Variant report

Variant	rs10414554
Chromosome Location	chr19:51979647-51979648
allele	C/G
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	EP300	chr19:51979549-51979695	K562	blood:	n/a	n/a
2	POLR2A	chr19:51978222-51980018	K562	blood:	n/a	n/a
3	RCOR1	chr19:51979542-51979787	K562	blood:	n/a	n/a
4	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: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10411438	0.83[ASN][1000 genomes]
rs10412866	0.88[ASN][1000 genomes]
rs10413005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10413139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10413254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10413469	0.83[ASN][1000 genomes]
rs10413560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10413645	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10414851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10415519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10420912	0.84[AFR][1000 genomes]
rs10422460	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10424572	1.00[JPT][hapmap]
rs10425109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10425569	1.00[AFR][1000 genomes]
rs12327789	0.83[ASN][1000 genomes]
rs12327792	0.83[ASN][1000 genomes]
rs12327796	0.83[ASN][1000 genomes]
rs12327808	0.83[ASN][1000 genomes]
rs28444450	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3890434	1.00[JPT][hapmap]
rs4267441	0.83[ASN][1000 genomes]
rs57906214	0.88[ASN][1000 genomes]
rs61701460	0.88[ASN][1000 genomes]
rs62115078	0.83[ASN][1000 genomes]
rs62115079	0.83[ASN][1000 genomes]
rs62115080	0.83[ASN][1000 genomes]
rs62116163	0.83[ASN][1000 genomes]
rs726763	0.83[ASN][1000 genomes]
rs9304713	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9304714	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9304715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9304716	1.00[YRI][hapmap];1.00[AFR][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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