Variant report

Variant	rs4664494
Chromosome Location	chr2:152499580-152499581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152499221..152501472-chr2:152507320..152509759,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10167462	0.87[CEU][hapmap];0.84[GIH][hapmap]
rs10170273	0.89[ASW][hapmap];0.88[CEU][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10178880	0.88[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs10193188	0.82[CEU][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs1054883	0.84[GIH][hapmap];0.84[JPT][hapmap]
rs10930723	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10930740	0.81[EUR][1000 genomes]
rs11695661	0.82[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap]
rs11896217	0.82[GIH][hapmap]
rs11904536	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12052828	0.81[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs12328501	0.94[EUR][1000 genomes]
rs12464543	0.82[CEU][hapmap];0.85[GIH][hapmap]
rs12472627	0.87[GIH][hapmap]
rs12616767	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs12618063	0.83[CHB][hapmap];0.80[CHD][hapmap];0.85[GIH][hapmap]
rs12620077	0.84[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12693090	0.82[EUR][1000 genomes]
rs13032138	0.88[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13404704	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13428975	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1357468	0.83[GIH][hapmap]
rs1523181	0.82[GIH][hapmap]
rs1799	0.84[GIH][hapmap];0.84[JPT][hapmap]
rs3768658	0.82[GIH][hapmap]
rs4077121	0.82[CEU][hapmap]
rs4077122	0.81[CEU][hapmap]
rs4273217	0.81[CEU][hapmap];0.84[JPT][hapmap]
rs4289189	0.81[EUR][1000 genomes]
rs4300824	0.87[GIH][hapmap]
rs4374369	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs4381781	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs4393745	0.82[GIH][hapmap]
rs4413159	0.82[CEU][hapmap];0.88[GIH][hapmap]
rs4414677	0.87[GIH][hapmap]
rs4425075	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs4453694	0.80[GIH][hapmap]
rs4465763	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs4510224	0.82[GIH][hapmap]
rs4536649	0.88[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs4564765	0.97[EUR][1000 genomes]
rs4564766	0.82[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs4611637	0.81[CEU][hapmap];0.88[GIH][hapmap]
rs4614931	0.82[CEU][hapmap];0.86[GIH][hapmap]
rs4625904	0.82[CEU][hapmap];0.84[JPT][hapmap]
rs4664497	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs4664498	0.90[GIH][hapmap]
rs4664499	0.82[GIH][hapmap]
rs4664501	0.81[CEU][hapmap]
rs5005569	0.81[EUR][1000 genomes]
rs6433566	0.81[EUR][1000 genomes]
rs6433569	0.82[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap]
rs6433575	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs6711382	0.85[GIH][hapmap]
rs6712443	0.85[GIH][hapmap]
rs6712533	0.85[GIH][hapmap]
rs6713162	0.84[ASW][hapmap];0.88[CEU][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6716286	0.82[CEU][hapmap];0.88[GIH][hapmap]
rs6729101	0.81[GIH][hapmap]
rs6730589	0.82[CEU][hapmap]
rs6733811	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs6733909	0.82[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs6734148	0.82[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs6735208	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6760384	0.82[CEU][hapmap]
rs7424335	0.90[GIH][hapmap]
rs7426114	0.88[CEU][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs7563441	0.82[CEU][hapmap]
rs7564024	0.87[CEU][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs7564674	0.81[EUR][1000 genomes]
rs7596744	0.84[GIH][hapmap];0.83[JPT][hapmap]
rs9287990	0.88[CEU][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];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	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3429993	chr2:152497413-152502266	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4664494	NEB	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152482000-152502400	Strong transcription	Fetal Muscle Leg	muscle
2	chr2:152482000-152507600	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:152489600-152505200	Strong transcription	HSMMtube	muscle
4	chr2:152492000-152504000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:152492000-152506800	Weak transcription	Psoas Muscle	Psoas
6	chr2:152495000-152501800	Weak transcription	Right Ventricle	heart
7	chr2:152495200-152500000	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:152495200-152502400	Weak transcription	Aorta	Aorta
9	chr2:152497200-152500200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:152497800-152499800	Enhancers	HepG2	liver
11	chr2:152498000-152501400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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