Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124584663..124587357-chr8:124599292..124601707,2	MCF-7	breast:
2	chr8:124586343..124588020-chr8:124589578..124591593,2	K562	blood:

Variant related genes	Relation type
ENSG00000251840	Chromatin interaction

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

rs_ID	r²[population]
rs10505433	0.81[EUR][1000 genomes]
rs12541091	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12545624	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12549584	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16898561	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16898563	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16898583	1.00[CEU][hapmap];0.80[CHB][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16898594	0.91[EUR][1000 genomes]
rs16898607	0.91[EUR][1000 genomes]
rs16898612	0.87[CEU][hapmap];0.90[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs16898613	0.87[CEU][hapmap];0.91[EUR][1000 genomes]
rs16898624	0.91[EUR][1000 genomes]
rs56804846	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58536265	0.89[EUR][1000 genomes]
rs59498777	0.89[EUR][1000 genomes]
rs59621056	0.89[EUR][1000 genomes]
rs60114686	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7006769	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7018353	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73335873	0.89[EUR][1000 genomes]
rs9642866	0.96[AMR][1000 genomes];0.87[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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124575600-124598600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:124582600-124588400	Enhancers	Fetal Muscle Leg	muscle
3	chr8:124582600-124588400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:124583200-124588000	Enhancers	Psoas Muscle	Psoas
5	chr8:124584600-124587400	Enhancers	Placenta	Placenta
6	chr8:124585000-124587400	Enhancers	Adipose Nuclei	Adipose
7	chr8:124585200-124590000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:124586000-124587800	Enhancers	Rectal Smooth Muscle	rectum
9	chr8:124586200-124587600	Enhancers	Colon Smooth Muscle	Colon
10	chr8:124586200-124589400	Enhancers	Fetal Intestine Large	intestine
11	chr8:124586400-124587200	Enhancers	Fetal Heart	heart
12	chr8:124586400-124587400	Enhancers	HSMM	muscle
13	chr8:124586400-124587800	Enhancers	HSMMtube	muscle
14	chr8:124586600-124588400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr8:124586800-124587200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:124586800-124589400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:124587000-124587800	Weak transcription	Small Intestine	intestine
18	chr8:124587000-124590000	Enhancers	Fetal Intestine Small	intestine

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