Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:47921416..47925301-chr1:47925972..47930425,4	K562	blood:
2	chr1:47904811..47906452-chr1:47922256..47924549,2	K562	blood:
3	chr1:47923815..47926431-chr1:47927655..47930925,3	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10789508	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211538	0.93[ASN][1000 genomes]
rs12035995	0.80[CEU][hapmap];0.85[CHB][hapmap];0.89[AMR][1000 genomes]
rs12036198	0.93[AMR][1000 genomes]
rs12404237	0.86[AMR][1000 genomes]
rs17103251	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17103253	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3814005	0.80[CEU][hapmap];0.85[CHB][hapmap];0.94[AMR][1000 genomes]
rs4926858	0.80[CEU][hapmap];0.86[AMR][1000 genomes]
rs4926865	0.88[AMR][1000 genomes]
rs4926870	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4926871	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs533894	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs545670	0.83[AMR][1000 genomes]
rs6665045	0.88[AMR][1000 genomes]
rs6666370	0.80[CEU][hapmap]
rs6673789	0.83[AMR][1000 genomes]
rs6674100	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6689636	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697911	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72902514	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870357	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47918000-47924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:47921000-47925200	Weak transcription	Right Atrium	heart
3	chr1:47922800-47926400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:47923600-47925200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:47923600-47926400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr1:47923800-47925800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:47924200-47925200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr1:47924200-47925600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr1:47924200-47925600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr1:47924200-47926000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:47924200-47926200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr1:47924200-47926400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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