Variant report

Variant	rs10779261
Chromosome Location	chr1:216595306-216595307
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	chr1:216593418..216595910-chr1:216597223..216598829,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10863240	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11117565	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs11117568	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11117569	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11117573	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11117574	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11117575	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11117576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120757	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs11590382	0.84[CHB][hapmap]
rs11801737	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs12407759	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs1606357	0.84[JPT][hapmap]
rs1805050	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs2089947	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs2137402	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs2669050	0.92[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap]
rs2669051	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2669052	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap]
rs2669056	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2791289	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs2791290	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs2791292	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2809295	1.00[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap]
rs2809297	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2809300	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4253963	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4314947	0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4323773	0.81[CEU][hapmap]
rs4350256	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4396173	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4420153	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs4431908	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4443953	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4488081	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.84[YRI][hapmap]
rs4846428	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs4846660	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs6604551	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6604553	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7534756	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7539503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7544306	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7550759	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap]

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	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv523863	chr1:216517635-216629416	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216590600-216595400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:216593400-216596000	Enhancers	Liver	Liver

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