Variant report

Variant	rs7827239
Chromosome Location	chr8:130431312-130431313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130424297..130426458-chr8:130429983..130431740,3	K562	blood:
2	chr8:130429538..130431900-chr8:130434547..130436688,2	MCF-7	breast:
3	chr8:130427156..130429100-chr8:130430204..130432175,2	K562	blood:

Variant related genes	Relation type
ENSG00000253926	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1583246	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2016932	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568407	0.84[ASN][1000 genomes]
rs2568408	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568409	0.84[ASN][1000 genomes]
rs2568410	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568411	0.84[ASN][1000 genomes]
rs2568412	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568413	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568414	0.84[ASN][1000 genomes]
rs2579862	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579863	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2579864	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579868	0.84[ASN][1000 genomes]
rs2579875	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579876	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579877	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579878	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630511	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630512	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630513	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630515	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2630516	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2719194	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2719204	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2719209	0.84[ASN][1000 genomes]
rs2719222	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827366	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv6394	chr8:130421502-130446035	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 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	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130427000-130449000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130428000-130432800	Weak transcription	Adipose Nuclei	Adipose
4	chr8:130428400-130432400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:130428600-130432800	Weak transcription	GM12878-XiMat	blood
6	chr8:130429200-130432600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:130429400-130437600	Enhancers	Dnd41	blood
8	chr8:130429800-130434200	Weak transcription	Thymus	Thymus
9	chr8:130430200-130435600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:130430600-130431600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:130431000-130431800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:130431200-130431400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:130431200-130431600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr8:130431200-130431600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:130431200-130431800	Strong transcription	Fetal Thymus	thymus
16	chr8:130431200-130432800	Genic enhancers	K562	blood
17	chr8:130431200-130433000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:130431200-130436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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