Variant report

Variant	rs35804313
Chromosome Location	chr1:224667102-224667103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10159333	0.88[EUR][1000 genomes]
rs10495219	0.86[EUR][1000 genomes]
rs10753467	0.90[EUR][1000 genomes]
rs10753468	0.90[EUR][1000 genomes]
rs10916614	0.86[EUR][1000 genomes]
rs10916616	0.88[EUR][1000 genomes]
rs10916617	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10916619	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11577170	0.90[EUR][1000 genomes]
rs11578709	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584057	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584638	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11588973	0.90[EUR][1000 genomes]
rs11590658	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11800613	0.90[EUR][1000 genomes]
rs11805973	0.83[EUR][1000 genomes]
rs11807763	0.86[EUR][1000 genomes]
rs12062871	0.92[EUR][1000 genomes]
rs12731035	0.83[AMR][1000 genomes]
rs12731630	0.90[EUR][1000 genomes]
rs12738799	0.86[EUR][1000 genomes]
rs12739486	0.86[EUR][1000 genomes]
rs12742989	0.87[EUR][1000 genomes]
rs12743200	0.90[EUR][1000 genomes]
rs12747286	0.84[EUR][1000 genomes]
rs12751161	0.86[EUR][1000 genomes]
rs12755338	0.87[EUR][1000 genomes]
rs12758302	0.82[EUR][1000 genomes]
rs12758579	0.90[EUR][1000 genomes]
rs1544196	0.89[EUR][1000 genomes]
rs16848365	0.90[EUR][1000 genomes]
rs17570292	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185684	0.90[EUR][1000 genomes]
rs28434172	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2897048	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34791963	0.85[EUR][1000 genomes]
rs35011635	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35067427	0.90[EUR][1000 genomes]
rs35277713	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35303987	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35365551	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35571080	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35767322	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35915186	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653587	0.88[EUR][1000 genomes]
rs55730749	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6426123	0.88[EUR][1000 genomes]
rs6426125	0.88[EUR][1000 genomes]
rs6426126	0.88[EUR][1000 genomes]
rs66467176	0.90[EUR][1000 genomes]
rs66530931	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6663522	0.90[EUR][1000 genomes]
rs6678608	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6698343	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71644786	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7365151	0.90[EUR][1000 genomes]
rs7514575	0.85[EUR][1000 genomes]
rs7527044	0.86[EUR][1000 genomes]
rs7529310	0.88[EUR][1000 genomes]
rs867362	0.90[EUR][1000 genomes]
rs885606	0.90[EUR][1000 genomes]
rs9970697	0.89[EUR][1000 genomes]

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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35804313	CNIH4	cis	Muscle Skeletal	GTEx
rs35804313	CNIH4	cis	Thyroid	GTEx
rs35804313	CNIH4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224662600-224668800	Weak transcription	Esophagus	oesophagus
2	chr1:224664400-224668600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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