Variant report

Variant	nsv523693
Chromosome Location	chr19:44955927-44957508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44956065-44956115	CMK	blood:	n/a
2	chr19:44956065-44956115	Hela-S3	cervix:	n/a
3	chr19:44956065-44956115	Hepatocyte	liver:	n/a
4	chr19:44956065-44956115	HCF	heart:	n/a
5	chr19:44956065-44956115	SAEC	small airway:	n/a
6	chr19:44956065-44956115	AG04449	skin:	fetal
7	chr19:44956065-44956115	MCF-7	breast:	n/a
8	chr19:44956065-44956115	HIPEpiC	eye:	n/a
9	chr19:44956065-44956115	GM12891	blood:	n/a
10	chr19:44956065-44956115	U87	brain:	n/a
11	chr19:44956065-44956115	AG10803	skin:	n/a
12	chr19:44956065-44956115	MCF10A-Er-Src	breast:	n/a
13	chr19:44956065-44956115	SKMC	muscle:	n/a
14	chr19:44956065-44956115	PANC-1	pancreas:	n/a
15	chr19:44956065-44956115	GM12878	blood:	n/a
16	chr19:44956065-44956115	BE2_C	brain:	n/a
17	chr19:44956065-44956115	K562	blood:	n/a
18	chr19:44956065-44956115	SK-N-MC	brain:	n/a
19	chr19:44956065-44956115	HEEpiC	esophagus:	n/a
20	chr19:44956065-44956115	ECC-1	luminal epithelium:	n/a
21	chr19:44956065-44956115	PFSK-1	brain:	n/a
22	chr19:44956065-44956115	NB4	blood:	n/a
23	chr19:44956065-44956115	AoSMC	blood vessel:	n/a
24	chr19:44956065-44956115	NT2-D1	testis:	n/a
25	chr19:44956065-44956115	GM19239	blood:	n/a
26	chr19:44956065-44956115	HL-60	blood:	n/a
27	chr19:44956065-44956115	Jurkat	blood:	n/a
28	chr19:44956065-44956115	AG04450	lung:	fetal
29	chr19:44956065-44956115	Caco-2	colon:	n/a
30	chr19:44956065-44956115	HCM	heart:	n/a
31	chr19:44956065-44956115	HRPEpiC	eye:	n/a
32	chr19:44956065-44956115	HCT-116	colon:	n/a
33	chr19:44956065-44956115	HUVEC	blood vessel:	n/a
34	chr19:44956065-44956115	RPTEC	kidney:	n/a
35	chr19:44956065-44956115	HepG2	liver:	n/a
36	chr19:44956065-44956115	SK-N-SH_RA	brain:	n/a
37	chr19:44956065-44956115	HAEpiC	amniotic membrane:	n/a
38	chr19:44956065-44956115	HEK293	kidney:	embryo
39	chr19:44956065-44956115	GM06990	blood:	n/a
40	chr19:44956065-44956115	AG09309	skin:	n/a
41	chr19:44956065-44956115	PrEC	prostate:	n/a
42	chr19:44956065-44956115	GM12892	blood:	n/a
43	chr19:44956065-44956115	NH-A	brain:	n/a
44	chr19:44956065-44956115	NHBE	bronchial:	n/a
45	chr19:44956065-44956115	BJ	skin:	n/a
46	chr19:44956065-44956115	LNCaP	prostate:	n/a
47	chr19:44956065-44956115	ProgFib	skin:	n/a
48	chr19:44956065-44956115	H1-hESC	embryonic stem cell:	embryo
49	chr19:44956065-44956115	HCPEpiC	choroid plexus:	n/a
50	chr19:44956065-44956115	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44951129..44953008-chr19:44953398..44957398,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267188	CpG island
ZNF229	CpG island
ENSG00000167383	chromatin interactions
ENSG00000267188	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs204538	chr19:44955927-44955928	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367718058	chr19:44955957-44955958	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575239694	chr19:44955959-44955960	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544112991	chr19:44955964-44955965	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563574237	chr19:44955984-44955985	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577164831	chr19:44955998-44955999	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187341647	chr19:44956012-44956013	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559806901	chr19:44956017-44956018	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs192063191	chr19:44956024-44956025	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs204537	chr19:44956025-44956026	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs560724455	chr19:44956029-44956030	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529969678	chr19:44956051-44956052	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs7246885	chr19:44956058-44956059	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569805384	chr19:44956098-44956099	ZNF genes & repeats	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs116168949	chr19:44956226-44956227	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs204536	chr19:44956273-44956274	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182731805	chr19:44956357-44956358	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565805591	chr19:44956368-44956369	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534685300	chr19:44956379-44956380	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs115727008	chr19:44956460-44956461	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576783369	chr19:44956488-44956489	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs575077056	chr19:44956490-44956491	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546460576	chr19:44956493-44956494	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs537392432	chr19:44956577-44956578	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187507852	chr19:44956689-44956690	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577424534	chr19:44956726-44956727	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs367820685	chr19:44956735-44956736	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs114148767	chr19:44956744-44956745	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559457851	chr19:44956769-44956770	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs573025887	chr19:44956776-44956777	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs568203014	chr19:44956783-44956784	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs74689654	chr19:44956823-44956824	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560787297	chr19:44956830-44956831	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs80351479	chr19:44956834-44956835	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374727194	chr19:44956842-44956843	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375219675	chr19:44956906-44956907	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs543214718	chr19:44956924-44956925	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs189908604	chr19:44956937-44956938	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532280517	chr19:44956943-44956944	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs182524517	chr19:44956958-44956959	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs142501303	chr19:44956997-44956998	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs150938254	chr19:44957024-44957025	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs115015251	chr19:44957035-44957036	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs204535	chr19:44957037-44957038	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141979822	chr19:44957051-44957052	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs187182815	chr19:44957059-44957060	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs204534	chr19:44957075-44957076	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539719371	chr19:44957083-44957084	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs144267413	chr19:44957115-44957116	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192147563	chr19:44957119-44957120	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
2	chr19:44953000-44956000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:44955200-44956600	ZNF genes & repeats	Pancreas	Pancrea
4	chr19:44955200-44957200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:44955200-44959800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:44956000-44957000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:44956400-44957400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links