Variant report

Variant	rs4283797
Chromosome Location	chr5:42579666-42579667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42577335..42580605-chr5:42585374..42588343,3	K562	blood:
2	chr5:42518684..42521037-chr5:42577892..42580696,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10941581	1.00[ASN][1000 genomes]
rs11954102	1.00[ASN][1000 genomes]
rs35227546	1.00[ASN][1000 genomes]
rs4330467	1.00[ASN][1000 genomes]
rs59463904	1.00[ASN][1000 genomes]
rs6870809	1.00[ASN][1000 genomes]
rs6887528	1.00[ASN][1000 genomes]
rs72754922	1.00[ASN][1000 genomes]
rs72754935	1.00[ASN][1000 genomes]
rs72754947	1.00[ASN][1000 genomes]
rs72754950	1.00[ASN][1000 genomes]
rs73087462	1.00[ASN][1000 genomes]
rs7700564	1.00[ASN][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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42568000-42581400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:42568000-42582200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:42568400-42581800	Weak transcription	Fetal Stomach	stomach
4	chr5:42568400-42582800	Weak transcription	Ovary	ovary
5	chr5:42571800-42581200	Weak transcription	Adipose Nuclei	Adipose
6	chr5:42571800-42583400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:42572200-42587800	Weak transcription	Left Ventricle	heart
8	chr5:42572400-42582800	Weak transcription	Right Ventricle	heart
9	chr5:42572800-42583000	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:42573000-42581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:42573000-42582000	Weak transcription	Fetal Lung	lung
12	chr5:42573600-42586600	Weak transcription	Psoas Muscle	Psoas
13	chr5:42576200-42581200	Enhancers	Liver	Liver
14	chr5:42578600-42580000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:42579000-42580000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:42579400-42579800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:42579400-42579800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:42579400-42579800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:42579400-42580000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:42579400-42580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:42579400-42580000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:42579600-42579800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:42579600-42579800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:42579600-42580000	Enhancers	NHDF-Ad	bronchial

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