Variant report

Variant	rs7997596
Chromosome Location	chr13:55157255-55157256
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11840450	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1382461	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1478653	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2153713	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2185642	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2409105	0.81[EUR][1000 genomes]
rs56155509	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61950895	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7318092	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7318471	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7327684	0.83[AMR][1000 genomes]
rs7328327	0.80[EUR][1000 genomes]
rs7337743	0.81[EUR][1000 genomes]
rs7994187	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9316739	0.83[EUR][1000 genomes]
rs9527228	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9527231	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9527232	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9527233	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9527237	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9527240	0.81[EUR][1000 genomes]
rs9527242	0.80[EUR][1000 genomes]
rs9536767	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9536768	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9536769	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9536774	0.91[ASN][1000 genomes]
rs9536775	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9536778	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9536790	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349795	chr13:54892694-55252030	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv917186	chr13:55022134-55433232	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv561702	chr13:55086271-55808127	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1043044	chr13:55102831-55285581	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1048599	chr13:55143426-55476042	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1051640	chr13:55143426-55478547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv561703	chr13:55143754-55473732	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv916104	chr13:55154006-55433232	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr13:55146000-55167000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:55146800-55160000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:55148000-55159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:55149400-55160400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:55155600-55158200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:55155800-55158200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:55156200-55158600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:55156400-55158200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr13:55157200-55158200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr13:55157200-55160400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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