Variant report

Variant	rs9625347
Chromosome Location	chr22:28265700-28265701
allele	G/T
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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11090518	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166069	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12170186	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12170737	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12330032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16985691	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985700	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16985704	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985705	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985706	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985707	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985718	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58520548	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59807513	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8140760	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8142920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs926468	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306449	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306450	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620742	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620744	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620745	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620747	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625350	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625357	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	chr22:28251600-28267400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:28252800-28272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
7	chr22:28254200-28266600	Weak transcription	Fetal Brain Female	brain
8	chr22:28254200-28270200	Weak transcription	Right Ventricle	heart
9	chr22:28254600-28267400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr22:28255000-28271200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
12	chr22:28256800-28268400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:28258200-28265800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:28258200-28267400	Weak transcription	Lung	lung
15	chr22:28258200-28267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:28258200-28275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:28258400-28266400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr22:28258600-28266400	Enhancers	Fetal Lung	lung
19	chr22:28259000-28267400	Enhancers	Fetal Intestine Small	intestine
20	chr22:28259000-28267800	Weak transcription	Pancreas	Pancrea
21	chr22:28259200-28266000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr22:28259200-28279800	Weak transcription	Esophagus	oesophagus
23	chr22:28259400-28267200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr22:28259400-28267400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr22:28259600-28279600	Weak transcription	Gastric	stomach
26	chr22:28261800-28265800	Weak transcription	Psoas Muscle	Psoas
27	chr22:28261800-28267400	Enhancers	Fetal Intestine Large	intestine
28	chr22:28262200-28266400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
29	chr22:28262200-28267400	Enhancers	Liver	Liver
30	chr22:28262400-28265800	Enhancers	Fetal Heart	heart
31	chr22:28262800-28270800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:28263000-28266400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:28263200-28265800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr22:28263200-28266800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:28263200-28271600	Strong transcription	Primary T cells from cord blood	blood
36	chr22:28263200-28273200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr22:28263400-28267400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:28263400-28269000	Weak transcription	Fetal Brain Male	brain
39	chr22:28263400-28275400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr22:28263600-28266400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr22:28263600-28266600	Enhancers	Duodenum Mucosa	Duodenum
42	chr22:28263600-28267400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr22:28263600-28268600	Weak transcription	Brain Substantia Nigra	brain
44	chr22:28263600-28271200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr22:28263600-28273200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr22:28263600-28279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:28263800-28265800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr22:28263800-28265800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr22:28263800-28266000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:28263800-28266000	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links