Variant report

Variant	rs9304715
Chromosome Location	chr19:51977965-51977966
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	FOXA2	chr19:51977953-51979027	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:51977683-51977987	K562	blood:	n/a	n/a
3	POLR2A	chr19:51977498-51978212	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51970891..51972816-chr19:51977892..51980633,2	K562	blood:
2	chr19:51976397..51978354-chr19:51984183..51986699,2	K562	blood:
3	chr19:51976417..51978042-chr19:51981994..51984082,2	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:31)

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]
rs10414554	1.00[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]
rs10425109	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]
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[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9304716	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:11 , 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	chr19:51976600-51979200	Enhancers	HepG2	liver
4	chr19:51977000-51978000	Weak transcription	Gastric	stomach
5	chr19:51977200-51978000	Enhancers	Small Intestine	intestine
6	chr19:51977200-51978400	Enhancers	Duodenum Mucosa	Duodenum
7	chr19:51977800-51978000	Enhancers	A549	lung
8	chr19:51977800-51978000	Enhancers	K562	blood
9	chr19:51977800-51978400	Flanking Active TSS	Stomach Mucosa	stomach
10	chr19:51977800-51978400	Enhancers	HMEC	breast
11	chr19:51977800-51978600	Enhancers	HUVEC	blood vessel

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