Variant report

Variant	rs7301266
Chromosome Location	chr12:41304663-41304664
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	chr12:41298926..41301018-chr12:41302618..41305586,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1083206	1.00[ASN][1000 genomes]
rs11178929	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11178961	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11178966	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11178968	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11178979	0.84[YRI][hapmap]
rs11178982	0.83[YRI][hapmap]
rs11179174	1.00[ASN][1000 genomes]
rs12296475	1.00[ASN][1000 genomes]
rs12297672	0.84[EUR][1000 genomes]
rs12307865	1.00[ASN][1000 genomes]
rs12314872	0.87[ASN][1000 genomes]
rs12316203	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12316567	0.84[EUR][1000 genomes]
rs12321608	0.87[ASN][1000 genomes]
rs12809837	0.87[ASN][1000 genomes]
rs12811839	0.87[ASN][1000 genomes]
rs12824182	0.87[ASN][1000 genomes]
rs13328933	1.00[ASN][1000 genomes]
rs13377827	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1442183	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442190	1.00[CHB][hapmap]
rs157126	0.87[ASN][1000 genomes]
rs17621741	0.80[YRI][hapmap]
rs1866996	1.00[ASN][1000 genomes]
rs2405509	0.87[ASN][1000 genomes]
rs278900	0.87[ASN][1000 genomes]
rs278901	0.87[ASN][1000 genomes]
rs278902	0.87[ASN][1000 genomes]
rs278903	1.00[ASN][1000 genomes]
rs278906	1.00[CHB][hapmap]
rs278914	1.00[ASN][1000 genomes]
rs280355	1.00[ASN][1000 genomes]
rs280356	0.87[ASN][1000 genomes]
rs397967	1.00[ASN][1000 genomes]
rs55653124	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59142970	0.87[ASN][1000 genomes]
rs59599863	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60409838	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61443681	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61653748	0.82[EUR][1000 genomes]
rs67249613	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693762	1.00[ASN][1000 genomes]
rs7134389	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139018	1.00[CEU][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303815	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7305416	0.87[ASN][1000 genomes]
rs7312528	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314325	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73275657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73275677	1.00[ASN][1000 genomes]
rs73275694	1.00[ASN][1000 genomes]
rs73277750	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41297200-41338600	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:41297400-41328600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:41297400-41338600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:41297400-41346400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:41301200-41316000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:41302000-41305400	Weak transcription	A549	lung
7	chr12:41302000-41305400	Weak transcription	HMEC	breast
8	chr12:41302200-41304800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:41302200-41305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:41302200-41305400	Weak transcription	NHEK	skin
11	chr12:41304000-41304800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:41304600-41304800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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