Variant report

Variant	rs28665553
Chromosome Location	chr4:122706447-122706448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122703955..122708206-chr4:122710788..122713882,5	K562	blood:
2	chr4:122698782..122701612-chr4:122704636..122706518,3	K562	blood:
3	chr4:122616437..122619642-chr4:122706327..122710278,3	K562	blood:
4	chr4:122704373..122708206-chr4:122711994..122714423,4	K562	blood:

Variant related genes	Relation type
ENSG00000164111	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10002280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105974	0.95[ASN][1000 genomes]
rs13106485	1.00[ASN][1000 genomes]
rs1532968	0.99[ASN][1000 genomes]
rs17517624	0.90[ASN][1000 genomes]
rs2661553	1.00[ASN][1000 genomes]
rs2661555	0.99[ASN][1000 genomes]
rs2706791	1.00[ASN][1000 genomes]
rs2706792	1.00[ASN][1000 genomes]
rs2706793	1.00[ASN][1000 genomes]
rs2706796	0.92[ASN][1000 genomes]
rs4240261	0.80[AMR][1000 genomes]
rs4295291	1.00[ASN][1000 genomes]
rs4342205	0.80[AMR][1000 genomes]
rs4370153	0.81[EUR][1000 genomes]
rs4519820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534319	0.80[AMR][1000 genomes]
rs6534321	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6534325	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6819870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823686	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6830128	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6836290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838198	0.99[ASN][1000 genomes]
rs7661641	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7665098	0.80[AMR][1000 genomes]
rs7690095	0.97[ASN][1000 genomes]
rs7690991	0.80[AMR][1000 genomes]
rs9999982	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122699400-122706600	Weak transcription	K562	blood
2	chr4:122705600-122707000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:122705600-122707000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:122705600-122707000	Enhancers	Placenta	Placenta
5	chr4:122705600-122707200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:122705600-122707200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:122705600-122707200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:122705600-122707400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:122705600-122707400	Enhancers	HMEC	breast
10	chr4:122705600-122707600	Enhancers	NHEK	skin
11	chr4:122705600-122708000	Enhancers	Fetal Heart	heart
12	chr4:122705600-122708200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:122706000-122706800	Enhancers	HUVEC	blood vessel
14	chr4:122706000-122707200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:122706000-122707400	Enhancers	Hela-S3	cervix
16	chr4:122706000-122707600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:122706000-122707600	Enhancers	NHLF	lung
18	chr4:122706200-122706800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:122706200-122707000	Enhancers	Right Atrium	heart
20	chr4:122706200-122707200	Enhancers	Lung	lung
21	chr4:122706400-122706800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:122706400-122706800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:122706400-122706800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:122706400-122706800	Flanking Active TSS	HSMM	muscle
25	chr4:122706400-122706800	Flanking Active TSS	HSMMtube	muscle
26	chr4:122706400-122706800	Flanking Active TSS	NH-A	brain
27	chr4:122706400-122706800	Flanking Active TSS	NHDF-Ad	bronchial
28	chr4:122706400-122707000	Enhancers	Right Ventricle	heart
29	chr4:122706400-122707000	Enhancers	A549	lung
30	chr4:122706400-122707200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr4:122706400-122707200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:122706400-122707200	Enhancers	Adipose Nuclei	Adipose
33	chr4:122706400-122707200	Enhancers	Brain Anterior Caudate	brain
34	chr4:122706400-122707200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr4:122706400-122707200	Enhancers	Fetal Muscle Leg	muscle
36	chr4:122706400-122707200	Enhancers	Left Ventricle	heart
37	chr4:122706400-122707200	Flanking Active TSS	Osteobl	bone
38	chr4:122706400-122707400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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