Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96469286..96471593-chr5:96474372..96477073,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10039917	0.95[ASN][1000 genomes]
rs10043135	0.94[ASN][1000 genomes]
rs10071737	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1035507	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11954059	0.94[ASN][1000 genomes]
rs13167790	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs182625	0.90[ASN][1000 genomes]
rs2287903	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2544769	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs316178	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316190	0.94[ASN][1000 genomes]
rs316201	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316202	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316203	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316204	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316205	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316217	0.95[ASN][1000 genomes]
rs316218	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316219	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316223	0.82[ASN][1000 genomes]
rs316224	0.80[ASN][1000 genomes]
rs316232	0.90[ASN][1000 genomes]
rs316233	0.90[ASN][1000 genomes]
rs316234	0.90[ASN][1000 genomes]
rs444243	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7717829	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv830413	chr5:96450582-96509294	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96455400-96491800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:96456400-96478000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:96459800-96491800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:96461400-96470200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:96461600-96470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:96461600-96470400	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:96463600-96471600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:96466200-96470200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:96466400-96470200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:96467200-96474000	Weak transcription	Brain Anterior Caudate	brain
11	chr5:96467400-96471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:96468600-96471800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:96469200-96470200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:96469400-96470200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:96470000-96472400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:96470000-96475600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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