Variant report

Variant	rs7305180
Chromosome Location	chr12:48314935-48314936
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48313678..48315248-chr12:48316764..48318281,2	K562	blood:
2	chr12:48297279..48299319-chr12:48313008..48315115,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10747525	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875695	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10875697	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875700	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875701	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875702	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875704	0.92[CHD][hapmap]
rs10875705	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10875708	0.84[CHD][hapmap]
rs11168307	0.85[ASN][1000 genomes]
rs11168310	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11168311	0.80[EUR][1000 genomes]
rs11168313	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11168314	0.84[CHD][hapmap]
rs11168316	0.84[CHD][hapmap]
rs11168318	0.84[CHD][hapmap]
rs11568820	0.95[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11829292	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12304114	0.93[ASN][1000 genomes]
rs12306963	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12831006	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34381446	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4237855	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4254129	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334089	0.81[JPT][hapmap]
rs4402365	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4442605	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4454781	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61920869	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7136534	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.82[YRI][hapmap];0.96[ASN][1000 genomes]
rs7302235	0.83[ASN][1000 genomes]
rs7303966	0.84[CHD][hapmap];0.82[EUR][1000 genomes]
rs7308216	0.85[ASN][1000 genomes]
rs7970314	0.80[EUR][1000 genomes]
rs7976091	0.88[EUR][1000 genomes];0.80[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
rs7305180	AQP6	cis	cerebellum	SCAN
rs7305180	RAPGEF3	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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