Variant report

Variant	rs11120527
Chromosome Location	chr1:215408057-215408058
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10494994	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs10864168	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11120529	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11120543	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11589027	0.84[EUR][1000 genomes]
rs12094438	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12143625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12402782	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12405930	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12406223	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12409636	0.87[EUR][1000 genomes]
rs12409910	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1339397	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1339398	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1339413	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1416658	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1416659	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1538542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538548	0.84[EUR][1000 genomes]
rs17024619	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17024624	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17024632	0.87[EUR][1000 genomes]
rs17024638	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17024649	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17042179	0.87[EUR][1000 genomes]
rs1981211	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2211125	0.87[EUR][1000 genomes]
rs2211126	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4356021	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4356022	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4372226	0.85[EUR][1000 genomes]
rs4384204	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4442346	0.87[EUR][1000 genomes]
rs4489525	0.87[EUR][1000 genomes]
rs4512617	0.87[EUR][1000 genomes]
rs4655401	0.87[EUR][1000 genomes]
rs4655402	0.87[EUR][1000 genomes]
rs4655404	0.87[EUR][1000 genomes]
rs60100666	0.84[EUR][1000 genomes]
rs60889311	0.84[EUR][1000 genomes]
rs61819677	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61819680	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61819705	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61819706	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61819707	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61819708	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61819709	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61819710	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61819711	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61819714	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61819715	0.84[EUR][1000 genomes]
rs61819716	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61819717	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61819747	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61819752	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61819753	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6686529	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[EUR][1000 genomes]
rs72737240	0.81[ASN][1000 genomes]
rs7549184	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	nsv873169	chr1:215264486-215453286	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
2	nsv873170	chr1:215367248-215440975	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11120527	ANGEL2	cis	parietal	SCAN
rs11120527	SYT14	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215388600-215408200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:215406600-215408200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:215406600-215408200	Weak transcription	Fetal Brain Female	brain
4	chr1:215406600-215408400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:215406800-215412800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:215406800-215416800	Weak transcription	NHLF	lung
7	chr1:215407800-215413200	Strong transcription	NHDF-Ad	bronchial
8	chr1:215408000-215411800	Strong transcription	Osteobl	bone
9	chr1:215408000-215413600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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