Variant report

Variant	rs7568574
Chromosome Location	chr2:48634734-48634735
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48633890..48635428-chr2:48640629..48643120,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10169629	0.86[ASN][1000 genomes]
rs10208627	0.97[ASN][1000 genomes]
rs10454133	0.82[ASN][1000 genomes]
rs10454134	0.82[ASN][1000 genomes]
rs10454143	0.82[ASN][1000 genomes]
rs10495951	0.80[ASN][1000 genomes]
rs10495952	0.83[ASN][1000 genomes]
rs11679523	0.83[ASN][1000 genomes]
rs11680719	0.82[ASN][1000 genomes]
rs11680916	0.83[ASN][1000 genomes]
rs11683099	0.85[ASN][1000 genomes]
rs11683639	0.82[ASN][1000 genomes]
rs11685861	0.84[ASN][1000 genomes]
rs11689645	0.81[ASN][1000 genomes]
rs11690690	0.83[ASN][1000 genomes]
rs11690748	0.83[ASN][1000 genomes]
rs11690845	0.83[ASN][1000 genomes]
rs12052754	0.81[ASN][1000 genomes]
rs12105983	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12328506	0.87[ASN][1000 genomes]
rs13398791	0.87[ASN][1000 genomes]
rs13399936	0.82[ASN][1000 genomes]
rs13400909	0.82[ASN][1000 genomes]
rs13401749	0.82[ASN][1000 genomes]
rs13401752	0.82[ASN][1000 genomes]
rs13429377	0.85[AFR][1000 genomes]
rs17037289	0.83[ASN][1000 genomes]
rs17037298	0.82[ASN][1000 genomes]
rs17855177	0.85[ASN][1000 genomes]
rs4274640	0.82[ASN][1000 genomes]
rs4316980	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4344965	0.84[ASN][1000 genomes]
rs4438532	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4494796	0.83[ASN][1000 genomes]
rs4547570	0.87[ASN][1000 genomes]
rs4606978	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55640438	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55660911	0.83[ASN][1000 genomes]
rs55744465	0.91[ASN][1000 genomes]
rs56156294	0.91[ASN][1000 genomes]
rs56365822	0.96[ASN][1000 genomes]
rs56391806	0.91[ASN][1000 genomes]
rs57537506	0.82[ASN][1000 genomes]
rs57893565	0.85[ASN][1000 genomes]
rs58012056	0.84[ASN][1000 genomes]
rs58020097	0.82[ASN][1000 genomes]
rs58969359	0.82[ASN][1000 genomes]
rs58978223	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59045263	0.97[ASN][1000 genomes]
rs60042255	0.96[ASN][1000 genomes]
rs60825643	0.86[ASN][1000 genomes]
rs60988618	0.80[ASN][1000 genomes]
rs61303367	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62137015	0.84[ASN][1000 genomes]
rs62137019	0.97[ASN][1000 genomes]
rs62137021	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62137041	0.81[ASN][1000 genomes]
rs66705539	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6705802	0.85[ASN][1000 genomes]
rs6718068	0.85[ASN][1000 genomes]
rs6722246	0.85[ASN][1000 genomes]
rs6732196	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6735288	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6743757	0.83[ASN][1000 genomes]
rs6745580	0.82[ASN][1000 genomes]
rs6749773	0.96[ASN][1000 genomes]
rs6756596	0.87[ASN][1000 genomes]
rs72820404	0.81[ASN][1000 genomes]
rs72820409	0.81[ASN][1000 genomes]
rs72820411	0.81[ASN][1000 genomes]
rs72820415	0.81[ASN][1000 genomes]
rs72820416	0.81[ASN][1000 genomes]
rs72820418	0.81[ASN][1000 genomes]
rs72820420	0.82[ASN][1000 genomes]
rs72820422	0.83[ASN][1000 genomes]
rs72820423	0.84[ASN][1000 genomes]
rs72820424	0.81[ASN][1000 genomes]
rs72820427	0.84[ASN][1000 genomes]
rs72820433	0.83[ASN][1000 genomes]
rs72820436	0.83[ASN][1000 genomes]
rs72820437	0.85[ASN][1000 genomes]
rs72820439	0.85[ASN][1000 genomes]
rs72820441	0.81[ASN][1000 genomes]
rs72820445	0.85[ASN][1000 genomes]
rs72820454	0.96[ASN][1000 genomes]
rs72820474	0.82[ASN][1000 genomes]
rs72820479	0.84[ASN][1000 genomes]
rs72820484	0.82[ASN][1000 genomes]
rs72820492	0.80[ASN][1000 genomes]
rs72820494	0.82[ASN][1000 genomes]
rs72820499	0.81[ASN][1000 genomes]
rs7559431	0.80[ASN][1000 genomes]
rs7562069	0.85[ASN][1000 genomes]
rs7562816	0.83[ASN][1000 genomes]
rs7566239	0.83[ASN][1000 genomes]
rs7573316	0.85[ASN][1000 genomes]
rs7576964	0.85[ASN][1000 genomes]
rs7577237	0.83[ASN][1000 genomes]
rs7579932	0.85[ASN][1000 genomes]
rs7600794	0.83[ASN][1000 genomes]
rs7606104	0.82[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	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
2	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
3	nsv518718	chr2:48624007-48650308	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7568574	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48628200-48640000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:48632200-48635000	Enhancers	Fetal Intestine Large	intestine
3	chr2:48632200-48635200	Enhancers	Fetal Intestine Small	intestine
4	chr2:48634000-48641400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:48634400-48641800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:48634600-48635400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:48634600-48640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:48634600-48641400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:48634600-48642200	Weak transcription	Small Intestine	intestine

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