Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50537654..50539269-chr7:50553300..50555389,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10268819	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499696	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575298	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575300	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575301	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575342	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575404	1.00[ASN][1000 genomes]
rs11575429	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765109	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771818	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1466163	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17553791	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17634771	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2167368	1.00[ASN][1000 genomes]
rs6593002	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952381	1.00[ASN][1000 genomes]
rs6975015	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975747	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342846	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809234	0.85[EUR][1000 genomes];1.00[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv606905	chr7:50544063-50565963	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50545800-50565800	Weak transcription	HepG2	liver
3	chr7:50548800-50556600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:50548800-50559600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:50548800-50559800	Weak transcription	Fetal Intestine Large	intestine
6	chr7:50548800-50564400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:50554600-50559800	Weak transcription	K562	blood

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