Variant report

Variant	rs4478778
Chromosome Location	chr1:184338545-184338546
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	chr1:184333608..184335911-chr1:184337854..184340394,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10158710	0.84[CEU][hapmap]
rs10494580	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10737252	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10752936	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10752937	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10797960	0.92[EUR][1000 genomes]
rs10797961	0.95[EUR][1000 genomes]
rs10797964	0.83[ASW][hapmap]
rs10911589	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10911590	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10911591	0.90[CHB][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10911592	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10911594	0.90[CHB][hapmap]
rs12029316	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12070787	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12093839	0.94[CEU][hapmap]
rs16823101	0.90[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs4326589	0.90[CHB][hapmap];0.88[CHD][hapmap];0.83[ASN][1000 genomes]
rs4384189	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4512607	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4631655	0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4991700	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4991703	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6424950	0.90[CHB][hapmap];0.88[CHD][hapmap];0.83[ASN][1000 genomes]
rs6659035	0.93[EUR][1000 genomes]
rs6660217	0.90[CHB][hapmap]
rs6678278	0.80[CEU][hapmap];0.83[CHB][hapmap]
rs6692317	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6696270	0.90[CHB][hapmap]
rs732959	0.90[CHB][hapmap]
rs7367466	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7415961	0.90[CHB][hapmap];0.88[CHD][hapmap];0.83[ASN][1000 genomes]
rs7536226	0.91[ASW][hapmap]
rs7542578	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv3821	chr1:184319543-184365236	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:184337400-184340200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:184337400-184355000	Weak transcription	Psoas Muscle	Psoas

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