Variant report

Variant	rs7464187
Chromosome Location	chr8:125845291-125845292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125844772..125847545-chr8:125849110..125851069,2	K562	blood:
2	chr8:125843629..125846063-chr8:125847021..125848938,2	K562	blood:
3	chr8:125825994..125828112-chr8:125845201..125847041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12681718	0.95[YRI][hapmap]
rs4870929	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4870930	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4871557	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4871561	1.00[YRI][hapmap]
rs6470291	0.84[AFR][1000 genomes]
rs6470293	0.85[YRI][hapmap]
rs6990879	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7463657	0.84[AFR][1000 genomes]
rs9987227	1.00[YRI][hapmap];0.86[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	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
2	nsv528288	chr8:125838127-125847357	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125836400-125850800	Weak transcription	Right Atrium	heart
2	chr8:125842200-125845600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:125842400-125845800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:125842400-125846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:125842400-125846600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:125843000-125845400	Enhancers	NHEK	skin
7	chr8:125843400-125845400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:125843600-125845400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:125843600-125846400	Weak transcription	Fetal Heart	heart
10	chr8:125843600-125846600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:125843600-125846800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:125843600-125846800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:125843800-125845600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:125843800-125846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:125844000-125846600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:125844000-125846800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:125844600-125845600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:125844600-125845800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:125844600-125845800	Enhancers	Esophagus	oesophagus
20	chr8:125844800-125845400	Enhancers	HMEC	breast
21	chr8:125845000-125846000	Enhancers	K562	blood
22	chr8:125845000-125847400	Enhancers	Fetal Brain Male	brain
23	chr8:125845000-125847600	Enhancers	Fetal Muscle Leg	muscle
24	chr8:125845200-125845400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:125845200-125845400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:125845200-125847600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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