Variant report

Variant	rs1351313
Chromosome Location	chr3:140014763-140014764
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140009863..140012696-chr3:140014385..140017496,3	K562	blood:
2	chr3:140009863..140011937-chr3:140014588..140017496,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1006877	0.88[GIH][hapmap]
rs1006878	0.86[GIH][hapmap]
rs1011758	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs1026773	0.84[GIH][hapmap]
rs1026778	0.86[GIH][hapmap]
rs10513102	1.00[CHB][hapmap]
rs1154766	0.88[GIH][hapmap]
rs11708993	0.88[CEU][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs11714825	0.86[GIH][hapmap]
rs11719890	0.86[GIH][hapmap]
rs13066966	0.81[EUR][1000 genomes]
rs1383021	0.87[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1466461	0.82[AMR][1000 genomes]
rs1479868	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs1479869	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs1479871	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1531637	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17345403	0.88[GIH][hapmap]
rs2061929	0.85[CEU][hapmap]
rs4327349	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs4683485	1.00[CHB][hapmap]
rs6765022	0.85[CEU][hapmap]
rs6766541	0.88[GIH][hapmap]
rs6770286	0.86[GIH][hapmap]
rs6770610	0.86[GIH][hapmap]
rs6777920	0.82[GIH][hapmap]
rs6784585	0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap]
rs6786128	0.88[GIH][hapmap]
rs6792173	0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.81[AMR][1000 genomes]
rs6794692	0.86[GIH][hapmap]
rs6797652	0.88[GIH][hapmap]
rs6802157	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6810326	0.88[GIH][hapmap]
rs7611205	0.86[GIH][hapmap]
rs7630996	0.93[GIH][hapmap]
rs9289603	0.93[GIH][hapmap]
rs9832534	0.91[GIH][hapmap]
rs9855259	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9864847	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9874598	0.84[GIH][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	nsv432486	chr3:139924092-140049121	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv829740	chr3:139925767-140106169	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460867	chr3:140007294-140180563	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv591861	chr3:140007294-140180563	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv34489	chr3:140009020-140469302	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv2757012	chr3:140009220-140460228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv818169	chr3:140014763-140182046	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1351313	FOXL2	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139999600-140015600	Weak transcription	Pancreas	Pancrea
2	chr3:140004400-140015600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:140004800-140015600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:140009400-140015400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:140009800-140017800	Weak transcription	Right Atrium	heart
6	chr3:140010600-140014800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:140012200-140015400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:140012200-140015600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:140012200-140018600	Weak transcription	HSMMtube	muscle
10	chr3:140012400-140015600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:140012400-140015600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:140012400-140015600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:140012400-140015600	Weak transcription	Ovary	ovary
14	chr3:140012400-140015600	Weak transcription	NHDF-Ad	bronchial
15	chr3:140012400-140018000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:140012600-140015600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:140012800-140015200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:140013800-140015600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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