Variant report

Variant	rs2666481
Chromosome Location	chr1:62717414-62717415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12122645	0.88[ASN][1000 genomes]
rs1806870	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2457806	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2457808	0.89[ASN][1000 genomes]
rs2457810	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2457811	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2666479	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2666482	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2765241	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2774937	0.93[ASN][1000 genomes]
rs2774938	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6421473	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7529326	0.88[ASN][1000 genomes]
rs9662717	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs982504	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62704000-62720600	Weak transcription	Right Atrium	heart
2	chr1:62707600-62719600	Weak transcription	Fetal Kidney	kidney
3	chr1:62707600-62732000	Weak transcription	Gastric	stomach
4	chr1:62707800-62727400	Weak transcription	Pancreas	Pancrea
5	chr1:62708200-62720000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:62710800-62731800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:62711400-62718000	Weak transcription	HepG2	liver
8	chr1:62711600-62730600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:62711600-62737200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:62712000-62727400	Weak transcription	Fetal Lung	lung
11	chr1:62712000-62731600	Weak transcription	Placenta	Placenta
12	chr1:62713400-62728800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:62713800-62718000	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:62714000-62717800	Weak transcription	Fetal Heart	heart
15	chr1:62716200-62719200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr1:62716200-62719600	Strong transcription	Fetal Stomach	stomach
17	chr1:62716400-62718800	Strong transcription	Adipose Nuclei	Adipose
18	chr1:62716400-62720200	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr1:62717000-62718000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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

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