Variant report

Variant	rs5998588
Chromosome Location	chr22:33091592-33091593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33088230..33090380-chr22:33090700..33092801,2	MCF-7	breast:
2	chr22:33086623..33088855-chr22:33091258..33093872,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

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]
rs5994606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994607	1.00[ASN][1000 genomes]
rs5998583	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998584	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998585	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998589	1.00[CHB][hapmap]
rs5998590	1.00[CHB][hapmap]
rs73881783	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33087000-33091600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr22:33088400-33093800	Enhancers	Hela-S3	cervix
3	chr22:33088800-33096200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:33089400-33092000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:33090600-33092000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:33090600-33094200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:33090600-33094200	Enhancers	Placenta	Placenta
8	chr22:33090800-33093600	Enhancers	HepG2	liver
9	chr22:33091000-33096000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:33091200-33096800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:33091200-33097600	Enhancers	HMEC	breast
12	chr22:33091400-33091600	Flanking Active TSS	NHEK	skin
13	chr22:33091400-33091800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:33091400-33091800	Enhancers	Esophagus	oesophagus
15	chr22:33091400-33091800	Enhancers	Stomach Mucosa	stomach
16	chr22:33091400-33092000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr22:33091400-33092200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:33091400-33092200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr22:33091400-33092400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:33091400-33092400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:33091400-33092400	Enhancers	Fetal Intestine Large	intestine
22	chr22:33091400-33092400	Enhancers	NH-A	brain
23	chr22:33091400-33092600	Enhancers	Fetal Intestine Small	intestine
24	chr22:33091400-33093000	Enhancers	HSMM	muscle
25	chr22:33091400-33093200	Enhancers	Osteobl	bone
26	chr22:33091400-33093400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:33091400-33093800	Enhancers	NHLF	lung
28	chr22:33091400-33094600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:33091400-33096200	Enhancers	NHDF-Ad	bronchial
30	chr22:33091400-33097200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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