096356	chr19:21152937-21152938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554990130	chr19:21152952-21152953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13345292	chr19:21152983-21152984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs141411597	chr19:21153004-21153005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553864164	chr19:21153018-21153019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573622511	chr19:21153051-21153052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13345335	chr19:21153058-21153059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374598470	chr19:21153062-21153063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13343465	chr19:21153079-21153080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs34810042	chr19:21153083-21153084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564437641	chr19:21153096-21153097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147014717	chr19:21153118-21153119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546863666	chr19:21153136-21153137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560657187	chr19:21153143-21153144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374904985	chr19:21153172-21153173	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs35232563	chr19:21153214-21153215	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs147133609	chr19:21153215-21153216	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs71281818	chr19:21153217-21153218	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs367715734	chr19:21153244-21153245	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs549366602	chr19:21153245-21153246	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs372572454	chr19:21153272-21153273	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs181940068	chr19:21153279-21153280	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs531731703	chr19:21153342-21153343	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs75854541	chr19:21153362-21153363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185309044	chr19:21153364-21153365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533995024	chr19:21153375-21153376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573461930	chr19:21153404-21153405	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs553658865	chr19:21153408-21153409	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs191195852	chr19:21153410-21153411	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs535929887	chr19:21153460-21153461	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs12979034	chr19:21153468-21153469	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs367723535	chr19:21153469-21153470	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs138027264	chr19:21153488-21153489	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544583929	chr19:21153509-21153510	Enhancers	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
Schizophrenia	20967226	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21152000-21152400	Weak transcription	Pancreas	Pancrea
2	chr19:21152400-21153400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:21152400-21155000	Enhancers	Pancreas	Pancrea

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