Variant report

Variant	rs247959
Chromosome Location	chr5:99934829-99934830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs13876	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.97[ASN][1000 genomes]
rs154706	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs154710	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs154711	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs154712	0.85[CEU][hapmap]
rs173552	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs173553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174041	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1840984	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs184888	0.97[ASN][1000 genomes]
rs190326	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2370612	0.97[ASN][1000 genomes]
rs247933	0.84[ASN][1000 genomes]
rs247934	0.81[ASN][1000 genomes]
rs247936	0.85[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap]
rs247939	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs247956	1.00[ASN][1000 genomes]
rs247957	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247958	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs247960	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs247961	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs247962	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247963	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs247964	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs258540	0.97[ASN][1000 genomes]
rs258541	0.97[ASN][1000 genomes]
rs258544	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs258545	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs258546	0.97[ASN][1000 genomes]
rs26028	0.85[CEU][hapmap]
rs26030	0.85[CEU][hapmap]
rs26031	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs26032	0.81[ASN][1000 genomes]
rs26034	0.85[CEU][hapmap]
rs27458	0.85[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap]
rs27626	0.85[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap]
rs32236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs32237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs32260	0.88[CEU][hapmap]
rs32261	0.85[CEU][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap]
rs573843	0.85[CEU][hapmap]
rs6870025	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599165	chr5:99469004-100063039	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv882462	chr5:99745767-100060150	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1025890	chr5:99745775-99936186	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1018395	chr5:99827242-100003207	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv823158	chr5:99912491-99960408	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs247959	FAM174A	cis	parietal	SCAN
rs247959	LIX1	cis	parietal	SCAN
rs247959	UNQ1912	cis	multi-tissue	Pritchard

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99932200-99936000	Weak transcription	Psoas Muscle	Psoas
2	chr5:99932200-99936000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:99932200-99936600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:99933600-99935200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:99934600-99935200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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