Variant report

Variant	rs11948686
Chromosome Location	chr5:115674152-115674153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1001014	0.85[CEU][hapmap]
rs10519460	1.00[EUR][1000 genomes]
rs1073205	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956927	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs17139198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17139253	0.85[CEU][hapmap]
rs17139333	0.85[CEU][hapmap]
rs17139530	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17139552	0.92[EUR][1000 genomes]
rs17139556	1.00[EUR][1000 genomes]
rs17139565	1.00[EUR][1000 genomes]
rs17139591	1.00[EUR][1000 genomes]
rs17500032	1.00[ASN][1000 genomes]
rs1842003	1.00[ASN][1000 genomes]
rs1842004	1.00[ASN][1000 genomes]
rs4920909	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4920911	1.00[ASN][1000 genomes]
rs4920912	1.00[ASN][1000 genomes]
rs4920913	1.00[ASN][1000 genomes]
rs4920914	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4921071	0.85[CEU][hapmap]
rs4921073	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs4921085	0.85[CEU][hapmap]
rs4921092	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4921093	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4921095	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55702251	1.00[EUR][1000 genomes]
rs55817922	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56947773	1.00[EUR][1000 genomes]
rs57067978	1.00[EUR][1000 genomes]
rs57362825	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59570866	1.00[EUR][1000 genomes]
rs59951603	1.00[EUR][1000 genomes]
rs60052990	1.00[ASN][1000 genomes]
rs6594962	1.00[ASN][1000 genomes]
rs6594964	1.00[EUR][1000 genomes]
rs6594965	1.00[EUR][1000 genomes]
rs6859442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6860662	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap]
rs6861340	1.00[ASN][1000 genomes]
rs6874012	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878530	0.81[ASW][hapmap];0.85[CEU][hapmap];0.80[MKK][hapmap]
rs6888823	0.85[CEU][hapmap]
rs6893543	0.89[ASN][1000 genomes]
rs6893952	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712590	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73261067	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73263060	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263082	1.00[ASN][1000 genomes]
rs73263087	1.00[ASN][1000 genomes]
rs73264968	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73266811	1.00[EUR][1000 genomes]
rs73781050	1.00[EUR][1000 genomes]
rs7701174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7705979	1.00[EUR][1000 genomes]
rs7716629	1.00[EUR][1000 genomes]
rs7716923	1.00[EUR][1000 genomes]
rs7733187	0.85[CEU][hapmap]
rs7734398	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736793	0.81[ASW][hapmap];0.85[CEU][hapmap];0.81[MKK][hapmap]
rs7737229	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115649000-115692800	Weak transcription	Fetal Heart	heart
2	chr5:115666800-115683600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:115670800-115679600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:115670800-115679600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:115672200-115683400	Weak transcription	Primary B cells from cord blood	blood

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