Variant report

Variant	rs60815228
Chromosome Location	chr2:48521683-48521684
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48520183..48522872-chr2:48541558..48543622,2	MCF-7	breast:
2	chr2:48514433..48519005-chr2:48519179..48522844,4	K562	blood:

Variant related genes	Relation type
ENSG00000170802	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11676036	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11679523	0.83[ASN][1000 genomes]
rs11680916	0.83[ASN][1000 genomes]
rs11681409	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11682633	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11684517	0.84[EUR][1000 genomes]
rs11685861	0.83[ASN][1000 genomes]
rs11686007	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11687708	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11688481	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11690690	0.83[ASN][1000 genomes]
rs11690748	0.83[ASN][1000 genomes]
rs11690845	0.83[ASN][1000 genomes]
rs17855177	0.83[ASN][1000 genomes]
rs1876812	0.86[ASN][1000 genomes]
rs4344965	0.82[ASN][1000 genomes]
rs55660911	0.83[ASN][1000 genomes]
rs55761545	0.88[ASN][1000 genomes]
rs55788229	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57131168	0.89[ASN][1000 genomes]
rs57537506	0.85[ASN][1000 genomes]
rs57893565	0.81[ASN][1000 genomes]
rs58012056	0.83[ASN][1000 genomes]
rs59697023	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62137015	0.82[ASN][1000 genomes]
rs6705802	0.83[ASN][1000 genomes]
rs6718068	0.83[ASN][1000 genomes]
rs6722246	0.83[ASN][1000 genomes]
rs6743757	0.81[ASN][1000 genomes]
rs6745580	0.85[ASN][1000 genomes]
rs72818478	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72818488	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72818491	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72818494	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72818502	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72820403	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72820404	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72820409	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72820411	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72820415	0.86[ASN][1000 genomes]
rs72820416	0.86[ASN][1000 genomes]
rs72820418	0.84[ASN][1000 genomes]
rs72820420	0.85[ASN][1000 genomes]
rs72820422	0.84[ASN][1000 genomes]
rs72820423	0.83[ASN][1000 genomes]
rs72820424	0.81[ASN][1000 genomes]
rs72820427	0.82[ASN][1000 genomes]
rs72820436	0.81[ASN][1000 genomes]
rs72820437	0.83[ASN][1000 genomes]
rs72820439	0.83[ASN][1000 genomes]
rs72820445	0.83[ASN][1000 genomes]
rs7562069	0.83[ASN][1000 genomes]
rs7566239	0.81[ASN][1000 genomes]
rs7573316	0.83[ASN][1000 genomes]
rs7576964	0.83[ASN][1000 genomes]
rs7577237	0.84[ASN][1000 genomes]
rs7579932	0.83[ASN][1000 genomes]
rs7606104	0.84[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	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	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60815228	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:48516800-48522200	Weak transcription	Primary B cells from peripheral blood	blood

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