Variant report

Variant	rs11718581
Chromosome Location	chr3:140105209-140105210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10513112	0.88[CEU][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes]
rs10513114	1.00[YRI][hapmap]
rs11706731	0.88[AMR][1000 genomes]
rs11710552	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11710635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11718058	0.88[MKK][hapmap]
rs12494858	0.87[EUR][1000 genomes]
rs12494862	0.87[EUR][1000 genomes]
rs1871494	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2170059	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4683492	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4683493	0.90[AMR][1000 genomes]
rs4683495	0.88[CEU][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.88[AMR][1000 genomes]
rs4683830	0.82[ASW][hapmap];0.96[CEU][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4683831	0.81[ASW][hapmap];0.88[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes]
rs4683834	0.88[CEU][hapmap];0.88[AMR][1000 genomes]
rs55643627	0.88[AMR][1000 genomes]
rs56169610	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62266365	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62266366	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62266370	0.88[AMR][1000 genomes]
rs7630806	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1001430	chr3:140016999-140186498	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv998953	chr3:140017168-140186984	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv536731	chr3:140017168-140186984	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv829741	chr3:140021063-140183294	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1004500	chr3:140021594-140189148	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	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
rs11718581	RASA2	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140090000-140105400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:140100400-140105400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:140102600-140107000	Enhancers	Ovary	ovary
4	chr3:140103000-140106000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:140103000-140106200	Enhancers	HSMMtube	muscle
6	chr3:140103200-140106000	Enhancers	HSMM	muscle
7	chr3:140103400-140105400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:140104000-140105800	Enhancers	Fetal Muscle Leg	muscle
9	chr3:140104400-140105600	Enhancers	Fetal Muscle Trunk	muscle
10	chr3:140104600-140105600	Enhancers	Fetal Kidney	kidney
11	chr3:140104600-140105800	Enhancers	Right Atrium	heart
12	chr3:140104800-140106000	Enhancers	K562	blood
13	chr3:140105000-140105400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:140105200-140105400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:140105200-140105400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:140105200-140105600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:140105200-140105600	Enhancers	Esophagus	oesophagus
18	chr3:140105200-140105600	Enhancers	Gastric	stomach
19	chr3:140105200-140105600	Enhancers	Lung	lung
20	chr3:140105200-140106000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr3:140105200-140106000	Enhancers	HepG2	liver
22	chr3:140105200-140106400	Enhancers	Liver	Liver

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