Variant report

Variant	rs4840423
Chromosome Location	chr8:9399619-9399620
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	chr8:9395511..9397201-chr8:9397334..9400300,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10090598	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10094314	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11774818	0.88[CEU][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes]
rs11775432	0.90[CEU][hapmap];0.86[AMR][1000 genomes]
rs11777891	0.88[AMR][1000 genomes]
rs11780046	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780274	0.87[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes]
rs11780757	0.86[AMR][1000 genomes]
rs11781665	0.97[EUR][1000 genomes]
rs11784858	0.90[AMR][1000 genomes]
rs11785485	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11991547	0.90[CEU][hapmap];0.88[JPT][hapmap]
rs11994018	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs13250838	0.85[CEU][hapmap]
rs13256939	0.95[AMR][1000 genomes]
rs13258733	0.95[AMR][1000 genomes]
rs13261385	0.90[CEU][hapmap];0.88[JPT][hapmap]
rs13261395	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13261660	0.95[AMR][1000 genomes]
rs13263825	0.84[AMR][1000 genomes]
rs13264510	0.89[CEU][hapmap]
rs13267100	0.81[AMR][1000 genomes]
rs13268770	0.83[AMR][1000 genomes]
rs13270240	0.91[AMR][1000 genomes]
rs13273330	0.81[AMR][1000 genomes]
rs13273771	0.84[AMR][1000 genomes]
rs13274310	0.85[CEU][hapmap];0.95[AMR][1000 genomes]
rs13276464	0.83[AMR][1000 genomes]
rs13282049	0.88[AMR][1000 genomes]
rs1393	0.87[CEU][hapmap];0.94[JPT][hapmap]
rs1471203	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17150201	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17150206	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34095920	0.95[AMR][1000 genomes]
rs34173677	0.81[AMR][1000 genomes]
rs34319155	0.86[AMR][1000 genomes]
rs34374861	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34393110	0.91[AMR][1000 genomes]
rs34622193	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34638238	0.83[AMR][1000 genomes]
rs34679455	0.83[AMR][1000 genomes]
rs34848966	0.95[AMR][1000 genomes]
rs34926681	0.81[AMR][1000 genomes]
rs34973657	0.91[AMR][1000 genomes]
rs35054885	0.83[AMR][1000 genomes]
rs35075657	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35197051	0.95[AMR][1000 genomes]
rs35200157	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35565635	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35617039	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35722901	0.91[AMR][1000 genomes]
rs35812948	0.81[AMR][1000 genomes]
rs35890521	0.95[AMR][1000 genomes]
rs4128324	0.87[CEU][hapmap];0.94[JPT][hapmap]
rs4272381	0.87[JPT][hapmap]
rs4376499	0.84[AMR][1000 genomes]
rs4458881	0.86[AMR][1000 genomes]
rs4493906	0.81[AMR][1000 genomes]
rs4535743	0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs4551359	0.87[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs4570159	0.87[CEU][hapmap];0.87[JPT][hapmap]
rs4840424	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840432	0.88[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes]
rs4841169	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4841171	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841172	0.90[AMR][1000 genomes]
rs4841186	0.90[CEU][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes]
rs4841195	0.88[JPT][hapmap]
rs55797444	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62493904	0.84[AMR][1000 genomes]
rs6601328	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7009486	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7013834	0.87[CEU][hapmap];0.95[AMR][1000 genomes]
rs71516518	0.95[AMR][1000 genomes]
rs7388554	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7839648	0.86[CEU][hapmap];0.94[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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:9390000-9409800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:9398000-9402200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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