Variant report

Variant	rs12521315
Chromosome Location	chr5:105595873-105595874
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10037741	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10053772	0.93[ASN][1000 genomes]
rs10054814	0.86[ASN][1000 genomes]
rs10057027	0.92[ASN][1000 genomes]
rs10067178	0.92[ASN][1000 genomes]
rs10463575	0.82[ASN][1000 genomes]
rs10477862	0.87[ASN][1000 genomes]
rs10477863	0.87[ASN][1000 genomes]
rs10477864	0.88[ASN][1000 genomes]
rs11242570	0.82[ASN][1000 genomes]
rs11242575	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12513939	0.89[ASN][1000 genomes]
rs12655354	0.83[ASN][1000 genomes]
rs12655359	0.88[ASN][1000 genomes]
rs12658064	0.84[ASN][1000 genomes]
rs12719552	0.93[ASN][1000 genomes]
rs13167678	0.93[ASN][1000 genomes]
rs1347404	0.84[ASN][1000 genomes]
rs1369345	0.89[ASN][1000 genomes]
rs1435194	0.84[ASN][1000 genomes]
rs1435200	0.93[ASN][1000 genomes]
rs1897942	0.84[ASN][1000 genomes]
rs35726927	0.88[ASN][1000 genomes]
rs4457046	0.86[ASN][1000 genomes]
rs4616869	0.84[ASN][1000 genomes]
rs4629569	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4957922	0.84[ASN][1000 genomes]
rs4958056	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56219720	0.81[ASN][1000 genomes]
rs62377560	0.83[ASN][1000 genomes]
rs62377601	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7708750	0.82[ASN][1000 genomes]
rs7712613	0.90[ASN][1000 genomes]
rs7721471	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7725559	0.81[ASN][1000 genomes]
rs7732235	0.87[ASN][1000 genomes]
rs7734007	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7734465	0.90[ASN][1000 genomes]
rs9285954	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	chr5:105592600-105596800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:105594400-105597000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:105594600-105596200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr5:105594800-105596400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:105595000-105596200	Enhancers	A549	lung
6	chr5:105595000-105597800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:105595400-105596400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:105595400-105596400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:105595600-105596800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:105595800-105596400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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