Variant report

Variant	rs1416288
Chromosome Location	chr6:140313718-140313719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1102076	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1361248	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs188002	1.00[YRI][hapmap]
rs201281	0.83[YRI][hapmap]
rs4895579	0.94[CEU][hapmap];0.95[CHB][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs594560	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs603321	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs623233	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs623331	0.94[CEU][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs642858	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs644467	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs646695	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs646747	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs674672	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6933684	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9321762	0.92[YRI][hapmap]
rs9376483	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9376484	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9403133	0.84[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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140305600-140317200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:140311600-140313800	Weak transcription	Placenta	Placenta
3	chr6:140312200-140317400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:140312400-140313800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:140312400-140313800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:140312600-140313800	Weak transcription	Fetal Intestine Large	intestine
7	chr6:140312600-140322200	Weak transcription	NHDF-Ad	bronchial
8	chr6:140312800-140313800	Weak transcription	Aorta	Aorta
9	chr6:140312800-140313800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:140312800-140313800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:140312800-140317200	Weak transcription	Osteobl	bone
12	chr6:140312800-140317400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:140312800-140322200	Weak transcription	NHLF	lung
14	chr6:140312800-140322600	Weak transcription	Ovary	ovary
15	chr6:140313200-140314000	Weak transcription	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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