Variant report

Variant	rs12099550
Chromosome Location	chr12:44495407-44495408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10161163	1.00[ASN][1000 genomes]
rs10161301	1.00[ASN][1000 genomes]
rs10506233	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10506234	0.86[EUR][1000 genomes]
rs10506238	0.86[EUR][1000 genomes]
rs11182363	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182371	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182376	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182389	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182401	1.00[ASN][1000 genomes]
rs11182410	1.00[CHB][hapmap]
rs11832859	0.86[EUR][1000 genomes]
rs12296329	0.83[EUR][1000 genomes]
rs12296939	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12297529	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12297544	0.87[ASN][1000 genomes]
rs12301421	1.00[ASN][1000 genomes]
rs12302401	1.00[ASN][1000 genomes]
rs12302578	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303163	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12303870	1.00[ASN][1000 genomes]
rs12304783	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306873	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12308508	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12308564	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308750	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309408	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310801	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12311153	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319385	1.00[ASN][1000 genomes]
rs12319439	1.00[ASN][1000 genomes]
rs12319776	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12320155	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12321149	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12321287	1.00[ASN][1000 genomes]
rs1388775	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094016	1.00[ASN][1000 genomes]
rs17094097	0.86[EUR][1000 genomes]
rs17094102	0.86[EUR][1000 genomes]
rs17094110	0.86[EUR][1000 genomes]
rs17094119	0.86[EUR][1000 genomes]
rs28495612	0.86[EUR][1000 genomes]
rs28538835	0.87[ASN][1000 genomes]
rs28654762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57462004	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58851540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59152420	0.87[ASN][1000 genomes]
rs60026566	0.86[EUR][1000 genomes]
rs66993609	1.00[ASN][1000 genomes]
rs7298069	0.86[EUR][1000 genomes]
rs7298835	0.86[EUR][1000 genomes]
rs73100825	0.87[ASN][1000 genomes]
rs73100834	0.87[ASN][1000 genomes]
rs73286295	1.00[EUR][1000 genomes]
rs73286296	1.00[EUR][1000 genomes]
rs73286301	1.00[EUR][1000 genomes]
rs73288025	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288036	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288052	0.86[EUR][1000 genomes]
rs73288054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288073	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288089	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288095	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290206	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290208	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290217	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290223	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290224	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290225	1.00[ASN][1000 genomes]
rs73290228	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290230	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953173	0.86[EUR][1000 genomes]
rs7967819	0.86[EUR][1000 genomes]
rs963095	0.87[ASN][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44469400-44495600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:44482800-44501000	Weak transcription	Left Ventricle	heart
3	chr12:44489000-44500600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:44493000-44497600	Weak transcription	Pancreas	Pancrea
5	chr12:44495000-44495800	Enhancers	HSMMtube	muscle

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