Variant report

Variant	rs922430
Chromosome Location	chr5:111482169-111482170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111474504..111476934-chr5:111480612..111482796,2	K562	blood:
2	chr5:111480523..111483778-chr5:111495014..111499185,3	K562	blood:
3	chr5:111481966..111483970-chr5:111488869..111491337,2	K562	blood:
4	chr5:111480653..111483715-chr5:111488508..111491421,3	K562	blood:

Variant related genes	Relation type
ENSG00000238363	Chromatin interaction
ENSG00000224032	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs149385	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17134157	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17134218	1.00[CEU][hapmap]
rs17134223	1.00[CEU][hapmap]
rs17134224	1.00[CEU][hapmap]
rs17134225	1.00[CEU][hapmap]
rs17134226	1.00[CEU][hapmap]
rs17134228	1.00[CEU][hapmap]
rs17134244	1.00[CEU][hapmap]
rs17134250	1.00[CEU][hapmap]
rs17319480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17319543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs173584	0.87[EUR][1000 genomes]
rs30284	0.87[EUR][1000 genomes]
rs30289	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs30290	0.87[EUR][1000 genomes]
rs30291	0.87[EUR][1000 genomes]
rs30292	0.87[EUR][1000 genomes]
rs30293	0.87[EUR][1000 genomes]
rs376888	0.87[EUR][1000 genomes]
rs42484	0.87[EUR][1000 genomes]
rs459921	0.87[EUR][1000 genomes]
rs466009	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56071484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56198310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7715098	1.00[CEU][hapmap]
rs7723060	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv599370	chr5:111419303-111485372	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111481200-111482800	Enhancers	Adipose Nuclei	Adipose
2	chr5:111481200-111482800	Enhancers	Fetal Lung	lung
3	chr5:111481200-111483200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:111481400-111482400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:111481400-111482800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:111481400-111482800	Enhancers	Fetal Heart	heart
7	chr5:111481400-111482800	Enhancers	NHLF	lung
8	chr5:111481400-111482800	Enhancers	Osteobl	bone
9	chr5:111481600-111482600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:111481600-111482600	Enhancers	Fetal Muscle Leg	muscle
11	chr5:111481600-111482600	Enhancers	Rectal Smooth Muscle	rectum
12	chr5:111481600-111482600	Enhancers	HSMMtube	muscle
13	chr5:111481600-111482800	Flanking Active TSS	GM12878-XiMat	blood
14	chr5:111481600-111482800	Enhancers	HMEC	breast
15	chr5:111481600-111482800	Enhancers	NHDF-Ad	bronchial
16	chr5:111481600-111483000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:111481800-111482200	Enhancers	Fetal Stomach	stomach
18	chr5:111481800-111482600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:111481800-111482600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:111481800-111482600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:111481800-111482600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:111481800-111482600	Enhancers	HSMM	muscle
23	chr5:111481800-111482800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:111481800-111482800	Enhancers	Liver	Liver
25	chr5:111481800-111482800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:111481800-111482800	Enhancers	NHEK	skin
27	chr5:111482000-111482200	Enhancers	Left Ventricle	heart
28	chr5:111482000-111482200	Flanking Active TSS	NH-A	brain
29	chr5:111482000-111482400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:111482000-111482600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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