Variant report

Variant	nsv579496
Chromosome Location	chr19:38343099-38344536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:38344100-38344250	MCF-7	breast:	n/a	n/a
2	POLR2A	chr19:38343653-38343743	ProgFib	skin:	n/a	n/a
3	RAD21	chr19:38344061-38344261	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr19:38343911-38344218	H1-hESC	embryonic stem cell:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38344058-38344108	AG09319	gingival:	n/a
2	chr19:38344058-38344108	HPAEpiC	pulmonary alveolar:	n/a
3	chr19:38343327-38343377	HRCEpiC	kidney:	n/a
4	chr19:38343327-38343377	PrEC	prostate:	n/a
5	chr19:38344058-38344108	T-47D	breast:	n/a
6	chr19:38344455-38344505	SKMC	muscle:	n/a
7	chr19:38343327-38343377	GM12892	blood:	n/a
8	chr19:38343327-38343377	PFSK-1	brain:	n/a
9	chr19:38344455-38344505	GM19239	blood:	n/a
10	chr19:38344455-38344505	PFSK-1	brain:	n/a
11	chr19:38344455-38344505	BE2_C	brain:	n/a
12	chr19:38344455-38344505	U87	brain:	n/a
13	chr19:38343327-38343377	HPAEpiC	pulmonary alveolar:	n/a
14	chr19:38344455-38344505	AG04450	lung:	fetal
15	chr19:38343327-38343377	NB4	blood:	n/a
16	chr19:38344455-38344505	GM12878	blood:	n/a
17	chr19:38344058-38344108	SAEC	small airway:	n/a
18	chr19:38344455-38344505	NHBE	bronchial:	n/a
19	chr19:38343327-38343377	BJ	skin:	n/a
20	chr19:38343327-38343377	MCF10A-Er-Src	breast:	n/a
21	chr19:38344455-38344505	SK-N-SH	brain:	n/a
22	chr19:38343327-38343377	IMR90	lung:	fetal
23	chr19:38344058-38344108	AoSMC	blood vessel:	n/a
24	chr19:38344058-38344108	PFSK-1	brain:	n/a
25	chr19:38343327-38343377	HMEC	breast:	n/a
26	chr19:38343327-38343377	HCF	heart:	n/a
27	chr19:38343327-38343377	AG10803	skin:	n/a
28	chr19:38344058-38344108	HRPEpiC	eye:	n/a
29	chr19:38343327-38343377	HL-60	blood:	n/a
30	chr19:38344058-38344108	HAEpiC	amniotic membrane:	n/a
31	chr19:38343327-38343377	HNPCEpiC	eye:	n/a
32	chr19:38344455-38344505	GM12891	blood:	n/a
33	chr19:38344058-38344108	MCF-7	breast:	n/a
34	chr19:38343327-38343377	ECC-1	luminal epithelium:	n/a
35	chr19:38344058-38344108	AG04449	skin:	fetal
36	chr19:38343327-38343377	HEK293	kidney:	embryo
37	chr19:38344455-38344505	HepG2	liver:	n/a
38	chr19:38344058-38344108	Jurkat	blood:	n/a
39	chr19:38344455-38344505	PrEC	prostate:	n/a
40	chr19:38344455-38344505	HNPCEpiC	eye:	n/a
41	chr19:38344455-38344505	GM12892	blood:	n/a
42	chr19:38343327-38343377	PANC-1	pancreas:	n/a
43	chr19:38344058-38344108	GM12892	blood:	n/a
44	chr19:38344058-38344108	SK-N-SH_RA	brain:	n/a
45	chr19:38344058-38344108	SK-N-MC	brain:	n/a
46	chr19:38344455-38344505	Jurkat	blood:	n/a
47	chr19:38343327-38343377	GM06990	blood:	n/a
48	chr19:38343327-38343377	HepG2	liver:	n/a
49	chr19:38344455-38344505	HCPEpiC	choroid plexus:	n/a
50	chr19:38343327-38343377	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38322269..38323772-chr19:38341605..38343235,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF573-1	chr19:38343930-38344165	ENSG00000225868.2
2	lnc-ZNF573-1	chr19:38343930-38344187	ENSG00000225868.2
3	lnc-ZNF573-1	chr19:38343642-38343761	ENSG00000225868.2
4	lnc-ZNF573-1	chr19:38343642-38343761	ENSG00000225868.2
5	lnc-ZNF573-1	chr19:38343642-38343761	ENSG00000225868.2

No data

Variant related genes	Relation type
ENSG00000225868	TF binding region
ENSG00000225868	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376912641	chr19:38343686-38343687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs559874999	chr19:38343745-38343746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs534022305	chr19:38343761-38343762	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs557202209	chr19:38343943-38343944	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs575563206	chr19:38343977-38343978	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546165853	chr19:38344053-38344054	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs565136801	chr19:38344087-38344088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs564060363	chr19:38344128-38344129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs572909519	chr19:38344157-38344158	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs539927494	chr19:38344205-38344206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537717319	chr19:38344233-38344234	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs561791981	chr19:38344258-38344259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534170746	chr19:38344495-38344496	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs141669925	chr19:38344496-38344497	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No data

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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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