Variant report

Variant	rs4547570
Chromosome Location	chr2:48620587-48620588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48617829..48620871-chr2:48622412..48626412,3	K562	blood:
2	chr2:48338352..48340381-chr2:48619344..48622319,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10153773	0.91[JPT][hapmap]
rs10169629	0.99[ASN][1000 genomes]
rs10186237	0.82[JPT][hapmap]
rs10199431	0.91[JPT][hapmap]
rs10208627	0.88[ASN][1000 genomes]
rs10211336	0.93[EUR][1000 genomes]
rs10454133	0.82[JPT][hapmap]
rs10454134	0.87[CEU][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs10495951	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10495952	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11125173	0.81[CEU][hapmap]
rs11676168	0.95[JPT][hapmap]
rs11679523	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11680719	0.87[JPT][hapmap]
rs11680916	0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11682044	0.86[JPT][hapmap]
rs11682633	0.88[ASN][1000 genomes]
rs11683099	0.95[ASN][1000 genomes]
rs11683639	0.94[CEU][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes]
rs11683708	0.93[EUR][1000 genomes]
rs11685861	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11686007	0.82[ASN][1000 genomes]
rs11688481	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11689622	0.94[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs11689645	0.91[ASN][1000 genomes]
rs11690690	0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11690748	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11690845	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12052754	0.91[ASN][1000 genomes]
rs12105983	0.88[ASN][1000 genomes]
rs12328506	1.00[ASN][1000 genomes]
rs13388291	0.90[JPT][hapmap]
rs13398791	1.00[ASN][1000 genomes]
rs13400909	0.91[EUR][1000 genomes]
rs13401749	0.94[CEU][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes]
rs13401752	0.93[EUR][1000 genomes]
rs13432998	0.91[JPT][hapmap]
rs17037289	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17037298	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17855177	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs35913553	0.88[EUR][1000 genomes]
rs4131784	0.81[CEU][hapmap]
rs4316980	0.86[JPT][hapmap]
rs4344965	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4411759	0.91[JPT][hapmap]
rs4438532	0.83[JPT][hapmap]
rs4494796	0.93[EUR][1000 genomes]
rs4606978	0.82[JPT][hapmap]
rs4641990	0.95[JPT][hapmap]
rs55660911	0.93[ASN][1000 genomes]
rs55744465	0.94[ASN][1000 genomes]
rs55757090	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55761545	0.86[ASN][1000 genomes]
rs55971719	0.93[EUR][1000 genomes]
rs56156294	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56163539	0.84[ASN][1000 genomes]
rs56365822	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56391806	0.94[ASN][1000 genomes]
rs57131168	0.81[ASN][1000 genomes]
rs57537506	0.92[ASN][1000 genomes]
rs57893565	0.94[ASN][1000 genomes]
rs58012056	0.94[ASN][1000 genomes]
rs58020097	0.93[EUR][1000 genomes]
rs58969359	0.93[EUR][1000 genomes]
rs58978223	0.84[ASN][1000 genomes]
rs59045263	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60042255	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60825643	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60988618	0.89[EUR][1000 genomes]
rs61303367	0.86[ASN][1000 genomes]
rs62137015	0.94[ASN][1000 genomes]
rs62137018	0.83[ASN][1000 genomes]
rs62137019	0.86[ASN][1000 genomes]
rs62137021	0.84[ASN][1000 genomes]
rs6545027	0.87[JPT][hapmap]
rs6545030	0.96[JPT][hapmap]
rs6545036	0.86[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs66705539	0.88[ASN][1000 genomes]
rs6705802	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6712029	0.95[JPT][hapmap]
rs6718068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6722246	0.94[ASN][1000 genomes]
rs6735288	0.88[ASN][1000 genomes]
rs6743757	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6745580	0.92[ASN][1000 genomes]
rs6747441	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6749773	0.86[ASN][1000 genomes]
rs6756596	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72818488	0.81[ASN][1000 genomes]
rs72818502	0.84[ASN][1000 genomes]
rs72820403	0.88[ASN][1000 genomes]
rs72820404	0.91[ASN][1000 genomes]
rs72820409	0.90[ASN][1000 genomes]
rs72820411	0.90[ASN][1000 genomes]
rs72820415	0.90[ASN][1000 genomes]
rs72820416	0.90[ASN][1000 genomes]
rs72820418	0.90[ASN][1000 genomes]
rs72820420	0.92[ASN][1000 genomes]
rs72820422	0.92[ASN][1000 genomes]
rs72820423	0.94[ASN][1000 genomes]
rs72820424	0.91[ASN][1000 genomes]
rs72820427	0.94[ASN][1000 genomes]
rs72820433	0.93[ASN][1000 genomes]
rs72820436	0.93[ASN][1000 genomes]
rs72820437	0.94[ASN][1000 genomes]
rs72820439	0.94[ASN][1000 genomes]
rs72820441	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72820445	0.94[ASN][1000 genomes]
rs72820454	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72820474	0.92[EUR][1000 genomes]
rs72820479	0.93[EUR][1000 genomes]
rs72820484	0.93[EUR][1000 genomes]
rs72820492	0.93[EUR][1000 genomes]
rs72820494	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7559431	0.90[ASN][1000 genomes]
rs7562069	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7562816	0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7566239	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7568574	0.87[ASN][1000 genomes]
rs7573316	0.94[ASN][1000 genomes]
rs7576964	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7577237	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7579932	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7600794	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7606104	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[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	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4547570	PPP1R21	cis	Thyroid	GTEx
rs4547570	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48619200-48622800	Weak transcription	HepG2	liver
2	chr2:48619200-48624600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:48619400-48622400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:48619400-48622800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:48619400-48623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:48619400-48623000	Weak transcription	Fetal Intestine Large	intestine
7	chr2:48619400-48624000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:48619400-48624600	Weak transcription	Brain Angular Gyrus	brain
9	chr2:48619400-48624600	Weak transcription	Brain Anterior Caudate	brain
10	chr2:48619400-48624600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:48619400-48625400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:48619600-48624400	Weak transcription	Brain Hippocampus Middle	brain

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