Variant report

Variant	rs7998344
Chromosome Location	chr13:91625722-91625723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:91624778..91626545-chr13:91641725..91644502,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10507989	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1335558	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17636727	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4255647	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4288865	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4341636	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492514	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6492519	0.85[MEX][hapmap]
rs72633860	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7318850	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325495	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7330260	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7332724	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338251	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7338352	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7985642	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9301701	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9301702	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9515855	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9515867	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9523178	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9523179	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9523194	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9523199	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9523207	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9523227	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9523228	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9560716	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9560719	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9560721	0.82[ASN][1000 genomes]
rs9560723	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9560724	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9560748	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948709	chr13:90753085-91745571	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv932206	chr13:91370888-91878374	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
4	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
5	nsv900878	chr13:91619133-91717352	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv900879	chr13:91619133-91726884	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv900880	chr13:91625722-91848290	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91625200-91626200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr13:91625200-91626800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:91625400-91625800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:91625400-91626400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr13:91625400-91628600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr13:91625600-91626200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:91625600-91626400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr13:91625600-91626400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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