Variant report

Variant	rs2220075
Chromosome Location	chr2:48328596-48328597
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	chr2:48321334..48324491-chr2:48327940..48330125,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10167776	0.83[ASN][1000 genomes]
rs10196696	0.93[EUR][1000 genomes]
rs10865228	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1473611	0.84[ASN][1000 genomes]
rs1483210	0.88[ASN][1000 genomes]
rs1483213	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1483215	1.00[ASN][1000 genomes]
rs1483221	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17324704	0.84[ASN][1000 genomes]
rs2056138	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4952901	0.80[EUR][1000 genomes]
rs4952904	1.00[ASN][1000 genomes]
rs4953548	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6545011	1.00[JPT][hapmap]
rs6545018	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6545019	0.92[ASN][1000 genomes]
rs6545021	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6718037	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6720994	0.90[EUR][1000 genomes]
rs6749276	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6759902	0.96[ASN][1000 genomes]
rs7563749	0.84[ASN][1000 genomes]
rs7566525	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7584401	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7584493	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7589460	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7609066	1.00[JPT][hapmap]
rs922903	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs963133	0.84[ASN][1000 genomes]
rs963134	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs963135	0.86[ASN][1000 genomes]
rs9677729	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription 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	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1000455	chr2:48202161-48362638	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2220075	EPCAM	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48328200-48333400	Weak transcription	Primary hematopoietic stem cells	blood

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