Variant report

Variant	rs28533479
Chromosome Location	chr8:91660111-91660112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91011918..91015233-chr8:91657389..91660471,3	K562	blood:
2	chr8:91658689..91660219-chr8:91675153..91678111,2	K562	blood:
3	chr8:91658346..91660853-chr8:101963137..101965882,2	K562	blood:
4	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
5	chr8:91658793..91660727-chr8:91811162..91813379,2	K562	blood:
6	chr8:91658730..91663792-chr8:91996044..91998781,4	K562	blood:
7	chr8:91656618..91662321-chr8:91871461..91875565,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000254251	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10089172	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10101451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16905097	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28480323	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28517725	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs28521858	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs28523907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28535464	0.89[AMR][1000 genomes]
rs28716641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4513931	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4588812	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58636900	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73694518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91659000-91660600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:91659000-91661200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:91659000-91661200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:91659000-91661200	Weak transcription	NHEK	skin
5	chr8:91659000-91661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:91659000-91661600	Weak transcription	Liver	Liver
7	chr8:91659200-91660200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:91659200-91661400	Weak transcription	HMEC	breast
9	chr8:91659200-91661600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:91659200-91662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:91659200-91662200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:91659400-91660200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:91659400-91661400	Weak transcription	HUVEC	blood vessel
14	chr8:91659400-91661600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:91659400-91662200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:91659400-91662800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:91659600-91661800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:91659800-91660200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr8:91659800-91660400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:91659800-91660400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:91659800-91660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:91659800-91661400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:91659800-91661600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:91659800-91661600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:91659800-91661800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:91659800-91663600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:91660000-91660600	Enhancers	K562	blood
28	chr8:91660000-91661600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:91660000-91661600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:91660000-91661600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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