Variant report

Variant	rs62117444
Chromosome Location	chr19:41619850-41619851
allele	C/T
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	chr19:41619850-41619900	GM19239	blood:	n/a
2	chr19:41619850-41619900	HCM	heart:	n/a
3	chr19:41619850-41619900	HIPEpiC	eye:	n/a
4	chr19:41619850-41619900	Jurkat	blood:	n/a
5	chr19:41619850-41619900	HEK293	kidney:	embryo
6	chr19:41619850-41619900	GM12878	blood:	n/a
7	chr19:41619850-41619900	HEEpiC	esophagus:	n/a
8	chr19:41619850-41619900	MCF-7	breast:	n/a
9	chr19:41619850-41619900	GM12891	blood:	n/a
10	chr19:41619850-41619900	A549	lung:	n/a
11	chr19:41619850-41619900	CMK	blood:	n/a
12	chr19:41619850-41619900	NB4	blood:	n/a
13	chr19:41619850-41619900	U87	brain:	n/a
14	chr19:41619850-41619900	Hepatocyte	liver:	n/a
15	chr19:41619850-41619900	AG04450	lung:	fetal
16	chr19:41619850-41619900	PFSK-1	brain:	n/a
17	chr19:41619850-41619900	SK-N-SH	brain:	n/a
18	chr19:41619850-41619900	PrEC	prostate:	n/a
19	chr19:41619850-41619900	SKMC	muscle:	n/a
20	chr19:41619850-41619900	AG09309	skin:	n/a
21	chr19:41619850-41619900	HMEC	breast:	n/a
22	chr19:41619850-41619900	K562	blood:	n/a
23	chr19:41619850-41619900	GM12892	blood:	n/a
24	chr19:41619850-41619900	HRCEpiC	kidney:	n/a
25	chr19:41619850-41619900	SAEC	small airway:	n/a
26	chr19:41619850-41619900	AG09319	gingival:	n/a
27	chr19:41619850-41619900	LNCaP	prostate:	n/a
28	chr19:41619850-41619900	HCT-116	colon:	n/a
29	chr19:41619850-41619900	HRPEpiC	eye:	n/a
30	chr19:41619850-41619900	IMR90	lung:	fetal
31	chr19:41619850-41619900	HPAEpiC	pulmonary alveolar:	n/a
32	chr19:41619850-41619900	HepG2	liver:	n/a
33	chr19:41619850-41619900	Caco-2	colon:	n/a
34	chr19:41619850-41619900	AoSMC	blood vessel:	n/a
35	chr19:41619850-41619900	AG04449	skin:	fetal
36	chr19:41619850-41619900	ProgFib	skin:	n/a
37	chr19:41619850-41619900	HCPEpiC	choroid plexus:	n/a
38	chr19:41619850-41619900	HRE	kidney:	n/a
39	chr19:41619850-41619900	NH-A	brain:	n/a
40	chr19:41619850-41619900	HL-60	blood:	n/a
41	chr19:41619850-41619900	AG10803	skin:	n/a
42	chr19:41619850-41619900	HUVEC	blood vessel:	n/a
43	chr19:41619850-41619900	NHBE	bronchial:	n/a
44	chr19:41619850-41619900	Hela-S3	cervix:	n/a
45	chr19:41619850-41619900	PANC-1	pancreas:	n/a
46	chr19:41619850-41619900	HAEpiC	amniotic membrane:	n/a
47	chr19:41619850-41619900	BE2_C	brain:	n/a
48	chr19:41619850-41619900	H1-hESC	embryonic stem cell:	embryo
49	chr19:41619850-41619900	RPTEC	kidney:	n/a
50	chr19:41619850-41619900	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41254906..41257408-chr19:41618440..41620283,2	MCF-7	breast:

No data

Variant related genes	Relation type
CYP2F1	CpG island
ENSG00000188493	Chromatin interaction
ENSG00000077312	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1645696	0.93[EUR][1000 genomes]
rs1645709	0.98[EUR][1000 genomes]
rs1645712	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1709081	0.84[EUR][1000 genomes]
rs1709082	0.82[EUR][1000 genomes]
rs1709083	0.88[EUR][1000 genomes]
rs1709084	0.93[EUR][1000 genomes]
rs1709085	0.93[EUR][1000 genomes]
rs1709114	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1709115	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17713907	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs184247	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2458636	1.00[EUR][1000 genomes]
rs2458638	1.00[EUR][1000 genomes]
rs2548792	0.98[EUR][1000 genomes]
rs28447222	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs305991	0.85[EUR][1000 genomes]
rs305993	0.85[EUR][1000 genomes]
rs305997	0.83[EUR][1000 genomes]
rs305999	0.85[EUR][1000 genomes]
rs62117384	1.00[ASN][1000 genomes]
rs62117407	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62117409	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62117410	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62117438	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62117442	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62117443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62117446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246981	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192786	0.87[EUR][1000 genomes]
rs9917112	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065684	chr19:41516389-41644542	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41618600-41620600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:41618800-41620200	Enhancers	Esophagus	oesophagus

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