Variant report

Variant	rs56020558
Chromosome Location	chr4:95334681-95334682
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95334176..95336267-chr4:95337971..95340580,2	K562	blood:
2	chr4:95332786..95335416-chr4:95374983..95376965,3	K562	blood:
3	chr4:95333183..95336319-chr4:95372192..95375402,3	MCF-7	breast:
4	chr4:95331125..95332680-chr4:95333938..95335718,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10011690	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10011765	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1593555	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1896117	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1896118	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1960282	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2902981	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4359908	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699265	0.82[EUR][1000 genomes]
rs4699834	0.82[ASN][1000 genomes]
rs4699848	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699849	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699851	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55770704	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56389448	0.88[ASN][1000 genomes]
rs59408296	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60613894	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60852827	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66649743	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67100471	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67192700	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67524120	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67636336	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67798520	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67843621	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72667605	0.82[EUR][1000 genomes];0.99[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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95328600-95335400	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:95329200-95335800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr4:95333000-95334800	Enhancers	NHDF-Ad	bronchial
4	chr4:95333200-95335600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:95333400-95334800	Enhancers	HSMM	muscle
6	chr4:95333400-95334800	Flanking Active TSS	HUVEC	blood vessel
7	chr4:95333600-95335000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:95333600-95335000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:95333800-95335000	Enhancers	Colon Smooth Muscle	Colon
10	chr4:95333800-95335000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr4:95334000-95335000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:95334000-95335000	Enhancers	A549	lung
13	chr4:95334000-95335400	Weak transcription	Left Ventricle	heart
14	chr4:95334000-95335400	Weak transcription	Psoas Muscle	Psoas
15	chr4:95334000-95335600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:95334000-95335800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:95334200-95335000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:95334200-95335000	Enhancers	Adipose Nuclei	Adipose
19	chr4:95334200-95335000	Enhancers	NH-A	brain
20	chr4:95334200-95335800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:95334200-95337200	Enhancers	Fetal Heart	heart
22	chr4:95334400-95335000	Enhancers	Ovary	ovary
23	chr4:95334400-95335200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:95334400-95335200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:95334400-95335200	Enhancers	NHLF	lung
26	chr4:95334400-95335400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr4:95334400-95335600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:95334400-95335800	Enhancers	Hela-S3	cervix
29	chr4:95334400-95335800	Enhancers	HSMMtube	muscle
30	chr4:95334400-95335800	Enhancers	Osteobl	bone
31	chr4:95334400-95336000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr4:95334400-95346400	Weak transcription	Aorta	Aorta
33	chr4:95334600-95335000	Enhancers	Liver	Liver
34	chr4:95334600-95335600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:95334600-95335800	Enhancers	HepG2	liver
36	chr4:95334600-95337600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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