Variant report

Variant	rs8101777
Chromosome Location	chr19:51977891-51977892
allele	A/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	POLR2A	chr19:51977683-51977987	K562	blood:	n/a	n/a
2	USF2	chr19:51977834-51977900	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:51977498-51978212	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51976397..51978354-chr19:51984183..51986699,2	K562	blood:
2	chr19:51976417..51978042-chr19:51981994..51984082,2	K562	blood:

Variant related genes	Relation type
CEACAM18	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10424482	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10424572	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424804	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878257	0.87[EUR][1000 genomes]
rs11878282	0.87[EUR][1000 genomes]
rs11878388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11881105	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16982729	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs17206902	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs185254	0.86[EUR][1000 genomes]
rs2607257	0.87[EUR][1000 genomes]
rs2607258	1.00[CEU][hapmap];0.92[GIH][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs2607259	1.00[CEU][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2607260	0.86[EUR][1000 genomes]
rs28539101	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28607420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864090	0.87[EUR][1000 genomes]
rs2864091	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2864092	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2864093	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36503	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56799568	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61201251	0.89[EUR][1000 genomes]
rs62115066	0.89[EUR][1000 genomes]
rs62116369	0.87[EUR][1000 genomes]
rs62116370	0.87[EUR][1000 genomes]
rs62116371	0.87[EUR][1000 genomes]
rs62116417	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62116418	1.00[EUR][1000 genomes]
rs62116419	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62116420	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62116422	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246811	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8107537	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8101777	ZNF460	cis	parietal	SCAN
rs8101777	GALP	cis	parietal	SCAN
rs8101777	ZNF480	cis	cerebellum	SCAN

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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