Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220463505..220465025-chr1:220472451..220474318,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17565738	0.90[AMR][1000 genomes]
rs17566172	0.92[CEU][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17567252	0.85[AMR][1000 genomes]
rs17622257	1.00[ASN][1000 genomes]
rs17641091	0.81[AMR][1000 genomes]
rs55673394	0.81[AMR][1000 genomes]
rs55807644	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55914754	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55991348	0.85[AMR][1000 genomes]
rs56040283	0.81[AMR][1000 genomes]
rs56103229	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56129807	0.85[AMR][1000 genomes]
rs56232675	0.80[AMR][1000 genomes]
rs72730664	0.85[AMR][1000 genomes]
rs72730666	0.85[AMR][1000 genomes]
rs72730668	0.85[AMR][1000 genomes]
rs72749218	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72749219	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72749221	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72749222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72749226	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7519416	0.81[AMR][1000 genomes]
rs7520639	0.83[AMR][1000 genomes]
rs7521141	0.83[AMR][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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220463600-220465400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:220464200-220467000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:220464200-220470400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:220464200-220473600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:220464600-220471600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:220464600-220471600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:220464600-220473800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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