Variant report

Variant	rs62115066
Chromosome Location	chr19:51980020-51980021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51979274-51980888	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51970891..51972816-chr19:51977892..51980633,2	K562	blood:
2	chr19:51971316..51973681-chr19:51979133..51981319,3	K562	blood:

Variant related genes	Relation type
CEACAM18	TF binding region
ENSG00000268957	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10424482	0.89[EUR][1000 genomes]
rs10424572	1.00[EUR][1000 genomes]
rs10424783	0.89[EUR][1000 genomes]
rs10424804	0.89[EUR][1000 genomes]
rs11878257	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11878282	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11878388	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881105	0.92[EUR][1000 genomes]
rs16982729	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16982732	0.81[ASN][1000 genomes]
rs17206902	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs185254	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2607257	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2607258	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2607259	0.98[EUR][1000 genomes]
rs2607260	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28539101	0.98[EUR][1000 genomes]
rs28607420	0.89[EUR][1000 genomes]
rs2864090	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2864091	0.98[EUR][1000 genomes]
rs2864092	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2864093	0.98[EUR][1000 genomes]
rs36503	0.97[EUR][1000 genomes]
rs56799568	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61201251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116369	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62116370	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62116371	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62116417	1.00[EUR][1000 genomes]
rs62116418	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62116419	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62116420	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62116422	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246811	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101768	0.85[AFR][1000 genomes]
rs8101777	0.89[EUR][1000 genomes]
rs8107537	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51975800-51981600	Enhancers	Fetal Intestine Small	intestine
2	chr19:51975800-51981800	Enhancers	Fetal Intestine Large	intestine
3	chr19:51978000-51980400	Weak transcription	K562	blood
4	chr19:51978400-51981400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr19:51979200-51982000	Weak transcription	HepG2	liver
6	chr19:51979600-51981800	Weak transcription	Stomach Mucosa	stomach

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