Variant report

Variant	rs28524857
Chromosome Location	chr8:55056272-55056273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:55047433..55051176-chr8:55051187..55056877,7	K562	blood:

Variant related genes	Relation type
ENSG00000137547	Chromatin interaction

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

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

rs_ID	r²[population]
rs10081501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10087770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10095087	1.00[AMR][1000 genomes]
rs10100207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28579846	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670350	1.00[AFR][1000 genomes]
rs57873951	1.00[AMR][1000 genomes]
rs73592946	0.97[AFR][1000 genomes]
rs73592947	1.00[AMR][1000 genomes]
rs73592950	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55048600-55065600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:55048600-55066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:55048800-55063200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:55049000-55057600	Weak transcription	Psoas Muscle	Psoas
5	chr8:55049000-55061800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:55049000-55062000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:55049000-55065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:55049200-55056400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:55049200-55061600	Strong transcription	Osteobl	bone
10	chr8:55049200-55063800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:55049200-55063800	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr8:55049200-55064000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:55049200-55064000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:55049200-55064000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:55049200-55064000	Strong transcription	Fetal Intestine Large	intestine
16	chr8:55049200-55064200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr8:55049200-55064600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:55049400-55061600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr8:55049400-55063600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:55049400-55063800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:55049400-55064000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:55049400-55064000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:55049400-55064000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr8:55049400-55064600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:55049600-55062000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:55049600-55064000	Strong transcription	Adipose Nuclei	Adipose
27	chr8:55049800-55063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:55049800-55064000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:55050000-55063000	Strong transcription	HMEC	breast
30	chr8:55050000-55063800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr8:55050600-55063800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:55052000-55061600	Strong transcription	NH-A	brain
33	chr8:55052000-55061800	Strong transcription	K562	blood
34	chr8:55052200-55061400	Strong transcription	Hela-S3	cervix
35	chr8:55052200-55061800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:55052200-55063200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:55052400-55061600	Strong transcription	NHEK	skin
38	chr8:55052600-55062200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:55052600-55063200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:55052600-55065600	Weak transcription	Fetal Heart	heart
41	chr8:55053600-55060800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:55053600-55061400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:55053600-55061400	Strong transcription	NHLF	lung
44	chr8:55053600-55061800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr8:55053600-55061800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:55053600-55061800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:55053600-55063000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:55053600-55063800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:55053600-55064000	Strong transcription	Fetal Thymus	thymus
50	chr8:55053800-55062800	Strong transcription	Placenta	Placenta

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