Variant report

Variant	rs2288777
Chromosome Location	chr5:150920108-150920109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1549918	0.97[EUR][1000 genomes]
rs2033465	0.81[EUR][1000 genomes]
rs3734062	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs60907456	0.91[EUR][1000 genomes]
rs61351310	0.94[EUR][1000 genomes]
rs998076	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[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	nsv883033	chr5:150795336-150920108	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:150889000-150932600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:150901800-150935600	Weak transcription	Fetal Intestine Small	intestine
3	chr5:150905800-150934000	Weak transcription	Adipose Nuclei	Adipose
4	chr5:150908200-150948000	Strong transcription	HMEC	breast
5	chr5:150908400-150933400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:150908400-150944000	Strong transcription	NHEK	skin
7	chr5:150909200-150942400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:150911600-150942800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:150914200-150935600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:150914200-150938600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:150917600-150920600	Strong transcription	Esophagus	oesophagus
12	chr5:150918200-150945400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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