Variant report

Variant	rs7712613
Chromosome Location	chr5:105595010-105595011
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10037741	0.89[ASN][1000 genomes]
rs10053772	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10054814	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10057027	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10059955	0.85[ASN][1000 genomes]
rs10067178	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10477862	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10477863	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10477864	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11242575	0.91[ASN][1000 genomes]
rs12513939	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12521315	0.90[ASN][1000 genomes]
rs12655359	0.82[ASN][1000 genomes]
rs12719552	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13167678	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13180375	0.87[ASN][1000 genomes]
rs1369344	0.85[ASN][1000 genomes]
rs1369345	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1435199	0.87[ASN][1000 genomes]
rs1435200	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865508	0.81[ASN][1000 genomes]
rs1897943	0.87[ASN][1000 genomes]
rs2043502	0.87[ASN][1000 genomes]
rs2082766	0.87[ASN][1000 genomes]
rs35726927	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4260640	0.85[ASN][1000 genomes]
rs4260641	0.85[ASN][1000 genomes]
rs4457046	0.96[ASN][1000 genomes]
rs4616869	0.90[ASN][1000 genomes]
rs4629569	0.91[ASN][1000 genomes]
rs4958056	0.82[ASN][1000 genomes]
rs62377601	0.91[ASN][1000 genomes]
rs6859823	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7721471	0.91[ASN][1000 genomes]
rs7725559	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7731914	0.87[ASN][1000 genomes]
rs7732235	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7734007	0.90[ASN][1000 genomes]
rs7734465	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285954	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882655	chr5:105308346-105663646	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv599285	chr5:105355890-106271223	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882660	chr5:105358229-105685009	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv882666	chr5:105377638-105604520	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv2756534	chr5:105427073-105772632	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1028686	chr5:105458958-105624987	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv428123	chr5:105475935-106025350	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3427509	chr5:105505316-105871362	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv462373	chr5:105507543-105795975	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv599291	chr5:105507543-105795975	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv471036	chr5:105507543-105955784	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105591400-105595400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:105591400-105595800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:105592600-105596800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:105594200-105595600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:105594400-105597000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:105594600-105596200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr5:105594800-105595400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:105594800-105596400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:105595000-105596200	Enhancers	A549	lung
10	chr5:105595000-105597800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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