Variant report

Variant	rs2630491
Chromosome Location	chr4:68645673-68645674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1020177	1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1155222	1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1440736	0.87[EUR][1000 genomes]
rs1440737	0.87[EUR][1000 genomes]
rs2255844	0.93[EUR][1000 genomes]
rs2582357	0.87[EUR][1000 genomes]
rs2582360	0.87[EUR][1000 genomes]
rs2582362	0.87[EUR][1000 genomes]
rs2627243	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627245	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630485	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630486	0.87[EUR][1000 genomes]
rs2630487	0.87[EUR][1000 genomes]
rs2711135	0.87[EUR][1000 genomes]
rs2711136	0.87[EUR][1000 genomes]
rs2711156	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711159	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879214	chr4:68389841-68789778	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:68643800-68650400	Weak transcription	Fetal Lung	lung
2	chr4:68644600-68646000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:68644600-68646400	Enhancers	HMEC	breast
4	chr4:68645000-68645800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:68645000-68646000	Enhancers	NHEK	skin
6	chr4:68645000-68646400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:68645200-68646000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:68645400-68650800	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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