Variant report

Variant	rs10497323
Chromosome Location	chr2:168099738-168099739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10193480	0.84[AMR][1000 genomes]
rs12611980	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12612028	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1564384	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853244	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1842233	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2204279	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4315485	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4610018	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57543537	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60477253	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6432989	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6708386	0.94[ASW][hapmap];0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731283	0.81[JPT][hapmap]
rs6746061	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73029721	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7419512	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7556840	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7560985	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7564986	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7569158	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7602065	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7602119	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7603500	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7605309	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9784125	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][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	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv979347	chr2:168092753-168141678	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10497323	SPC25	cis	parietal	SCAN
rs10497323	BBS5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168056800-168114000	Weak transcription	Psoas Muscle	Psoas
2	chr2:168095800-168112200	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:168097000-168112200	Strong transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:168097200-168099800	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:168097800-168109600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:168098200-168100400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:168098600-168100400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:168098800-168100400	Strong transcription	Left Ventricle	heart
9	chr2:168099000-168100000	Strong transcription	Right Ventricle	heart

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