Variant report

Variant	rs6855589
Chromosome Location	chr4:21471568-21471569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1460492	0.91[JPT][hapmap]
rs16871135	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs358566	1.00[CEU][hapmap]
rs358570	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs358574	0.87[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes]
rs358575	0.87[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes]
rs358576	0.87[AMR][1000 genomes]
rs358581	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs358582	0.91[CEU][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs358586	0.91[CEU][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs358588	0.91[CEU][hapmap]
rs358592	1.00[CEU][hapmap];0.83[GIH][hapmap];0.98[TSI][hapmap]
rs442224	0.82[EUR][1000 genomes]
rs6813065	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1014062	chr4:21270358-21479027	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv829879	chr4:21418568-21611002	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv998481	chr4:21421945-21608805	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv593800	chr4:21456023-21471568	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	n/a
6	nsv593804	chr4:21469139-21477084	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21469600-21471600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:21470200-21471600	Weak transcription	HMEC	breast
3	chr4:21470600-21471600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:21470800-21471600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:21470800-21472800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:21470800-21472800	Enhancers	Brain Germinal Matrix	brain
7	chr4:21471000-21472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:21471400-21472200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:21471400-21472400	Enhancers	HSMM	muscle
10	chr4:21471400-21472600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:21471400-21472600	Enhancers	HUVEC	blood vessel
12	chr4:21471400-21472800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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