Variant report

Variant	rs12699322
Chromosome Location	chr7:12247273-12247274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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
ENSG00000106460	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1020007	0.83[EUR][1000 genomes]
rs10281777	0.88[EUR][1000 genomes]
rs1042946	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12699316	0.94[AMR][1000 genomes]
rs12699317	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12699318	0.85[EUR][1000 genomes]
rs12699319	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12699321	0.82[CEU][hapmap]
rs12699325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12699326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12699334	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12699337	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12699339	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12699340	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12699341	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12699343	0.89[EUR][1000 genomes]
rs12699344	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12699347	0.82[EUR][1000 genomes]
rs12699348	0.85[EUR][1000 genomes]
rs12699351	0.85[EUR][1000 genomes]
rs12699356	0.82[EUR][1000 genomes]
rs12699357	0.82[EUR][1000 genomes]
rs12699358	0.82[EUR][1000 genomes]
rs12699359	0.82[EUR][1000 genomes]
rs12699361	0.83[EUR][1000 genomes]
rs13221483	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13221595	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13222858	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13223216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13223381	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13227133	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13228832	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13229277	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13233991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13234238	0.85[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13236057	0.83[AMR][1000 genomes]
rs13244354	0.85[CEU][hapmap]
rs13245483	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13246024	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13246340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13309255	0.85[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13311466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34167422	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34201361	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35390376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35560707	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36104470	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71529336	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71529343	0.82[EUR][1000 genomes]
rs7799766	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

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	chr7:12247200-12247400	Enhancers	A549	lung

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