Variant report

Variant	rs4382947
Chromosome Location	chr12:60475057-60475058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:60471895..60473733-chr12:60474074..60477071,2	MCF-7	breast:
2	chr12:60473802..60475803-chr12:60480234..60482937,2	MCF-7	breast:
3	chr12:60472741..60475079-chr12:60479250..60481071,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10877392	0.82[ASN][1000 genomes]
rs11173327	0.88[AFR][1000 genomes]
rs11173329	0.82[AFR][1000 genomes]
rs11173367	0.84[JPT][hapmap]
rs12227514	0.89[JPT][hapmap]
rs12230817	0.85[AFR][1000 genomes]
rs1493325	0.81[AFR][1000 genomes]
rs17595325	0.91[ASW][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.81[LWK][hapmap];0.89[YRI][hapmap]
rs17665306	0.91[ASW][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap]
rs4758743	0.88[AFR][1000 genomes]
rs61127975	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61922947	0.84[ASN][1000 genomes]
rs61922949	0.84[ASN][1000 genomes]
rs61922950	0.84[ASN][1000 genomes]
rs61925366	0.84[AFR][1000 genomes]
rs66587505	0.84[AFR][1000 genomes]
rs7310323	0.84[ASN][1000 genomes]
rs7314355	0.84[ASN][1000 genomes]
rs7977642	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7979069	0.84[ASN][1000 genomes]
rs8181648	0.88[JPT][hapmap];0.95[AFR][1000 genomes];0.83[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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899136	chr12:60373244-60483607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv559103	chr12:60383069-60483607	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1048137	chr12:60432594-60515455	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4382947	R3HDM2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60467000-60475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60475000-60475400	Enhancers	HUVEC	blood vessel
3	chr12:60475000-60476400	Enhancers	NHEK	skin

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