Variant report

Variant	rs7728422
Chromosome Location	chr5:52626599-52626600
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	chr5:52622570..52624504-chr5:52626467..52629222,3	K562	blood:

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

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

rs_ID	r²[population]
rs12186437	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12187206	1.00[EUR][1000 genomes]
rs13164822	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17341957	1.00[EUR][1000 genomes]
rs34511919	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34953700	0.91[AFR][1000 genomes]
rs35645771	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3846489	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6873167	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7704042	1.00[EUR][1000 genomes]
rs7737662	1.00[AMR][1000 genomes];1.00[EUR][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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1020388	chr5:52607736-52637122	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1016368	chr5:52607736-52640986	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52620200-52633600	Weak transcription	Esophagus	oesophagus
2	chr5:52620800-52626600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:52620800-52627400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:52622600-52627200	Weak transcription	HSMMtube	muscle
5	chr5:52622600-52627400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:52622800-52629000	Weak transcription	Aorta	Aorta
7	chr5:52623000-52626800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:52623000-52627200	Weak transcription	Hela-S3	cervix
9	chr5:52624000-52629200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:52624200-52626800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:52624200-52626800	Weak transcription	Osteobl	bone
12	chr5:52626000-52626800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:52626000-52627000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:52626000-52631600	Enhancers	NHLF	lung
15	chr5:52626000-52640000	Enhancers	HMEC	breast
16	chr5:52626200-52628800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:52626200-52631600	Enhancers	NHDF-Ad	bronchial
18	chr5:52626400-52626600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:52626400-52626600	Flanking Active TSS	NHEK	skin
20	chr5:52626400-52627800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:52626400-52627800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:52626400-52631800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links