Variant report

Variant	rs7980757
Chromosome Location	chr12:106688488-106688489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10507211	0.92[CEU][hapmap]
rs10778461	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10778464	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs10861571	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861583	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs10861587	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs10861588	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs10861590	0.92[CEU][hapmap]
rs10861591	0.92[CEU][hapmap]
rs10861594	0.95[CEU][hapmap]
rs10861597	0.92[CEU][hapmap]
rs11112933	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112935	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112940	0.92[CEU][hapmap]
rs11112943	0.92[CEU][hapmap]
rs11112948	0.92[CEU][hapmap]
rs11112951	0.92[CEU][hapmap]
rs11112952	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs1134577	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs11615682	0.92[CEU][hapmap]
rs12370430	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12422988	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs12424952	0.92[CEU][hapmap]
rs17218490	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs17284674	0.96[CEU][hapmap]
rs1921952	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs1983004	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888888	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs4509864	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs56409465	0.89[EUR][1000 genomes]
rs58956914	0.84[EUR][1000 genomes]
rs7132162	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132971	0.92[CEU][hapmap]
rs7134881	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs7135054	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs7306012	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs7306326	0.92[CEU][hapmap]
rs7311957	0.91[CEU][hapmap]
rs7961133	0.92[CEU][hapmap];0.85[TSI][hapmap]
rs7974338	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106678600-106688800	Weak transcription	Lung	lung
2	chr12:106680000-106695200	Weak transcription	Right Atrium	heart
3	chr12:106683200-106693000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:106683400-106689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:106683400-106689800	Weak transcription	Hela-S3	cervix
6	chr12:106683600-106689800	Weak transcription	NHEK	skin
7	chr12:106683800-106689600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:106684400-106691400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:106685400-106690000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:106685600-106689600	Weak transcription	Stomach Mucosa	stomach
11	chr12:106685600-106689800	Weak transcription	A549	lung
12	chr12:106685800-106689800	Weak transcription	HepG2	liver
13	chr12:106685800-106692800	Weak transcription	Fetal Intestine Large	intestine
14	chr12:106685800-106695200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:106685800-106695200	Weak transcription	Fetal Lung	lung
16	chr12:106687000-106691200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:106688400-106693000	Weak transcription	K562	blood

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