Variant report

Variant	rs57873951
Chromosome Location	chr8:55076699-55076700
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:55065050..55068391-chr8:55075556..55078164,4	K562	blood:
2	chr8:55064028..55067964-chr8:55074664..55077779,3	K562	blood:
3	chr8:54933839..54936004-chr8:55076610..55079390,2	MCF-7	breast:
4	chr8:55063976..55066123-chr8:55076521..55079309,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251835	Chromatin interaction
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10081501	1.00[AMR][1000 genomes]
rs10087770	1.00[AMR][1000 genomes]
rs10095087	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10100207	1.00[AMR][1000 genomes]
rs28524857	1.00[AMR][1000 genomes]
rs28579846	1.00[AMR][1000 genomes]
rs59732345	0.95[AFR][1000 genomes]
rs73592947	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592950	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv429918	chr8:55069061-55124075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55061600-55078000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:55061600-55078400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:55062200-55078400	Weak transcription	Right Atrium	heart
4	chr8:55063400-55078400	Weak transcription	Ovary	ovary
5	chr8:55064000-55078000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:55064600-55078400	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:55064800-55078000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:55067200-55078000	Weak transcription	NHLF	lung
9	chr8:55067200-55078200	Weak transcription	Primary B cells from cord blood	blood
10	chr8:55067200-55078200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:55067200-55078200	Weak transcription	HSMM	muscle
12	chr8:55067200-55078200	Weak transcription	NHDF-Ad	bronchial
13	chr8:55067200-55078400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:55071600-55078200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:55071800-55078400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:55072000-55078200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:55072200-55078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:55075600-55078200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:55075600-55078200	Weak transcription	Fetal Lung	lung
20	chr8:55075800-55077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:55076400-55078000	Weak transcription	K562	blood

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