Variant report

Variant	rs6604634
Chromosome Location	chr1:216721255-216721256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10442683	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10442688	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs10495027	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs10495029	0.80[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs10863250	0.90[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs11117612	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11117613	0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs12067809	0.92[ASN][1000 genomes]
rs12130540	0.89[ASN][1000 genomes]
rs12137616	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12145418	0.84[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs12757165	0.90[CHB][hapmap];0.90[CHD][hapmap];0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs1566223	0.92[ASN][1000 genomes]
rs17611421	0.80[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs17667808	0.92[ASN][1000 genomes]
rs1833036	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1846223	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2377098	0.90[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs3929399	0.90[CHB][hapmap];0.95[CHD][hapmap];0.92[ASN][1000 genomes]
rs4147269	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs4147270	0.91[ASN][1000 genomes]
rs4147271	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs4294475	0.90[CHB][hapmap];0.91[ASN][1000 genomes]
rs4462218	0.90[ASN][1000 genomes]
rs4846520	0.90[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs4846521	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4846524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4846525	0.92[ASN][1000 genomes]
rs4846528	0.81[ASN][1000 genomes]
rs6604635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658528	0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6658786	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6673295	0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6673524	0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6676984	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6696225	0.83[ASW][hapmap];0.85[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.83[MEX][hapmap];0.90[MKK][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7534782	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs7542009	1.00[YRI][hapmap]
rs7544765	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv4565	chr1:216720070-216765053	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216705400-216734800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:216708800-216744600	Weak transcription	Left Ventricle	heart
3	chr1:216717600-216723200	Weak transcription	Fetal Muscle Leg	muscle

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