Variant report

Variant	rs9625351
Chromosome Location	chr22:28272410-28272411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10483138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11090518	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12166069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12168796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170737	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12330032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985691	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985697	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985700	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985704	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985705	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985706	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985707	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16985718	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58520548	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59807513	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8140760	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926468	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9306449	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9306450	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620742	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620744	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620745	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620747	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625357	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28243800-28274000	Strong transcription	Dnd41	blood
2	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:28252800-28272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
6	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
7	chr22:28258200-28275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:28259200-28279800	Weak transcription	Esophagus	oesophagus
9	chr22:28259600-28279600	Weak transcription	Gastric	stomach
10	chr22:28263200-28273200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr22:28263400-28275400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr22:28263600-28273200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr22:28263600-28279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:28263800-28279800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:28264400-28276200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr22:28264600-28273800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:28264800-28273000	Strong transcription	NH-A	brain
18	chr22:28264800-28274000	Strong transcription	NHEK	skin
19	chr22:28264800-28275400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr22:28265200-28273000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:28265200-28274000	Weak transcription	Fetal Kidney	kidney
22	chr22:28265200-28275200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:28265600-28273400	Strong transcription	HMEC	breast
24	chr22:28266800-28275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr22:28266800-28279800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr22:28267000-28274200	Strong transcription	HUVEC	blood vessel
27	chr22:28267200-28276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:28267400-28273000	Genic enhancers	Fetal Intestine Small	intestine
29	chr22:28267600-28273000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:28267600-28277200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr22:28268000-28276200	Weak transcription	HepG2	liver
32	chr22:28268000-28279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:28268200-28279800	Weak transcription	Pancreas	Pancrea
34	chr22:28268600-28274400	Enhancers	Fetal Heart	heart
35	chr22:28268600-28275600	Enhancers	Brain Substantia Nigra	brain
36	chr22:28268600-28279800	Enhancers	Rectal Smooth Muscle	rectum
37	chr22:28268800-28272600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr22:28268800-28273000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:28268800-28275000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr22:28269000-28272600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr22:28269000-28274000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr22:28269000-28274800	Enhancers	Brain Anterior Caudate	brain
43	chr22:28269000-28275400	Enhancers	Brain Hippocampus Middle	brain
44	chr22:28269400-28272600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:28269400-28273200	Genic enhancers	GM12878-XiMat	blood
46	chr22:28269400-28274400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:28269600-28272600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr22:28269600-28272600	Genic enhancers	Osteobl	bone
49	chr22:28269600-28273000	Enhancers	Ovary	ovary
50	chr22:28269800-28272600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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