Variant report

Variant	rs5998589
Chromosome Location	chr22:33095560-33095561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs5749530	1.00[CHB][hapmap]
rs5754317	1.00[CHB][hapmap]
rs5754319	1.00[CHB][hapmap]
rs5754320	1.00[CHB][hapmap]
rs5754321	1.00[CHB][hapmap]
rs5754322	1.00[CHB][hapmap]
rs5998584	1.00[CHB][hapmap]
rs5998585	1.00[CHB][hapmap]
rs5998588	1.00[CHB][hapmap]
rs5998590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33088800-33096200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:33091000-33096000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:33091200-33096800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:33091200-33097600	Enhancers	HMEC	breast
5	chr22:33091400-33096200	Enhancers	NHDF-Ad	bronchial
6	chr22:33091400-33097200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:33091600-33096800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr22:33091800-33096200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:33092200-33096000	Weak transcription	A549	lung
10	chr22:33092200-33096200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:33092200-33097200	Enhancers	Fetal Stomach	stomach
12	chr22:33092400-33096200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:33092400-33096400	Weak transcription	Stomach Mucosa	stomach
14	chr22:33092600-33097200	Enhancers	Fetal Muscle Leg	muscle
15	chr22:33093000-33096200	Weak transcription	HSMM	muscle
16	chr22:33093400-33097400	Enhancers	Fetal Lung	lung
17	chr22:33093800-33096000	Weak transcription	NHLF	lung
18	chr22:33094000-33097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr22:33094000-33097200	Enhancers	HepG2	liver
20	chr22:33094600-33096800	Enhancers	Placenta	Placenta
21	chr22:33094600-33097400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:33094800-33096800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:33094800-33097000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:33094800-33097400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:33094800-33097400	Enhancers	Adipose Nuclei	Adipose
26	chr22:33094800-33097600	Enhancers	Hela-S3	cervix
27	chr22:33095000-33095600	Enhancers	Psoas Muscle	Psoas
28	chr22:33095000-33095600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr22:33095000-33095800	Enhancers	Esophagus	oesophagus
30	chr22:33095000-33096400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:33095000-33096400	Enhancers	Fetal Muscle Trunk	muscle
32	chr22:33095000-33096400	Enhancers	Right Atrium	heart
33	chr22:33095000-33097000	Enhancers	NHEK	skin
34	chr22:33095200-33095600	Enhancers	Left Ventricle	heart
35	chr22:33095200-33095600	Enhancers	Right Ventricle	heart
36	chr22:33095200-33096000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr22:33095200-33096400	Enhancers	Lung	lung
38	chr22:33095200-33096400	Enhancers	Rectal Smooth Muscle	rectum
39	chr22:33095200-33096800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr22:33095400-33095600	Enhancers	HSMMtube	muscle
41	chr22:33095400-33096800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:33095400-33096800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:33095400-33097200	Enhancers	Osteobl	bone
44	chr22:33095400-33102600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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