Variant report

Variant	rs10424482
Chromosome Location	chr19:51977040-51977041
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	CTCF	chr19:51976900-51977050	GM12873	blood:	n/a	n/a
2	POLR2A	chr19:51976159-51977200	K562	blood:	n/a	n/a
3	POLR2A	chr19:51976690-51977298	K562	blood:	n/a	n/a
4	CTCF	chr19:51976940-51977090	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51975913..51977254-chr19:52159906..52161263,12	MCF-7	breast:
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

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10424572	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10424783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10424804	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11878257	0.87[EUR][1000 genomes]
rs11878282	0.87[EUR][1000 genomes]
rs11878388	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11881105	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16982729	0.89[EUR][1000 genomes]
rs17206902	0.87[EUR][1000 genomes]
rs185254	0.86[EUR][1000 genomes]
rs2607257	0.87[EUR][1000 genomes]
rs2607258	0.87[EUR][1000 genomes]
rs2607259	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2607260	0.86[EUR][1000 genomes]
rs28539101	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28607420	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2864090	0.87[EUR][1000 genomes]
rs2864091	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2864092	0.87[EUR][1000 genomes]
rs2864093	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36503	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56799568	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[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	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62116418	1.00[EUR][1000 genomes]
rs62116419	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62116420	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62116422	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246811	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8101777	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8107537	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[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

No data

Chromatin state (count:9 , 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	chr19:51976000-51977400	Genic enhancers	K562	blood
4	chr19:51976600-51979200	Enhancers	HepG2	liver
5	chr19:51976800-51977200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr19:51977000-51977200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr19:51977000-51977200	Bivalent Enhancer	Small Intestine	intestine
8	chr19:51977000-51977800	Enhancers	Stomach Mucosa	stomach
9	chr19:51977000-51978000	Weak transcription	Gastric	stomach

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