Variant report

Variant	rs59612810
Chromosome Location	chr8:54817423-54817424
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54805478..54808027-chr8:54814864..54817596,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs55665326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56078867	1.00[EUR][1000 genomes]
rs56304962	1.00[EUR][1000 genomes]
rs57145872	1.00[EUR][1000 genomes]
rs60106847	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60699716	1.00[EUR][1000 genomes]
rs61057223	1.00[EUR][1000 genomes]
rs61524906	1.00[EUR][1000 genomes]
rs61654796	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7012717	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587687	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587690	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589210	1.00[EUR][1000 genomes]
rs73589216	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589217	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589219	1.00[EUR][1000 genomes]
rs73589222	1.00[EUR][1000 genomes]
rs73589226	1.00[EUR][1000 genomes]
rs73589241	1.00[EUR][1000 genomes]
rs73589246	1.00[EUR][1000 genomes]
rs73589254	1.00[EUR][1000 genomes]
rs73680352	1.00[EUR][1000 genomes]
rs73680367	1.00[EUR][1000 genomes]
rs73680378	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680380	1.00[EUR][1000 genomes]
rs7830107	0.82[AMR][1000 genomes]
rs7842748	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842926	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843756	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7846507	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54809600-54818200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:54815800-54819800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:54815800-54819800	Enhancers	NHLF	lung
4	chr8:54815800-54819800	Enhancers	Osteobl	bone
5	chr8:54815800-54820000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:54815800-54821000	Enhancers	NHDF-Ad	bronchial
7	chr8:54816000-54817800	Enhancers	NH-A	brain
8	chr8:54816000-54818800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:54816000-54819600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:54816000-54819800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:54816000-54821000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:54816200-54819600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:54816200-54819600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:54816200-54819800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:54816400-54817800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:54816400-54818000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:54816400-54818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:54816400-54818000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:54816400-54818400	Enhancers	Fetal Stomach	stomach
20	chr8:54816400-54818600	Enhancers	Brain Anterior Caudate	brain
21	chr8:54816400-54819200	Enhancers	Fetal Muscle Leg	muscle
22	chr8:54816400-54819600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:54816600-54817600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:54816600-54817600	Weak transcription	HSMM	muscle
25	chr8:54816600-54817800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:54816600-54818000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:54816600-54818000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:54816600-54818000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:54816600-54818000	Weak transcription	NHEK	skin
30	chr8:54816600-54818200	Weak transcription	HMEC	breast
31	chr8:54816600-54818400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:54816600-54821200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:54817000-54818200	Enhancers	Brain Cingulate Gyrus	brain
34	chr8:54817000-54818400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:54817000-54818600	Enhancers	Brain Substantia Nigra	brain
36	chr8:54817000-54818600	Enhancers	Fetal Brain Male	brain
37	chr8:54817000-54818600	Enhancers	HUVEC	blood vessel
38	chr8:54817000-54819400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:54817000-54819600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:54817000-54819600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr8:54817000-54819600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:54817000-54819600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:54817000-54819800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:54817200-54817600	Flanking Active TSS	GM12878-XiMat	blood
45	chr8:54817200-54818600	Enhancers	Brain Germinal Matrix	brain
46	chr8:54817200-54818600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr8:54817200-54818600	Enhancers	Fetal Brain Female	brain
48	chr8:54817200-54818800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:54817200-54819400	Enhancers	A549	lung
50	chr8:54817200-54819600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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