Variant report

Variant	rs12479017
Chromosome Location	chr2:48411763-48411764
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48375584..48378274-chr2:48411231..48413215,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10197197	0.90[EUR][1000 genomes]
rs11678411	0.89[EUR][1000 genomes]
rs11695011	0.98[ASN][1000 genomes]
rs11899562	1.00[ASN][1000 genomes]
rs12469811	0.86[ASN][1000 genomes]
rs12621844	0.98[ASN][1000 genomes]
rs1546470	0.89[EUR][1000 genomes]
rs1546471	0.82[EUR][1000 genomes]
rs1567397	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2175138	0.83[ASN][1000 genomes]
rs2348719	0.98[ASN][1000 genomes]
rs2348720	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2348723	0.88[EUR][1000 genomes]
rs4375916	0.89[EUR][1000 genomes]
rs4953559	0.98[ASN][1000 genomes]
rs4953560	0.98[ASN][1000 genomes]
rs4953561	0.98[ASN][1000 genomes]
rs62137435	0.91[EUR][1000 genomes]
rs6705995	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6742830	0.86[EUR][1000 genomes]
rs7569620	0.90[EUR][1000 genomes]
rs7578930	0.91[EUR][1000 genomes]
rs7589085	0.90[EUR][1000 genomes]
rs7596628	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883795	0.84[ASN][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	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48403800-48414200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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