Variant report

Variant	rs1418971
Chromosome Location	chr1:210993071-210993072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1418973	0.94[JPT][hapmap]
rs1418974	0.89[JPT][hapmap]
rs1573159	0.92[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1630770	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs1777248	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1777249	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2357922	0.82[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap]
rs2358095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884335	0.82[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap]
rs2884381	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4245746	0.87[CHD][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4245750	0.82[JPT][hapmap]
rs4370814	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4532912	0.89[CHD][hapmap];0.89[JPT][hapmap]
rs4951641	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4951674	0.84[CHB][hapmap]
rs6540625	0.81[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6540626	0.82[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs6540630	0.82[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap]
rs6540631	0.82[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap]
rs7529524	0.94[JPT][hapmap]
rs9645355	0.82[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210977600-210993200	Weak transcription	HSMM	muscle
2	chr1:210990000-210995400	Weak transcription	Brain Angular Gyrus	brain
3	chr1:210991400-210996000	Weak transcription	Brain Hippocampus Middle	brain

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