Variant report

Variant	rs6946459
Chromosome Location	chr7:12247520-12247521
allele	G/T
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	MAFK	chr7:12247444-12247603	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:12246346..12248475-chr7:12249160..12251216,3	K562	blood:
2	chr7:12245428..12248475-chr7:12248558..12250664,3	K562	blood:
3	chr7:12241207..12243591-chr7:12246115..12248890,3	K562	blood:

Variant related genes	Relation type
TMEM106B	TF binding region
ENSG00000106460	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10215270	1.00[CEU][hapmap]
rs10251962	1.00[CEU][hapmap]
rs10256397	1.00[CEU][hapmap]
rs10259305	1.00[CEU][hapmap]
rs10268302	1.00[CEU][hapmap]
rs10270435	1.00[CEU][hapmap]
rs10271597	1.00[CEU][hapmap]
rs10273416	1.00[CEU][hapmap]
rs1079506	1.00[CEU][hapmap]
rs11971590	1.00[CEU][hapmap]
rs12699321	0.85[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs13240394	0.86[ASN][1000 genomes]
rs13244354	0.86[CHB][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs1435530	0.85[ASN][1000 genomes]
rs17165694	0.85[ASN][1000 genomes]
rs2160268	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs28459566	0.85[EUR][1000 genomes]
rs28730406	0.86[ASN][1000 genomes]
rs6972805	1.00[CEU][hapmap]
rs72582233	0.86[ASN][1000 genomes]
rs72582234	0.86[ASN][1000 genomes]
rs72582242	0.82[EUR][1000 genomes]
rs7804053	0.87[ASN][1000 genomes]
rs954660	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1023608	chr7:12064114-12247520	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1021710	chr7:12164993-12251790	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12244800-12249800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:12247000-12249800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:12247400-12249600	Weak transcription	A549	lung

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