Variant report

Variant	rs12516901
Chromosome Location	chr5:42554842-42554843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42554021..42555762-chr5:42557580..42560125,2	MCF-7	breast:
2	chr5:42553184..42555973-chr5:42557554..42559637,2	K562	blood:
3	chr5:42554149..42555763-chr5:42579785..42581551,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10941578	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10941579	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11739444	0.81[EUR][1000 genomes]
rs11740415	0.81[EUR][1000 genomes]
rs11949751	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11955075	0.81[EUR][1000 genomes]
rs12520276	0.91[ASN][1000 genomes]
rs12521020	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13176410	0.86[EUR][1000 genomes]
rs28943881	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34374598	0.91[EUR][1000 genomes]
rs34466913	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34535288	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34895721	0.81[EUR][1000 genomes]
rs35090794	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4075783	0.87[ASN][1000 genomes]
rs4365846	0.92[EUR][1000 genomes]
rs4368736	0.92[EUR][1000 genomes]
rs4395642	0.92[EUR][1000 genomes]
rs4489074	0.88[ASN][1000 genomes]
rs4496716	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4504390	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4533898	0.88[ASN][1000 genomes]
rs55696942	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61197005	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6865492	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6896667	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7707913	0.81[EUR][1000 genomes]
rs7712701	0.89[EUR][1000 genomes]
rs7714392	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7735889	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7736209	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42549600-42561400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:42551400-42555200	Weak transcription	Fetal Heart	heart
3	chr5:42552400-42562200	Weak transcription	Right Atrium	heart
4	chr5:42553600-42555000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:42553600-42562200	Weak transcription	Left Ventricle	heart
6	chr5:42553800-42555000	Enhancers	Liver	Liver
7	chr5:42553800-42555000	Weak transcription	Fetal Intestine Large	intestine
8	chr5:42553800-42555000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:42553800-42555200	Weak transcription	Adipose Nuclei	Adipose
10	chr5:42553800-42555800	Weak transcription	Aorta	Aorta
11	chr5:42554200-42556000	Weak transcription	Right Ventricle	heart
12	chr5:42554600-42556000	Enhancers	Psoas Muscle	Psoas
13	chr5:42554800-42555400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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