Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:90224688..90232317-chr5:90673389..90680405,10	MCF-7	breast:
2	chr5:90225975..90227595-chr5:90676781..90678399,2	K562	blood:
3	chr5:90226329..90230726-chr5:90675433..90680039,8	MCF-7	breast:
4	chr5:90225232..90227674-chr5:90676781..90680591,4	K562	blood:
5	chr5:90226409..90228083-chr5:93954382..93956455,2	K562	blood:
6	chr5:90225005..90226944-chr5:90678568..90680591,3	K562	blood:
7	chr5:90164948..90167314-chr5:90226111..90227794,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133302	Chromatin interaction
ENSG00000113369	Chromatin interaction

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

rs_ID	r²[population]
rs10942608	1.00[LWK][hapmap]
rs17554631	1.00[LWK][hapmap]
rs55908755	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55914710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57830245	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58617853	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58790039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58911687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59167728	1.00[EUR][1000 genomes]
rs60125173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60272312	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60564653	1.00[AMR][1000 genomes]
rs6888277	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771112	1.00[EUR][1000 genomes]
rs73771116	1.00[EUR][1000 genomes]
rs73771125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771130	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771136	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73771164	0.85[AFR][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90185000-90226600	Weak transcription	K562	blood
2	chr5:90208000-90231000	Weak transcription	Brain Anterior Caudate	brain
3	chr5:90225600-90226600	Enhancers	Liver	Liver
4	chr5:90225600-90226800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:90225600-90229600	Weak transcription	Placenta	Placenta
6	chr5:90225600-90232400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:90225800-90226800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:90225800-90228400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:90225800-90230200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:90225800-90236200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:90225800-90244000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:90226000-90228200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:90226200-90226800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:90226200-90227800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:90226200-90228400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:90226200-90228800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:90226400-90226800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:90226400-90226800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:90226400-90226800	Enhancers	A549	lung

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