Variant report

Variant	rs1156446
Chromosome Location	chr14:70505563-70505564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70497570..70499518-chr14:70502839..70505709,2	MCF-7	breast:
2	chr14:70496489..70498321-chr14:70503496..70506158,2	MCF-7	breast:
3	chr14:70505048..70507568-chr14:70516082..70518702,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1005543	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1156443	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12101270	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs12885068	0.88[CEU][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes]
rs12887943	0.88[CEU][hapmap];0.81[AMR][1000 genomes]
rs12890357	0.81[AMR][1000 genomes]
rs17107547	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs17107635	0.86[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17107637	0.91[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17107651	0.91[CHB][hapmap];0.91[CHD][hapmap];0.89[MEX][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1998334	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs227402	0.81[CHD][hapmap]
rs227437	0.83[CEU][hapmap]
rs2281663	0.89[CHD][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs34311408	0.81[AMR][1000 genomes]
rs3742912	0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.89[MEX][hapmap];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3825739	0.88[CEU][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes]
rs55784307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56029860	0.92[ASN][1000 genomes]
rs56242824	0.81[AMR][1000 genomes]
rs57609901	0.81[AMR][1000 genomes]
rs67294558	0.81[AMR][1000 genomes]
rs72728002	0.83[AMR][1000 genomes]
rs72729803	0.83[AMR][1000 genomes]
rs72729808	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8010305	0.86[CHD][hapmap]
rs8016522	0.89[CHD][hapmap];0.83[JPT][hapmap];0.81[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1156446	KIAA0247	cis	cerebellum	SCAN
rs1156446	SMOC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70497400-70508400	Weak transcription	Fetal Brain Female	brain
2	chr14:70500400-70512800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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