Variant report

Variant	rs4760670
Chromosome Location	chr12:48319613-48319614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48303456..48306045-chr12:48319476..48321750,3	MCF-7	breast:
2	chr12:48116185..48118625-chr12:48317978..48320277,2	K562	blood:
3	chr12:48318671..48321191-chr12:48325244..48327910,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10747527	0.86[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783219	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10783221	0.91[CHB][hapmap];0.86[CHD][hapmap];0.80[ASN][1000 genomes]
rs10875699	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11168308	0.92[ASN][1000 genomes]
rs11568820	0.87[JPT][hapmap]
rs4237855	0.83[JPT][hapmap];0.87[MEX][hapmap]
rs4334089	0.83[JPT][hapmap]
rs4578458	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4578459	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760603	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4760655	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4760669	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4760672	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580644	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6580645	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132324	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7299460	0.85[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7312286	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7970314	0.85[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4760670	RACGAP1P	cis	parietal	SCAN
rs4760670	ANP32D	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48318800-48323000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:48319400-48320000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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