Variant report

Variant	rs208375
Chromosome Location	chr20:52624582-52624583
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:52622694..52625082-chr20:52673382..52675539,2	K562	blood:
2	chr17:56707492..56709260-chr20:52622676..52625192,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1034843	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs158544	1.00[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs158551	1.00[YRI][hapmap]
rs16998745	1.00[YRI][hapmap]
rs208364	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs208372	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208373	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208386	1.00[YRI][hapmap]
rs2276492	1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2276508	0.83[AMR][1000 genomes]
rs2276511	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2276512	1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2299727	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2299733	0.83[AMR][1000 genomes]
rs2299736	1.00[EUR][1000 genomes]
rs290389	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs290424	0.81[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs290425	0.88[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs290426	1.00[AMR][1000 genomes]
rs290461	1.00[YRI][hapmap]
rs290469	1.00[YRI][hapmap]
rs290470	1.00[YRI][hapmap]
rs36030456	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs458739	1.00[YRI][hapmap]
rs459454	1.00[AMR][1000 genomes]
rs4811488	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6091791	1.00[EUR][1000 genomes]
rs6091792	1.00[EUR][1000 genomes]
rs6091796	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097693	1.00[EUR][1000 genomes]
rs6097694	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097697	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52601800-52630800	Weak transcription	Stomach Mucosa	stomach
3	chr20:52618800-52644400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr20:52619000-52630600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:52619800-52625200	Weak transcription	Fetal Stomach	stomach
6	chr20:52623600-52625200	Enhancers	Brain Substantia Nigra	brain
7	chr20:52623800-52624800	Weak transcription	Brain Angular Gyrus	brain
8	chr20:52623800-52625000	Enhancers	Brain Cingulate Gyrus	brain
9	chr20:52624000-52633400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr20:52624200-52626400	Enhancers	Brain Hippocampus Middle	brain
11	chr20:52624400-52624600	Enhancers	Brain Anterior Caudate	brain

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