Variant report

Variant	rs8021180
Chromosome Location	chr14:70783943-70783944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70512570..70513352-chr14:70783454..70784020,2	MCF-7	breast:
2	chr14:70563321..70564117-chr14:70783664..70784511,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10142102	0.90[JPT][hapmap]
rs10148586	0.90[JPT][hapmap]
rs1044527	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1060681	0.82[CEU][hapmap]
rs11158855	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11623974	0.93[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11626325	0.83[ASN][1000 genomes]
rs12146968	0.83[ASN][1000 genomes]
rs12147722	0.98[ASN][1000 genomes]
rs12147825	0.97[ASN][1000 genomes]
rs12433355	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12588244	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12589335	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12590679	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12879801	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12887715	0.83[ASN][1000 genomes]
rs12890415	0.94[ASN][1000 genomes]
rs17475516	0.82[CEU][hapmap]
rs17565772	0.82[EUR][1000 genomes]
rs2332372	0.81[ASN][1000 genomes]
rs2332421	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34802428	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35164282	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35186208	0.94[ASN][1000 genomes]
rs35469188	0.99[ASN][1000 genomes]
rs35671518	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35859016	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3759774	0.93[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61977537	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61977542	0.90[ASN][1000 genomes]
rs61977552	0.86[ASN][1000 genomes]
rs7141407	0.90[ASN][1000 genomes]
rs7143274	0.98[ASN][1000 genomes]
rs7144424	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7152898	0.89[ASN][1000 genomes]
rs8005362	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8014520	0.84[ASN][1000 genomes]
rs8015005	0.82[ASN][1000 genomes]
rs8015988	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8016060	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8016418	0.82[CEU][hapmap]
rs9323536	0.90[JPT][hapmap]

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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8021180	ZNF583	trans	parietal	SCAN
rs8021180	ADAM12	trans	parietal	SCAN
rs8021180	MAP3K9	cis	cerebellum	SCAN
rs8021180	ADAM20	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70781200-70796800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:70782400-70784000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70782400-70784000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:70782600-70791800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:70782600-70791800	Weak transcription	HSMMtube	muscle
6	chr14:70783000-70784200	Weak transcription	Fetal Intestine Small	intestine
7	chr14:70783000-70785000	Enhancers	Pancreas	Pancrea
8	chr14:70783200-70792400	Weak transcription	HMEC	breast
9	chr14:70783400-70799200	Weak transcription	NHEK	skin
10	chr14:70783600-70784000	Enhancers	HepG2	liver
11	chr14:70783600-70791800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:70783600-70791800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:70783600-70792000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:70783600-70798600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:70783800-70786000	Enhancers	Liver	Liver

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