Variant report

Variant	rs2590670
Chromosome Location	chr8:125965042-125965043
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125935909..125938271-chr8:125963994..125966987,3	MCF-7	breast:
2	chr8:125964835..125966928-chr8:125968756..125971401,2	K562	blood:
3	chr8:125869656..125872568-chr8:125963654..125965352,2	MCF-7	breast:
4	chr8:125826052..125829315-chr8:125964777..125971300,8	K562	blood:
5	chr8:125964812..125967573-chr8:125978469..125981385,2	MCF-7	breast:
6	chr8:125937794..125939551-chr8:125962673..125965178,2	K562	blood:
7	chr8:125921782..125924509-chr8:125964835..125967359,2	K562	blood:
8	chr8:125955052..125957030-chr8:125964288..125966212,2	MCF-7	breast:
9	chr8:125869320..125871335-chr8:125964557..125966741,2	MCF-7	breast:
10	chr8:125964340..125966709-chr8:125985422..125987318,2	K562	blood:
11	chr8:125853620..125856478-chr8:125964634..125966898,2	K562	blood:
12	chr8:125908171..125909770-chr8:125964003..125966026,2	MCF-7	breast:
13	chr8:125826052..125832853-chr8:125963334..125969415,10	K562	blood:
14	chr8:125739084..125741544-chr8:125964517..125966758,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction
ENSG00000180938	Chromatin interaction
ENSG00000249816	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000255080	Chromatin interaction
ENSG00000255313	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10099730	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1427087	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1427093	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2248055	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2555726	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2590668	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2590672	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2590674	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125960000-125969400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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