Variant report

Variant	rs7304070
Chromosome Location	chr12:30459429-30459430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30448261..30450995-chr12:30458439..30460562,2	K562	blood:

Variant related genes	Relation type
ENSG00000257756	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10843690	0.85[EUR][1000 genomes]
rs11050794	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11050808	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050823	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11050826	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11050828	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11513492	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11608277	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11612317	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11613370	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11613642	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614392	0.93[EUR][1000 genomes]
rs12424369	0.85[EUR][1000 genomes]
rs12425538	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs12815231	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12823889	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12826074	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12831890	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1429628	0.85[EUR][1000 genomes]
rs1652182	0.95[EUR][1000 genomes]
rs1731489	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1896909	0.92[CEU][hapmap];0.97[GIH][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs2010880	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34300913	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35004835	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs354136	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61920761	0.85[EUR][1000 genomes]
rs6487894	0.85[EUR][1000 genomes]
rs6487895	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6487896	0.84[EUR][1000 genomes]
rs6487897	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs725063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295282	0.85[EUR][1000 genomes]
rs7296820	0.85[EUR][1000 genomes]
rs7298770	0.85[EUR][1000 genomes]
rs7303893	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7313186	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7314209	0.88[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955178	0.85[EUR][1000 genomes]
rs7964943	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7978437	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs891318	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517916	chr12:30454845-30485611	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv8937	chr12:30457162-30462498	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7304070	HCK	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30458400-30460800	Enhancers	Placenta	Placenta
2	chr12:30459200-30461600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links