Variant report

Variant	rs3749374
Chromosome Location	chr3:22422856-22422857
allele	A/G
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:0)
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	chr3:22422855-22422905	SAEC	small airway:	n/a
2	chr3:22422855-22422905	ProgFib	skin:	n/a
3	chr3:22422855-22422905	A549	lung:	n/a
4	chr3:22422855-22422905	IMR90	lung:	fetal
5	chr3:22422855-22422905	HEK293	kidney:	embryo
6	chr3:22422855-22422905	MCF-7	breast:	n/a
7	chr3:22422855-22422905	GM12891	blood:	n/a
8	chr3:22422855-22422905	AG04449	skin:	fetal
9	chr3:22422855-22422905	AG04450	lung:	fetal
10	chr3:22422855-22422905	MCF10A-Er-Src	breast:	n/a
11	chr3:22422855-22422905	Jurkat	blood:	n/a
12	chr3:22422855-22422905	RPTEC	kidney:	n/a
13	chr3:22422855-22422905	GM12878	blood:	n/a
14	chr3:22422855-22422905	LNCaP	prostate:	n/a
15	chr3:22422855-22422905	HEEpiC	esophagus:	n/a
16	chr3:22422855-22422905	HCF	heart:	n/a
17	chr3:22422855-22422905	BJ	skin:	n/a
18	chr3:22422855-22422905	BE2_C	brain:	n/a
19	chr3:22422855-22422905	HUVEC	blood vessel:	n/a
20	chr3:22422855-22422905	HRE	kidney:	n/a
21	chr3:22422855-22422905	HIPEpiC	eye:	n/a
22	chr3:22422855-22422905	HCM	heart:	n/a
23	chr3:22422855-22422905	CMK	blood:	n/a
24	chr3:22422855-22422905	NT2-D1	testis:	n/a
25	chr3:22422855-22422905	HPAEpiC	pulmonary alveolar:	n/a
26	chr3:22422855-22422905	GM19239	blood:	n/a
27	chr3:22422855-22422905	HRPEpiC	eye:	n/a
28	chr3:22422855-22422905	T-47D	breast:	n/a
29	chr3:22422855-22422905	Caco-2	colon:	n/a
30	chr3:22422855-22422905	HAEpiC	amniotic membrane:	n/a
31	chr3:22422855-22422905	PFSK-1	brain:	n/a
32	chr3:22422855-22422905	U87	brain:	n/a
33	chr3:22422855-22422905	NHBE	bronchial:	n/a
34	chr3:22422855-22422905	GM12892	blood:	n/a
35	chr3:22422855-22422905	Hela-S3	cervix:	n/a
36	chr3:22422855-22422905	AoSMC	blood vessel:	n/a
37	chr3:22422855-22422905	PANC-1	pancreas:	n/a
38	chr3:22422855-22422905	SK-N-SH	brain:	n/a
39	chr3:22422855-22422905	SKMC	muscle:	n/a
40	chr3:22422855-22422905	GM06990	blood:	n/a
41	chr3:22422855-22422905	HL-60	blood:	n/a
42	chr3:22422855-22422905	AG10803	skin:	n/a
43	chr3:22422855-22422905	NB4	blood:	n/a
44	chr3:22422855-22422905	HCT-116	colon:	n/a
45	chr3:22422855-22422905	PrEC	prostate:	n/a
46	chr3:22422855-22422905	SK-N-SH_RA	brain:	n/a
47	chr3:22422855-22422905	HCPEpiC	choroid plexus:	n/a
48	chr3:22422855-22422905	HRCEpiC	kidney:	n/a
49	chr3:22422855-22422905	HNPCEpiC	eye:	n/a
50	chr3:22422855-22422905	HepG2	liver:	n/a

No data

Variant related genes	Relation type
HMGB1P5	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11129067	0.88[MEX][hapmap]
rs1121249	0.83[GIH][hapmap]
rs11709549	0.84[EUR][1000 genomes]
rs11710808	0.85[CEU][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap]
rs1603023	0.83[GIH][hapmap]
rs3749375	0.88[LWK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs3762776	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap]
rs3762777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3762778	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858402	0.83[GIH][hapmap]
rs6769705	0.81[CEU][hapmap];0.84[TSI][hapmap]
rs7614013	0.84[CEU][hapmap]
rs7616332	0.81[CEU][hapmap]
rs7616503	0.85[CEU][hapmap]
rs7619731	0.85[CEU][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap]
rs7624127	0.84[CEU][hapmap]
rs9811913	0.82[CEU][hapmap]
rs9820419	0.95[EUR][1000 genomes]
rs9844836	0.81[EUR][1000 genomes]
rs9844916	0.83[CEU][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs9845451	0.81[EUR][1000 genomes]
rs9845488	0.81[EUR][1000 genomes]
rs9876850	0.81[EUR][1000 genomes]
rs9882764	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432404	chr3:22000296-22433396	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003211	chr3:22244883-22584229	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536520	chr3:22244883-22584229	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv428082	chr3:22397625-22539817	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv834634	chr3:22420053-22574021	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv965148	chr3:22421613-22424357	Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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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