Variant report

Variant	rs9613399
Chromosome Location	chr22:27606184-27606185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11090478	0.82[AMR][1000 genomes]
rs2342399	0.82[AMR][1000 genomes]
rs2342400	0.82[AMR][1000 genomes]
rs2342401	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3888463	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs497365	0.86[AFR][1000 genomes]
rs497368	0.86[AFR][1000 genomes]
rs551334	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs561417	0.87[AFR][1000 genomes]
rs572784	0.83[EUR][1000 genomes]
rs8135373	0.82[AMR][1000 genomes]
rs9306437	0.82[AMR][1000 genomes]
rs9613397	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9941926	0.89[AMR][1000 genomes];0.81[ASN][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:31 , 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	chr22:27599800-27606200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:27602000-27606200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr22:27602000-27606200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:27602000-27606200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:27602400-27608200	Weak transcription	HSMM	muscle
9	chr22:27603000-27609600	Weak transcription	Aorta	Aorta
10	chr22:27604200-27606200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:27604200-27608800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:27604400-27606200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:27604400-27608000	Weak transcription	Adipose Nuclei	Adipose
14	chr22:27604600-27606400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:27604600-27606800	Weak transcription	A549	lung
16	chr22:27604600-27607600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:27604600-27608000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:27604600-27608200	Weak transcription	Spleen	Spleen
19	chr22:27604600-27608200	Weak transcription	NH-A	brain
20	chr22:27604600-27608600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:27604600-27608800	Weak transcription	Esophagus	oesophagus
22	chr22:27605200-27606600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:27605400-27610000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr22:27605600-27606200	Enhancers	NHEK	skin
25	chr22:27605800-27606200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:27605800-27606200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:27605800-27606400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:27606000-27606400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr22:27606000-27606800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr22:27606000-27607000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr22:27606000-27607200	Weak transcription	Fetal Intestine Large	intestine

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