Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:220446026..220449283-chr1:220451004..220455196,4	K562	blood:
2	chr1:220448590..220453578-chr1:220456317..220461314,5	K562	blood:
3	chr1:220448675..220450303-chr1:220450612..220453414,2	K562	blood:
4	chr1:220445870..220448039-chr1:220448307..220450938,3	K562	blood:

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

rs_ID	r²[population]
rs10863537	0.81[ASN][1000 genomes]
rs11118508	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12402633	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12404532	0.88[EUR][1000 genomes]
rs12404566	0.81[EUR][1000 genomes]
rs12409065	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12411242	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12562531	0.85[ASN][1000 genomes]
rs1511695	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17565134	0.82[EUR][1000 genomes]
rs2048477	0.89[EUR][1000 genomes]
rs3814345	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4351641	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56074233	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57557703	0.81[EUR][1000 genomes]
rs59681037	0.81[EUR][1000 genomes]
rs72749210	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7526460	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7541290	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7543828	0.89[EUR][1000 genomes]
rs7551804	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs866978	0.89[EUR][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	chr1:220446600-220449800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:220446600-220451800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:220447400-220452400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:220448200-220450000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:220448200-220454200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:220448200-220455000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:220449000-220449400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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