Variant report

Variant	rs12159414
Chromosome Location	chr22:27879967-27879968
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10427806	1.00[EUR][1000 genomes]
rs12165696	1.00[EUR][1000 genomes]
rs137145	1.00[EUR][1000 genomes]
rs16984497	1.00[EUR][1000 genomes]
rs16984534	1.00[EUR][1000 genomes]
rs16984627	1.00[EUR][1000 genomes]
rs16984638	1.00[EUR][1000 genomes]
rs2008329	1.00[EUR][1000 genomes]
rs2065061	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs520634	1.00[CEU][hapmap]
rs521076	1.00[CEU][hapmap]
rs5752574	1.00[EUR][1000 genomes]
rs5762216	1.00[EUR][1000 genomes]
rs5762219	1.00[EUR][1000 genomes]
rs5762223	1.00[EUR][1000 genomes]
rs5997259	1.00[EUR][1000 genomes]
rs6005462	1.00[EUR][1000 genomes]
rs6005466	1.00[EUR][1000 genomes]
rs6005472	1.00[EUR][1000 genomes]
rs6005473	1.00[EUR][1000 genomes]
rs6005474	1.00[EUR][1000 genomes]
rs6005475	1.00[EUR][1000 genomes]
rs6005478	1.00[EUR][1000 genomes]
rs60298679	1.00[EUR][1000 genomes]
rs73417186	1.00[EUR][1000 genomes]
rs738564	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	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	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
5	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27871800-27884600	Weak transcription	Right Atrium	heart
2	chr22:27873000-27884600	Weak transcription	Gastric	stomach
3	chr22:27875000-27881600	Weak transcription	NHEK	skin
4	chr22:27875200-27880000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:27876400-27880000	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr22:27876600-27883800	Weak transcription	Pancreas	Pancrea
7	chr22:27876800-27882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:27876800-27884800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:27877000-27884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:27877400-27883400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:27878000-27883800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:27879000-27883800	Weak transcription	Fetal Lung	lung
13	chr22:27879000-27884000	Weak transcription	Ovary	ovary
14	chr22:27879200-27880000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
15	chr22:27879400-27880000	Enhancers	A549	lung
16	chr22:27879800-27880000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr22:27879800-27880000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:27879800-27883400	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links