Variant report

Variant	rs17806643
Chromosome Location	chr12:104558085-104558086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104545972..104549947-chr12:104555023..104560302,4	K562	blood:
2	chr12:104534094..104536721-chr12:104557947..104560428,2	MCF-7	breast:
3	chr12:104553666..104555639-chr12:104557708..104559504,2	K562	blood:
4	chr12:104542011..104544016-chr12:104556575..104558622,2	MCF-7	breast:
5	chr12:104556259..104558196-chr12:104560422..104562244,2	K562	blood:
6	chr12:104531056..104533803-chr12:104557719..104561243,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10507174	0.82[CHD][hapmap]
rs10778309	0.81[CHD][hapmap]
rs10861169	0.81[CHB][hapmap]
rs11111916	0.80[MEX][hapmap]
rs11111917	0.85[MEX][hapmap]
rs11836627	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11836726	0.85[MEX][hapmap]
rs11838277	0.81[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12427339	0.82[CHD][hapmap]
rs17035201	0.86[LWK][hapmap];0.90[YRI][hapmap]
rs17035253	0.93[AFR][1000 genomes]
rs17035296	0.81[AFR][1000 genomes]
rs17192854	0.82[CHD][hapmap]
rs17807362	1.00[LWK][hapmap];0.90[YRI][hapmap]
rs35861067	0.85[AFR][1000 genomes]
rs3850022	0.86[CHD][hapmap];0.89[MEX][hapmap]
rs4131750	0.82[CHD][hapmap]
rs4475991	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs4614534	0.81[GIH][hapmap]
rs4964627	0.90[JPT][hapmap]
rs56074043	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57381687	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7313063	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs73392529	0.88[AFR][1000 genomes]
rs73392542	0.93[AFR][1000 genomes]
rs7957723	0.88[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes]
rs7957725	0.90[JPT][hapmap]
rs7979648	0.83[CEU][hapmap];0.86[CHD][hapmap];0.88[AMR][1000 genomes];0.83[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	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1836100	chr12:104531180-104558476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
4	esv1836581	chr12:104531180-104558476	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
6	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104533000-104560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:104558000-104558800	Enhancers	Cortex derived primary cultured neurospheres	brain

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