Variant report

Variant	rs57553178
Chromosome Location	chr8:54795668-54795669
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	chr8:54795606..54798842-chr8:55046192..55048943,3	K562	blood:
2	chr8:54794718..54796302-chr8:54804147..54805948,2	K562	blood:

Variant related genes	Relation type
ENSG00000137547	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1004228	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10504158	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11985729	0.89[EUR][1000 genomes]
rs1384797	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1483538	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1483539	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1483540	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1483542	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919616	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1842982	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1842983	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1842984	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2062226	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2306584	0.84[EUR][1000 genomes]
rs4518622	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57546155	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58652215	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60696924	0.84[EUR][1000 genomes]
rs60819522	0.84[EUR][1000 genomes]
rs61231337	0.81[ASN][1000 genomes]
rs61433056	0.84[EUR][1000 genomes]
rs6994332	0.89[EUR][1000 genomes]
rs6997050	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6998532	0.84[EUR][1000 genomes]
rs7016171	0.89[EUR][1000 genomes]
rs7017291	0.84[EUR][1000 genomes]
rs7017967	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73680325	0.84[EUR][1000 genomes]
rs73680341	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73680342	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73680346	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7827611	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7831399	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7846259	0.84[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54792800-54796400	Active TSS	GM12878-XiMat	blood
2	chr8:54795000-54795800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:54795000-54796000	Weak transcription	K562	blood
4	chr8:54795000-54796600	Weak transcription	Hela-S3	cervix
5	chr8:54795200-54795800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:54795200-54795800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:54795200-54795800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr8:54795200-54796600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:54795200-54796800	Weak transcription	HSMM	muscle
10	chr8:54795200-54796800	Enhancers	NHDF-Ad	bronchial
11	chr8:54795200-54798200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:54795200-54798400	Weak transcription	HSMMtube	muscle
13	chr8:54795400-54796600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:54795400-54797000	Weak transcription	Osteobl	bone
15	chr8:54795400-54798200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:54795400-54799400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:54795600-54795800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:54795600-54795800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr8:54795600-54795800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
20	chr8:54795600-54795800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:54795600-54795800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:54795600-54795800	Enhancers	HUVEC	blood vessel
23	chr8:54795600-54795800	Genic enhancers	NHEK	skin
24	chr8:54795600-54795800	Active TSS	NHLF	lung
25	chr8:54795600-54796200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:54795600-54796200	Genic enhancers	A549	lung
27	chr8:54795600-54796800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:54795600-54796800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:54795600-54796800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:54795600-54796800	Weak transcription	NH-A	brain
31	chr8:54795600-54798000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:54795600-54798800	Enhancers	HMEC	breast
33	chr8:54795600-54801400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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