Variant report

Variant	rs2070325
Chromosome Location	chr20:31673846-31673847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1007285	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11696307	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11696310	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11697605	0.88[JPT][hapmap]
rs11699009	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11699448	0.84[CEU][hapmap];0.87[CHB][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11700200	0.93[JPT][hapmap]
rs13036385	0.92[JPT][hapmap]
rs13039811	0.93[JPT][hapmap]
rs13041016	0.93[JPT][hapmap]
rs13044428	0.81[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs1547004	0.93[JPT][hapmap]
rs1972199	0.89[ASN][1000 genomes]
rs2024934	0.93[JPT][hapmap]
rs2057261	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2057262	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2070321	0.89[ASN][1000 genomes]
rs2070322	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070324	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070326	0.93[JPT][hapmap]
rs2070328	0.93[JPT][hapmap]
rs2073325	0.81[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2424940	1.00[JPT][hapmap]
rs2424942	0.81[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2424945	0.81[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2424946	0.81[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2424947	0.81[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2424953	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424955	0.87[CHB][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424956	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424957	0.83[ASN][1000 genomes]
rs2424958	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424960	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2424961	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424963	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2889732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34868076	0.82[ASN][1000 genomes]
rs398444	0.81[CHB][hapmap]
rs4339026	0.93[JPT][hapmap]
rs4911290	0.87[CHB][hapmap];0.81[GIH][hapmap]
rs4911291	0.85[CHB][hapmap]
rs4911292	0.87[CHB][hapmap]
rs4911293	0.87[CHB][hapmap];0.80[GIH][hapmap]
rs4911295	0.82[ASN][1000 genomes]
rs4911296	0.82[ASN][1000 genomes]
rs4911297	0.82[ASN][1000 genomes]
rs6057715	0.87[CHB][hapmap]
rs6057717	0.86[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs6059067	0.82[ASN][1000 genomes]
rs6059069	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6059076	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs6059079	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6087441	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6088084	0.87[CHB][hapmap]
rs6088085	0.87[CHB][hapmap]
rs6088091	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6141876	0.87[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6141877	0.80[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7265752	0.93[JPT][hapmap]
rs7273967	0.81[ASN][1000 genomes]
rs761931	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs761935	0.81[CHB][hapmap]
rs761938	0.93[JPT][hapmap]

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	nsv1056411	chr20:31057037-31942835	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2758519	chr20:31495807-31748166	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758792	chr20:31495807-31748166	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2070325	TTLL9	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:31673800-31674200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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