Variant report

Variant	rs11713908
Chromosome Location	chr3:120220775-120220776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1123897	0.93[JPT][hapmap]
rs1147719	0.85[ASN][1000 genomes]
rs1147720	0.85[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1147721	0.94[ASN][1000 genomes]
rs1259311	0.93[JPT][hapmap]
rs1259314	0.94[ASN][1000 genomes]
rs1259318	0.88[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs1259320	0.85[ASN][1000 genomes]
rs1259321	0.85[ASN][1000 genomes]
rs1259322	0.81[ASN][1000 genomes]
rs1259329	0.93[JPT][hapmap]
rs1259334	0.93[JPT][hapmap]
rs1259336	0.93[JPT][hapmap]
rs1259337	0.93[JPT][hapmap]
rs1259338	0.93[JPT][hapmap]
rs1267675	0.93[JPT][hapmap]
rs1270209	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs1716835	0.93[JPT][hapmap]
rs1733319	0.82[CHD][hapmap];0.93[JPT][hapmap]
rs2252084	0.85[JPT][hapmap]
rs2319821	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34182414	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3914889	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4408894	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4676792	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4676793	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5029440	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55662337	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55854851	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61797633	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61797634	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6438582	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6438583	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6777371	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8180105	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8180108	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874477	0.91[JPT][hapmap]
rs9631455	0.82[CHD][hapmap];0.93[JPT][hapmap]
rs9857229	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9870449	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[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
rs11713908	FSTL1	cis	cerebellum	SCAN
rs11713908	UMPS	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120217000-120225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:120217000-120225200	Weak transcription	Aorta	Aorta
3	chr3:120218000-120225000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:120218000-120225200	Weak transcription	Left Ventricle	heart
5	chr3:120218000-120225200	Weak transcription	Right Ventricle	heart
6	chr3:120218200-120222200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:120218200-120222800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:120218200-120226000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:120218400-120221800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:120218400-120222000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:120218400-120222200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:120218600-120224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:120218800-120222000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:120218800-120222000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:120219400-120223200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:120219400-120224400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:120219400-120224600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:120219800-120220800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:120219800-120221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:120219800-120222200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:120219800-120222800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:120219800-120225600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:120219800-120225800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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