Variant report

Variant	rs5762128
Chromosome Location	chr22:27802721-27802722
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	chr22:27801848..27804523-chr22:27818644..27820694,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11705548	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16984522	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56237734	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5752541	0.95[EUR][1000 genomes]
rs5762126	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762127	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5762130	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5762131	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5762132	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73158457	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8184960	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27801600-27802800	Enhancers	HMEC	breast
2	chr22:27801600-27804000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:27801800-27803200	Enhancers	NHEK	skin
4	chr22:27801800-27803400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:27801800-27803800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:27801800-27804200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:27802000-27802800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:27802000-27802800	Enhancers	Pancreas	Pancrea
9	chr22:27802000-27803000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:27802200-27803000	Enhancers	Adipose Nuclei	Adipose
11	chr22:27802400-27802800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:27802400-27803400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:27802400-27804000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:27802400-27804200	Enhancers	NH-A	brain
15	chr22:27802600-27802800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:27802600-27802800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:27802600-27803000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:27802600-27803000	Enhancers	Fetal Muscle Leg	muscle
19	chr22:27802600-27804000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:27802600-27804000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr22:27802600-27804400	Enhancers	Brain Germinal Matrix	brain
22	chr22:27802600-27804400	Enhancers	Fetal Brain Male	brain

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