Variant report

Variant	rs2590673
Chromosome Location	chr8:125968156-125968157
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125966414..125968159-chr8:125969946..125971937,2	MCF-7	breast:
2	chr8:125826052..125829315-chr8:125964777..125971300,8	K562	blood:
3	chr8:125962308..125964397-chr8:125966591..125968437,2	K562	blood:
4	chr8:125957863..125960286-chr8:125966886..125970018,3	K562	blood:
5	chr8:125551432..125553134-chr8:125968073..125971516,3	MCF-7	breast:
6	chr8:125607119..125608683-chr8:125967904..125969529,2	K562	blood:
7	chr8:125968114..125970117-chr8:125983908..125986351,2	K562	blood:
8	chr8:125962237..125964397-chr8:125966163..125968875,2	MCF-7	breast:
9	chr8:125593451..125595490-chr8:125966290..125968595,2	K562	blood:
10	chr8:125826052..125832853-chr8:125963334..125969415,10	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000249816	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000180938	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10505452	0.81[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.90[ASN][1000 genomes]
rs12546767	0.85[MEX][hapmap]
rs12550611	0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12682497	0.82[AMR][1000 genomes]
rs13268726	0.85[MEX][hapmap];0.83[AMR][1000 genomes]
rs13272317	0.85[AMR][1000 genomes]
rs1427084	0.87[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16900167	0.90[MEX][hapmap];0.88[AMR][1000 genomes]
rs1834717	0.93[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2382997	0.83[AMR][1000 genomes]
rs2590671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2590675	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34132029	0.83[AMR][1000 genomes]
rs35197498	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68032922	0.88[AMR][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:13 , 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
2	chr8:125966400-125968400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:125966400-125969600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:125966600-125968200	Weak transcription	Fetal Thymus	thymus
5	chr8:125967000-125968200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:125967000-125968200	Weak transcription	Fetal Heart	heart
7	chr8:125967200-125968200	Enhancers	K562	blood
8	chr8:125968000-125968400	Enhancers	Spleen	Spleen
9	chr8:125968000-125969000	Enhancers	Fetal Intestine Small	intestine
10	chr8:125968000-125969000	Enhancers	Left Ventricle	heart
11	chr8:125968000-125969200	Enhancers	Liver	Liver
12	chr8:125968000-125969800	Enhancers	Right Ventricle	heart
13	chr8:125968000-125971600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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

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