Variant report

Variant	rs572784
Chromosome Location	chr22:27606778-27606779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1401522	0.81[AFR][1000 genomes]
rs3888463	0.93[CEU][hapmap];0.93[CHB][hapmap]
rs551334	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9613397	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9613399	0.83[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	nsv917333	chr22:26931825-27692024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	142 gene(s)	inside rSNPs	diseases
2	esv34168	chr22:27289097-27678031	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27593600-27608800	Weak transcription	Right Atrium	heart
2	chr22:27598400-27607800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr22:27599600-27608600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr22:27602400-27608200	Weak transcription	HSMM	muscle
5	chr22:27603000-27609600	Weak transcription	Aorta	Aorta
6	chr22:27604200-27608800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:27604400-27608000	Weak transcription	Adipose Nuclei	Adipose
8	chr22:27604600-27606800	Weak transcription	A549	lung
9	chr22:27604600-27607600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:27604600-27608000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:27604600-27608200	Weak transcription	Spleen	Spleen
12	chr22:27604600-27608200	Weak transcription	NH-A	brain
13	chr22:27604600-27608600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:27604600-27608800	Weak transcription	Esophagus	oesophagus
15	chr22:27605400-27610000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr22:27606000-27606800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr22:27606000-27607000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr22:27606000-27607200	Weak transcription	Fetal Intestine Large	intestine
19	chr22:27606200-27606800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:27606200-27606800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:27606200-27606800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr22:27606200-27606800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:27606200-27606800	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr22:27606200-27607000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr22:27606200-27607000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr22:27606200-27608200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:27606200-27608200	Weak transcription	NHEK	skin
28	chr22:27606400-27606800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr22:27606400-27607000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:27606400-27607000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr22:27606400-27608000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:27606400-27608400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:27606400-27610200	Enhancers	Fetal Intestine Small	intestine
34	chr22:27606600-27607000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr22:27606600-27608000	Weak transcription	Placenta	Placenta
36	chr22:27606600-27608200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:27606600-27608400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:27606600-27610000	Weak transcription	Brain Germinal Matrix	brain

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