Variant report

Variant	rs2700262
Chromosome Location	chr3:120201569-120201570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1123897	0.84[CHB][hapmap]
rs1147709	0.94[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1147710	0.84[ASN][1000 genomes]
rs1147712	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147714	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147715	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147716	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147718	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1147722	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1259309	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1259311	0.84[CHB][hapmap]
rs1259312	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1259315	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1259318	0.84[CHB][hapmap]
rs1259329	0.84[CHB][hapmap]
rs1259331	0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1259332	0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1259334	0.84[CHB][hapmap]
rs1259336	0.84[CHB][hapmap]
rs1259337	0.84[CHB][hapmap]
rs1259338	0.84[CHB][hapmap]
rs1259456	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259471	0.84[ASN][1000 genomes]
rs1259472	0.84[ASN][1000 genomes]
rs1259473	0.84[ASN][1000 genomes]
rs1262395	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267675	0.84[CHB][hapmap]
rs1267693	0.88[ASN][1000 genomes]
rs1270209	0.84[CHB][hapmap]
rs1272257	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1520881	0.89[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1716835	0.84[CHB][hapmap]
rs1733296	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs1733301	0.81[ASN][1000 genomes]
rs1733303	0.81[ASN][1000 genomes]
rs1733304	0.89[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1733306	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1733307	0.81[ASN][1000 genomes]
rs1733319	0.84[CHB][hapmap]
rs2702155	0.94[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs5000757	0.82[ASN][1000 genomes]
rs735138	0.99[ASN][1000 genomes]
rs874478	0.81[ASN][1000 genomes]
rs874479	0.89[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs9631455	0.84[CHB][hapmap]
rs988924	0.87[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2700262	FSTL1	cis	cerebellum	SCAN
rs2700262	ARGFX	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120193800-120205800	Weak transcription	HSMM	muscle
2	chr3:120196800-120203000	Weak transcription	Left Ventricle	heart
3	chr3:120196800-120205800	Weak transcription	Fetal Stomach	stomach
4	chr3:120197200-120203000	Weak transcription	Right Ventricle	heart

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