Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:125826419..125828071-chr8:125978307..125980965,2	K562	blood:
2	chr8:125974353..125976403-chr8:125979440..125981150,2	MCF-7	breast:
3	chr8:125964812..125967573-chr8:125978469..125981385,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10095831	1.00[CEU][hapmap]
rs10104558	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105106	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10107103	1.00[CEU][hapmap]
rs10107456	1.00[CEU][hapmap]
rs10107535	1.00[CEU][hapmap]
rs10107774	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10110658	1.00[CEU][hapmap]
rs10113526	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10216983	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10481077	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10481078	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12334469	0.89[EUR][1000 genomes]
rs12335277	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs28828449	0.82[EUR][1000 genomes]
rs6990024	1.00[CEU][hapmap]
rs7003311	1.00[CEU][hapmap]
rs7007356	1.00[CEU][hapmap]
rs73706181	0.94[EUR][1000 genomes]
rs73706184	0.82[EUR][1000 genomes]
rs73706190	0.82[EUR][1000 genomes]
rs7812303	1.00[CEU][hapmap]
rs7828622	1.00[CEU][hapmap]
rs7829785	1.00[CEU][hapmap]
rs7830483	1.00[CEU][hapmap]
rs7830592	1.00[CEU][hapmap]
rs9297705	1.00[CEU][hapmap];0.82[EUR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 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	chr8:125969800-125985000	Weak transcription	Right Atrium	heart
2	chr8:125976200-125979800	Enhancers	Placenta	Placenta
3	chr8:125977400-125982000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:125977400-125985400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:125977600-125985200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:125977600-125985600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:125979400-125979800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:125979400-125979800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:125979400-125979800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:125979400-125979800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:125979400-125979800	Active TSS	Brain Anterior Caudate	brain
12	chr8:125979400-125980000	Enhancers	Brain Substantia Nigra	brain
13	chr8:125979400-125980400	Flanking Active TSS	HepG2	liver
14	chr8:125979600-125979800	Active TSS	Osteobl	bone
15	chr8:125979600-125980600	Enhancers	K562	blood
16	chr8:125979600-125985200	Weak transcription	Fetal Heart	heart

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