Variant report

Variant	rs10954210
Chromosome Location	chr7:128363983-128363984
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10954208	0.95[EUR][1000 genomes]
rs10954209	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531956	0.81[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs12532347	0.88[EUR][1000 genomes]
rs2003954	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2013189	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2060718	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs58709686	0.89[EUR][1000 genomes]
rs58781928	0.82[EUR][1000 genomes]
rs60117311	0.83[EUR][1000 genomes]
rs62481882	0.80[EUR][1000 genomes]
rs62481884	0.80[EUR][1000 genomes]
rs62481903	0.82[EUR][1000 genomes]
rs62481943	0.88[EUR][1000 genomes]
rs6951397	0.81[CHB][hapmap]
rs6965563	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6971091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73723614	0.87[EUR][1000 genomes]
rs745229	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]

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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs10954210	RP11-274B21.1	cis	lung	GTEx
rs10954210	RP11-274B21.2	cis	Muscle Skeletal	GTEx
rs10954210	RP11-274B21.1	cis	Thyroid	GTEx
rs10954210	RP11-274B21.3	cis	Thyroid	GTEx
rs10954210	RP11-274B21.4	cis	Thyroid	GTEx
rs10954210	RP11-274B21.3	cis	Nerve Tibial	GTEx
rs10954210	RP11-274B21.2	cis	Thyroid	GTEx
rs10954210	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs10954210	CICP14	cis	Thyroid	GTEx
rs10954210	RP11-274B21.2	cis	Stomach	GTEx
rs10954210	RP11-274B21.1	cis	Nerve Tibial	GTEx
rs10954210	RP11-274B21.4	cis	lung	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:128361600-128378600	Weak transcription	Right Atrium	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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