Variant report

Variant	rs4422788
Chromosome Location	chr8:51681031-51681032
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	chr8:51677159..51678716-chr8:51680516..51682123,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10087228	0.80[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs10087953	0.89[AFR][1000 genomes]
rs10097209	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10097404	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10099033	0.95[JPT][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs10101076	0.80[ASN][1000 genomes]
rs10111045	0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1018207	0.80[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap]
rs10216649	0.80[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.82[ASN][1000 genomes]
rs10958023	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs10958061	0.83[ASN][1000 genomes]
rs10958065	0.92[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10958066	0.81[ASN][1000 genomes]
rs10958080	0.92[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs10958115	0.94[ASW][hapmap];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];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs10958117	1.00[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap]
rs10958140	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11775633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11785968	0.80[ASN][1000 genomes]
rs11986411	0.84[CEU][hapmap];0.80[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap]
rs12542948	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12681280	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12681303	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13251980	1.00[CEU][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.80[ASN][1000 genomes]
rs13252863	0.92[CEU][hapmap]
rs13258680	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13261493	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269724	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13273663	0.88[CEU][hapmap]
rs13277400	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1396377	0.80[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap]
rs1484129	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1508621	1.00[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1508622	0.92[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1508623	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs1567311	0.94[ASW][hapmap];0.92[CEU][hapmap];0.80[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs16915417	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1911835	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1911836	0.95[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2170856	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2170857	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202797	1.00[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap]
rs2392741	0.90[CHB][hapmap]
rs2392761	0.83[ASN][1000 genomes]
rs28470779	0.82[ASN][1000 genomes]
rs28647321	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs28683156	0.82[EUR][1000 genomes]
rs28815525	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs34486025	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34871864	0.80[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap]
rs35521388	0.83[ASN][1000 genomes]
rs3999808	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4242462	0.92[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap]
rs4382493	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873155	0.80[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.80[ASN][1000 genomes]
rs4873479	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6473292	0.80[ASN][1000 genomes]
rs6473319	0.80[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs6473337	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs6651341	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs66730072	0.83[ASN][1000 genomes]
rs6981207	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981429	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985321	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988562	1.00[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs6988854	0.92[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs6992341	0.95[JPT][hapmap];0.84[YRI][hapmap];0.82[ASN][1000 genomes]
rs6992551	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs7009895	0.81[YRI][hapmap];0.81[ASN][1000 genomes]
rs7011647	0.92[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7012338	0.80[ASN][1000 genomes]
rs7013183	0.83[ASN][1000 genomes]
rs7013366	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs7015370	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018197	0.80[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs717509	0.92[CEU][hapmap]
rs7460470	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7812344	0.80[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs7816024	0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7820724	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822224	0.88[ASW][hapmap];0.96[CEU][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7829079	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7831651	1.00[CEU][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap]
rs7833823	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834256	0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7834585	0.80[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs7844393	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs7845831	0.83[ASN][1000 genomes]
rs7846699	0.94[ASW][hapmap];1.00[CEU][hapmap];0.80[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap]
rs906656	0.92[CEU][hapmap]
rs936722	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9650276	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1027452	chr8:51525439-51725489	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019760	chr8:51628619-51862150	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1029698	chr8:51628619-51863635	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890874	chr8:51681031-51772697	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv890875	chr8:51681031-51780761	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51674000-51682800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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