Variant report

Variant	rs1423396
Chromosome Location	chr5:41122710-41122711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41119689..41123287-chr5:41124152..41126947,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10051000	0.96[ASN][1000 genomes]
rs1014588	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1023840	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10454864	0.82[CHB][hapmap]
rs111000	0.96[ASN][1000 genomes]
rs11958837	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11959515	0.94[CEU][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.82[EUR][1000 genomes]
rs13155376	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13161475	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13179665	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13183645	0.96[ASN][1000 genomes]
rs13185161	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1423393	0.90[ASN][1000 genomes]
rs1423397	0.84[ASN][1000 genomes]
rs1423399	0.96[ASN][1000 genomes]
rs1423400	0.96[ASN][1000 genomes]
rs1423414	0.96[ASN][1000 genomes]
rs1423417	0.96[ASN][1000 genomes]
rs1593037	0.96[ASN][1000 genomes]
rs1822821	0.85[EUR][1000 genomes]
rs186573	0.95[ASN][1000 genomes]
rs2921176	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2962282	0.81[EUR][1000 genomes]
rs325811	0.96[ASN][1000 genomes]
rs325812	0.96[ASN][1000 genomes]
rs325814	0.96[ASN][1000 genomes]
rs325815	0.96[ASN][1000 genomes]
rs325880	0.94[ASN][1000 genomes]
rs325881	0.94[ASN][1000 genomes]
rs325882	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs34319315	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36091790	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366342	0.94[ASN][1000 genomes]
rs3805711	0.96[ASN][1000 genomes]
rs3805712	0.96[ASN][1000 genomes]
rs3805716	0.94[CEU][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs407399	0.94[ASN][1000 genomes]
rs4440413	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4957370	0.93[ASN][1000 genomes]
rs4957375	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4957377	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5024275	0.96[ASN][1000 genomes]
rs67047100	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68183441	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751687	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72753965	0.96[ASN][1000 genomes]
rs72753986	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9716828	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs993153	0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr5:41116400-41128400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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