Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96413541..96415661-chr5:96445428..96448359,2	MCF-7	breast:
2	chr5:96440291..96443005-chr5:96446128..96448616,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10039917	0.89[AMR][1000 genomes]
rs11958159	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13154242	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13167931	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13173677	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs172723	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs186414	0.81[ASN][1000 genomes]
rs221970	0.81[ASN][1000 genomes]
rs316179	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316181	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316182	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316187	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs316188	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs316189	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs316216	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316217	0.90[AMR][1000 genomes]
rs316220	0.83[ASN][1000 genomes]
rs316221	0.88[ASN][1000 genomes]
rs316222	0.84[ASN][1000 genomes]
rs316225	0.81[ASN][1000 genomes]
rs7717829	0.87[AMR][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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96435000-96447400	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:96438600-96454800	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:96440800-96448600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:96441400-96448600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:96441800-96447200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:96442400-96460200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:96442600-96446600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:96443000-96447200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:96443200-96446400	Weak transcription	Fetal Intestine Small	intestine
10	chr5:96443200-96446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:96443400-96446200	Weak transcription	Fetal Intestine Large	intestine
12	chr5:96444200-96454000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:96446000-96453800	Weak transcription	Primary B cells from cord blood	blood

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