Variant report

Variant	rs4240382
Chromosome Location	chr5:124285111-124285112
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	chr5:124277456..124281279-chr5:124283449..124286238,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10072144	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4441871	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4458563	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4515296	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4530753	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4596380	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836126	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4836128	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595560	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6595563	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867388	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6871433	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6881509	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6889956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701121	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707774	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7735284	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8180492	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv599657	chr5:124284253-124330522	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4240382	ZNF608	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124283200-124286000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:124283400-124285600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:124283800-124285800	Enhancers	HMEC	breast
4	chr5:124283800-124286200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:124284000-124285400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:124284000-124285600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:124284000-124285600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:124284000-124285600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:124284000-124285800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:124284000-124285800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:124284000-124286000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:124284000-124286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:124284200-124286000	Enhancers	Fetal Heart	heart
14	chr5:124284200-124301800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:124284600-124285600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:124284800-124285400	Enhancers	Adipose Nuclei	Adipose
17	chr5:124284800-124294000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:124285000-124285600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:124285000-124287200	Weak transcription	Dnd41	blood
20	chr5:124285000-124288800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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