Variant report

Variant	rs7970314
Chromosome Location	chr12:48308174-48308175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48306813..48310122-chr12:48315023..48318005,3	K562	blood:
2	chr12:48297407..48299746-chr12:48306202..48309710,3	MCF-7	breast:
3	chr12:48300486..48303147-chr12:48306990..48309895,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10083198	0.90[ASN][1000 genomes]
rs10747525	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10747527	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs10783219	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10783221	0.85[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap]
rs10875697	0.89[EUR][1000 genomes]
rs10875699	0.95[ASN][1000 genomes]
rs10875700	0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs10875701	0.90[EUR][1000 genomes]
rs10875702	0.90[EUR][1000 genomes]
rs10875703	0.82[EUR][1000 genomes]
rs11168307	0.82[EUR][1000 genomes]
rs11168308	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11568820	0.82[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11829292	0.90[EUR][1000 genomes]
rs12304110	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12316950	0.82[EUR][1000 genomes]
rs4254129	0.90[EUR][1000 genomes]
rs4402365	0.90[EUR][1000 genomes]
rs4442605	0.90[EUR][1000 genomes]
rs4454781	0.90[EUR][1000 genomes]
rs4516035	1.00[YRI][hapmap]
rs4578458	0.95[ASN][1000 genomes]
rs4578459	0.83[ASN][1000 genomes]
rs4760603	0.92[ASN][1000 genomes]
rs4760655	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4760669	0.94[ASN][1000 genomes]
rs4760670	0.83[ASN][1000 genomes]
rs4760671	1.00[YRI][hapmap]
rs6580644	0.96[ASN][1000 genomes]
rs6580645	0.83[ASN][1000 genomes]
rs7132324	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7139166	1.00[YRI][hapmap]
rs7299460	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7300088	0.81[EUR][1000 genomes]
rs7300301	0.81[EUR][1000 genomes]
rs7303966	0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs7305180	0.80[EUR][1000 genomes]
rs7308216	0.82[EUR][1000 genomes]
rs7310552	1.00[YRI][hapmap]
rs7311856	1.00[YRI][hapmap]
rs7312286	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7976091	0.84[AMR][1000 genomes];0.90[EUR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7970314	ANP32D	cis	parietal	SCAN
rs7970314	AQP6	cis	cerebellum	SCAN
rs7970314	RAPGEF3	cis	parietal	SCAN
rs7970314	C12orf54	cis	lymphoblastoid	seeQTL

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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