Variant report

Variant	rs11998393
Chromosome Location	chr8:51715988-51715989
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:51711545..51713227-chr8:51715658..51718026,2	K562	blood:
2	chr8:51715941..51718504-chr8:51718568..51721133,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10087228	0.95[CEU][hapmap]
rs10099033	0.95[CEU][hapmap]
rs1018207	0.95[CEU][hapmap]
rs10216649	0.95[CEU][hapmap]
rs10958023	0.86[CEU][hapmap]
rs10958040	0.95[CEU][hapmap];0.94[JPT][hapmap]
rs10958055	0.95[CEU][hapmap];0.94[JPT][hapmap]
rs10958060	0.95[CEU][hapmap]
rs10958113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10958117	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10958177	0.84[EUR][1000 genomes]
rs10958178	0.84[EUR][1000 genomes]
rs11774637	0.95[CEU][hapmap]
rs11776122	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779072	0.95[CEU][hapmap]
rs11783089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786554	0.80[EUR][1000 genomes]
rs11988563	0.84[EUR][1000 genomes]
rs11988981	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11989031	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989688	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992235	0.83[EUR][1000 genomes]
rs11994633	0.83[EUR][1000 genomes]
rs11994756	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11997213	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216793	0.84[EUR][1000 genomes]
rs12375352	0.90[CEU][hapmap];0.94[JPT][hapmap]
rs12542977	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12546823	0.90[CEU][hapmap];0.94[JPT][hapmap]
rs12548479	0.95[CEU][hapmap];0.94[JPT][hapmap]
rs12675337	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13249513	0.84[EUR][1000 genomes]
rs13251151	0.84[EUR][1000 genomes]
rs13252863	0.94[JPT][hapmap]
rs13258440	0.95[CEU][hapmap];0.94[JPT][hapmap]
rs13264074	0.95[CEU][hapmap];0.94[JPT][hapmap]
rs13265913	0.81[EUR][1000 genomes]
rs13267665	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13268743	0.84[EUR][1000 genomes]
rs13268920	0.83[EUR][1000 genomes]
rs13271648	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1385049	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1396377	0.95[CEU][hapmap]
rs1484132	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1508624	0.95[CEU][hapmap];0.83[JPT][hapmap]
rs16915506	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1843079	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1911836	0.85[JPT][hapmap]
rs2048208	0.94[JPT][hapmap]
rs2069312	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34433731	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34473019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34871864	0.86[CEU][hapmap]
rs35108997	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35670134	0.84[EUR][1000 genomes]
rs35871453	0.83[EUR][1000 genomes]
rs35878664	0.83[EUR][1000 genomes]
rs4633069	0.84[EUR][1000 genomes]
rs4873155	0.95[CEU][hapmap]
rs4873161	0.84[EUR][1000 genomes]
rs4873480	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55818362	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55826462	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6473319	0.95[CEU][hapmap]
rs6980934	0.83[EUR][1000 genomes]
rs6990102	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs6992341	0.95[CEU][hapmap]
rs6992551	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs7009895	1.00[CEU][hapmap]
rs7016914	0.95[CEU][hapmap];0.94[JPT][hapmap]
rs7018197	0.95[CEU][hapmap]
rs713179	0.95[CEU][hapmap];0.94[JPT][hapmap]
rs7812344	0.90[CEU][hapmap]
rs7812888	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7826333	0.84[EUR][1000 genomes]
rs7831359	0.95[CEU][hapmap];0.94[JPT][hapmap]
rs7831651	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7832799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7834585	0.95[CEU][hapmap]
rs7844393	0.86[CEU][hapmap]
rs906656	0.88[JPT][hapmap]
rs9650276	1.00[ASN][1000 genomes]
rs985813	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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	chr8:51705000-51716800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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