Variant report

Variant	rs10940640
Chromosome Location	chr5:58387799-58387800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1353747	1.00[ASW][hapmap];0.84[TSI][hapmap];0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1498608	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1553113	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16889126	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17777413	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs2968010	0.89[AFR][1000 genomes];0.89[EUR][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58376400-58388200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:58376400-58389200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:58376400-58390400	Weak transcription	Hela-S3	cervix
4	chr5:58378200-58391800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:58384400-58387800	Weak transcription	NHEK	skin
6	chr5:58385600-58387800	Enhancers	Fetal Lung	lung
7	chr5:58386200-58388400	Enhancers	Colon Smooth Muscle	Colon
8	chr5:58386400-58390200	Weak transcription	Fetal Brain Male	brain
9	chr5:58386400-58391000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:58386600-58388400	Weak transcription	Fetal Kidney	kidney
11	chr5:58387200-58388400	Weak transcription	Fetal Heart	heart
12	chr5:58387200-58388600	Weak transcription	Small Intestine	intestine
13	chr5:58387600-58387800	Enhancers	A549	lung
14	chr5:58387600-58388400	Enhancers	Rectal Smooth Muscle	rectum

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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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