Variant report

Variant	rs62225402
Chromosome Location	chr22:34121523-34121524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16992904	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16992908	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16992910	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs16992923	1.00[AFR][1000 genomes]
rs16992929	1.00[AFR][1000 genomes]
rs16992967	1.00[AFR][1000 genomes]
rs2267276	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2267279	1.00[AFR][1000 genomes]
rs2267280	1.00[AFR][1000 genomes]
rs2283935	1.00[AFR][1000 genomes]
rs62225403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62225404	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62225405	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62225407	1.00[AFR][1000 genomes]
rs62225408	1.00[AFR][1000 genomes]
rs62225410	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1055203	chr22:34098417-34196685	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv459878	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv588936	chr22:34106745-34226592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1060684	chr22:34108462-34140653	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv524432	chr22:34119866-34146368	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34105600-34133400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:34110800-34122200	Weak transcription	Aorta	Aorta
3	chr22:34111200-34146200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:34111800-34122000	Weak transcription	Fetal Stomach	stomach
5	chr22:34111800-34142800	Weak transcription	Fetal Intestine Small	intestine
6	chr22:34116400-34135800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:34116800-34122200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:34117200-34127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:34117400-34122400	Weak transcription	Liver	Liver
10	chr22:34118400-34121600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:34118400-34121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:34118400-34122400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:34118600-34121600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:34118800-34121600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:34118800-34121600	Enhancers	Right Ventricle	heart
16	chr22:34119000-34122000	Weak transcription	Fetal Brain Female	brain
17	chr22:34119200-34122600	Enhancers	Fetal Heart	heart
18	chr22:34119800-34121600	Enhancers	Primary B cells from peripheral blood	blood
19	chr22:34119800-34121800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr22:34119800-34124200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr22:34119800-34124800	Enhancers	Left Ventricle	heart
22	chr22:34120000-34121600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:34120200-34122600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr22:34120200-34125600	Weak transcription	Gastric	stomach
25	chr22:34120200-34125800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:34120200-34135600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:34120400-34135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:34120800-34122200	Weak transcription	Brain Anterior Caudate	brain
29	chr22:34120800-34124200	Enhancers	Colon Smooth Muscle	Colon
30	chr22:34120800-34127400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr22:34121000-34121600	Enhancers	Lung	lung
32	chr22:34121000-34122800	Enhancers	Psoas Muscle	Psoas
33	chr22:34121000-34124200	Enhancers	Pancreas	Pancrea
34	chr22:34121200-34122200	Enhancers	Stomach Smooth Muscle	stomach
35	chr22:34121200-34123000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:34121200-34123200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:34121200-34123400	Enhancers	Fetal Muscle Leg	muscle
38	chr22:34121200-34125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:34121200-34125800	Weak transcription	Spleen	Spleen
40	chr22:34121400-34122200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:34121400-34122400	Weak transcription	Right Atrium	heart
42	chr22:34121400-34123000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:34121400-34123000	Enhancers	NHEK	skin
44	chr22:34121400-34123000	Enhancers	NHLF	lung
45	chr22:34121400-34123800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr22:34121400-34124000	Enhancers	Rectal Smooth Muscle	rectum
47	chr22:34121400-34124800	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links