Variant report

Variant	rs1397370
Chromosome Location	chr8:112846250-112846251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10088669	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10101381	0.82[EUR][1000 genomes]
rs10106758	0.83[EUR][1000 genomes]
rs10107360	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10110811	0.81[EUR][1000 genomes]
rs1031898	0.94[CEU][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs10505166	0.85[AFR][1000 genomes]
rs10955598	0.83[EUR][1000 genomes]
rs10955608	0.85[AFR][1000 genomes]
rs11775565	0.85[AFR][1000 genomes]
rs11787144	0.85[AFR][1000 genomes]
rs11995581	0.80[EUR][1000 genomes]
rs12386939	0.83[EUR][1000 genomes]
rs12675386	0.80[EUR][1000 genomes]
rs13271090	0.82[EUR][1000 genomes]
rs13274098	0.80[EUR][1000 genomes]
rs13274311	0.80[EUR][1000 genomes]
rs13281100	0.82[EUR][1000 genomes]
rs1397362	0.83[EUR][1000 genomes]
rs1397363	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1397369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1479467	0.81[EUR][1000 genomes]
rs1510564	0.80[EUR][1000 genomes]
rs17812276	0.85[AFR][1000 genomes]
rs1858256	0.80[EUR][1000 genomes]
rs186489	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1904354	0.83[EUR][1000 genomes]
rs1904361	0.83[EUR][1000 genomes]
rs2048358	0.83[EUR][1000 genomes]
rs2048359	0.83[EUR][1000 genomes]
rs2169980	0.94[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs2352444	0.94[CEU][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs2352451	0.83[EUR][1000 genomes]
rs3106198	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs320503	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs320505	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs320507	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs320509	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs320510	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs320512	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs320513	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs320514	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs320515	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs320521	0.80[AFR][1000 genomes]
rs320535	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs320541	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs320555	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs320561	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs320562	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs320563	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs320565	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs396807	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4147335	0.80[EUR][1000 genomes]
rs417300	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs440036	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs446737	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs451616	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4633090	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4876436	0.83[EUR][1000 genomes]
rs4876440	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62521976	0.85[AFR][1000 genomes]
rs6469374	0.94[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs6469375	0.81[EUR][1000 genomes]
rs6469376	0.94[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs6469377	0.81[EUR][1000 genomes]
rs6469379	0.83[EUR][1000 genomes]
rs6469387	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987768	0.94[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs6988656	0.81[EUR][1000 genomes]
rs6995414	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6996495	0.94[CEU][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs7000737	0.83[EUR][1000 genomes]
rs7007090	0.81[EUR][1000 genomes]
rs72670543	0.80[AFR][1000 genomes]
rs7812642	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7812994	0.81[EUR][1000 genomes]
rs7813398	0.83[EUR][1000 genomes]
rs7813401	0.83[EUR][1000 genomes]
rs7820488	0.94[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs7826804	0.88[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs7828410	0.83[EUR][1000 genomes]
rs7829760	0.82[EUR][1000 genomes]
rs7833965	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7838290	0.83[EUR][1000 genomes]
rs7843064	0.83[EUR][1000 genomes]
rs7843611	0.83[EUR][1000 genomes]
rs9297453	0.82[EUR][1000 genomes]
rs9297454	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9643064	0.82[EUR][1000 genomes]
rs979733	0.80[EUR][1000 genomes]
rs992953	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs992954	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs995288	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs995289	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015355	chr8:112558586-113154605	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv539722	chr8:112558586-113154605	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1023006	chr8:112756497-113141033	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv539724	chr8:112756497-113141033	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1397370	TTC35	cis	cerebellum	SCAN
rs1397370	TRHR	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112846000-112846400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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