Variant report

Variant	rs17652383
Chromosome Location	chr12:60332365-60332366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10506402	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877354	0.85[ASN][1000 genomes]
rs10877375	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10877377	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10877380	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10877381	0.83[AFR][1000 genomes]
rs11173204	0.85[ASN][1000 genomes]
rs11173215	0.85[ASN][1000 genomes]
rs11173236	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11173239	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12821724	0.83[AFR][1000 genomes]
rs17573719	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34176957	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35268638	0.81[EUR][1000 genomes]
rs35680591	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4131145	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4237796	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4350394	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4403831	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4584615	0.85[ASN][1000 genomes]
rs4758722	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4758864	0.85[ASN][1000 genomes]
rs61922903	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6581288	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7956399	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960810	0.80[EUR][1000 genomes]
rs7960981	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7973587	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8181676	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9645804	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2751107	chr12:60252000-60353533	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv826393	chr12:60293625-60359283	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60330800-60333400	Enhancers	Fetal Heart	heart
2	chr12:60331400-60332600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr12:60331400-60332600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:60331400-60334400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:60331600-60332600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:60331800-60333200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:60332000-60332400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:60332000-60332600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:60332000-60332600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:60332200-60332400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr12:60332200-60332600	Flanking Active TSS	A549	lung
12	chr12:60332200-60333600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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