Variant report

Variant	rs59732345
Chromosome Location	chr8:55082377-55082378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:55047476..55049914-chr8:55081634..55083570,2	K562	blood:
2	chr8:55079715..55082663-chr8:55090104..55094116,3	K562	blood:
3	chr8:55082028..55084437-chr8:55372131..55374437,2	K562	blood:
4	chr8:55081633..55082449-chr8:55390402..55391359,5	MCF-7	breast:
5	chr8:55081646..55082487-chr8:55464074..55464861,2	MCF-7	breast:
6	chr8:55047476..55049382-chr8:55079513..55083134,3	K562	blood:
7	chr8:55081926..55082576-chr8:55468323..55469121,2	MCF-7	breast:
8	chr8:55081573..55082518-chr8:55196033..55196674,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137547	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10095087	0.97[AFR][1000 genomes]
rs11994008	0.83[AMR][1000 genomes]
rs57873951	0.95[AFR][1000 genomes]
rs73592947	0.85[AFR][1000 genomes]
rs73592950	0.81[AFR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55078800-55083000	Weak transcription	Lung	lung
2	chr8:55078800-55083800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:55078800-55084000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:55078800-55084400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:55079000-55082400	Weak transcription	Hela-S3	cervix
6	chr8:55079000-55083000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:55079000-55083000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:55079000-55083000	Weak transcription	Liver	Liver
9	chr8:55079000-55083000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:55079000-55083000	Weak transcription	Placenta	Placenta
11	chr8:55079000-55083000	Weak transcription	Ovary	ovary
12	chr8:55079000-55083000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:55079000-55083200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:55079000-55083200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:55079000-55083800	Weak transcription	NHEK	skin
16	chr8:55079000-55084000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:55079000-55084000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:55079000-55084000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:55079000-55084000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:55079000-55084000	Weak transcription	NH-A	brain
21	chr8:55079000-55084200	Weak transcription	NHDF-Ad	bronchial
22	chr8:55079000-55084400	Weak transcription	NHLF	lung
23	chr8:55079000-55085400	Weak transcription	K562	blood
24	chr8:55079000-55087200	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:55079000-55091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:55079200-55082800	Weak transcription	Adipose Nuclei	Adipose
27	chr8:55081600-55085600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:55081800-55082400	Enhancers	HMEC	breast
29	chr8:55081800-55082600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:55081800-55084800	Enhancers	HUVEC	blood vessel
31	chr8:55081800-55085000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:55081800-55086000	Enhancers	Stomach Smooth Muscle	stomach
33	chr8:55082000-55082400	Enhancers	A549	lung
34	chr8:55082000-55085200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr8:55082200-55083400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:55082200-55083400	Weak transcription	Colon Smooth Muscle	Colon

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