Variant report

Variant	rs7517469
Chromosome Location	chr1:86067599-86067600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12756618	0.84[EUR][1000 genomes]
rs17127949	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34201212	1.00[EUR][1000 genomes]
rs35003186	1.00[EUR][1000 genomes]
rs35587534	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35754509	1.00[EUR][1000 genomes]
rs35787923	1.00[EUR][1000 genomes]
rs36003479	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684769	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6699699	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71502515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7512713	1.00[CEU][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518036	1.00[CEU][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7527678	0.84[AFR][1000 genomes]
rs7550753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86049000-86068400	Weak transcription	Psoas Muscle	Psoas
3	chr1:86053800-86071400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:86063000-86069400	Weak transcription	Fetal Lung	lung
5	chr1:86063600-86068000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:86064000-86072600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:86065000-86071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:86065200-86067600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:86065200-86067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:86065200-86067800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:86065200-86071400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:86065200-86072000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:86065600-86068200	Weak transcription	Fetal Stomach	stomach
14	chr1:86065800-86069000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:86066000-86068600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:86066600-86077000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:86067200-86068400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:86067400-86067600	Enhancers	Small Intestine	intestine

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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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