Variant report

Variant	rs12161029
Chromosome Location	chr22:28943194-28943195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28934195..28936559-chr22:28940613..28943481,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12159808	1.00[AMR][1000 genomes]
rs12160448	1.00[AMR][1000 genomes]
rs12160862	1.00[AMR][1000 genomes]
rs5997402	1.00[AMR][1000 genomes]
rs6005753	1.00[AMR][1000 genomes]
rs6005787	1.00[AMR][1000 genomes]
rs6005791	1.00[AMR][1000 genomes]
rs6005836	1.00[AMR][1000 genomes]
rs6005845	1.00[AMR][1000 genomes]
rs7292515	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic 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 miRNA target site	83 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	chr22:28917600-28943200	Weak transcription	Left Ventricle	heart
2	chr22:28933600-28953800	Weak transcription	HSMMtube	muscle
3	chr22:28937000-28945600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:28937400-28950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:28937600-28946200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:28937600-28946400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:28939400-28943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr22:28939600-28944200	Weak transcription	Fetal Lung	lung
9	chr22:28939600-28946000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:28940200-28943200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:28941000-28943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:28942800-28943400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:28942800-28944000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:28942800-28944400	Enhancers	Osteobl	bone
15	chr22:28942800-28944600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr22:28942800-28944600	Enhancers	Fetal Brain Female	brain
17	chr22:28943000-28943800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:28943000-28944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:28943000-28944600	Enhancers	NHDF-Ad	bronchial
20	chr22:28943000-28944600	Enhancers	NHLF	lung
21	chr22:28943000-28944800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:28943000-28945800	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links