Variant report

Variant	rs10861572
Chromosome Location	chr12:106688576-106688577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10861574	0.96[ASN][1000 genomes]
rs10861575	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.95[ASN][1000 genomes]
rs11112931	0.99[ASN][1000 genomes]
rs12831519	0.83[CEU][hapmap];0.84[TSI][hapmap]
rs1532587	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.96[ASN][1000 genomes]
rs17217845	0.83[CEU][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs2077730	0.89[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs2249837	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2250108	0.89[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs2250705	0.94[ASN][1000 genomes]
rs2250708	0.93[ASN][1000 genomes]
rs2250709	0.95[ASN][1000 genomes]
rs2250713	0.94[ASN][1000 genomes]
rs2250936	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2264757	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2264762	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2264814	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2264815	0.89[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2264816	0.83[ASN][1000 genomes]
rs2279759	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2465356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs35816179	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36139467	0.95[ASN][1000 genomes]
rs7314289	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904614	0.94[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10861572	C12orf23	cis	cerebellum	SCAN

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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