Variant report

Variant	rs10483139
Chromosome Location	chr22:28264974-28264975
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1000112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12167128	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12170161	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs138676	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs138679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16985690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17389267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17480137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17480313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17480369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17480565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17480971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17481471	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34844050	0.92[ASN][1000 genomes]
rs35386208	0.92[ASN][1000 genomes]
rs35633908	0.92[ASN][1000 genomes]
rs7286237	0.92[ASN][1000 genomes]
rs7286795	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7290640	0.92[ASN][1000 genomes]
rs8135697	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8141993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs926467	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	chr22:28252800-28265000	Weak transcription	K562	blood
5	chr22:28252800-28272600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:28253800-28279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:28254000-28279800	Weak transcription	Spleen	Spleen
8	chr22:28254200-28266600	Weak transcription	Fetal Brain Female	brain
9	chr22:28254200-28270200	Weak transcription	Right Ventricle	heart
10	chr22:28254400-28265200	Weak transcription	Brain Germinal Matrix	brain
11	chr22:28254600-28267400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr22:28255000-28271200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:28256000-28279800	Weak transcription	Colonic Mucosa	Colon
14	chr22:28256800-28268400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr22:28258200-28265800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:28258200-28267400	Weak transcription	Lung	lung
17	chr22:28258200-28267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:28258200-28275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:28258400-28266400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:28258600-28266400	Enhancers	Fetal Lung	lung
21	chr22:28259000-28267400	Enhancers	Fetal Intestine Small	intestine
22	chr22:28259000-28267800	Weak transcription	Pancreas	Pancrea
23	chr22:28259200-28266000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr22:28259200-28279800	Weak transcription	Esophagus	oesophagus
25	chr22:28259400-28265600	Weak transcription	Placenta	Placenta
26	chr22:28259400-28267200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr22:28259400-28267400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr22:28259600-28279600	Weak transcription	Gastric	stomach
29	chr22:28261400-28265000	Enhancers	Fetal Stomach	stomach
30	chr22:28261400-28265200	Enhancers	NHLF	lung
31	chr22:28261600-28265200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:28261800-28265800	Weak transcription	Psoas Muscle	Psoas
33	chr22:28261800-28267400	Enhancers	Fetal Intestine Large	intestine
34	chr22:28262000-28265200	Enhancers	Brain Anterior Caudate	brain
35	chr22:28262000-28265200	Enhancers	Fetal Kidney	kidney
36	chr22:28262200-28265000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
37	chr22:28262200-28266400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr22:28262200-28267400	Enhancers	Liver	Liver
39	chr22:28262400-28265800	Enhancers	Fetal Heart	heart
40	chr22:28262600-28265400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr22:28262800-28265200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:28262800-28270800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr22:28263000-28265000	Enhancers	Brain Hippocampus Middle	brain
44	chr22:28263000-28265200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:28263000-28265200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:28263000-28265200	Enhancers	Brain Cingulate Gyrus	brain
47	chr22:28263000-28266400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr22:28263200-28265200	Genic enhancers	HepG2	liver
49	chr22:28263200-28265800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr22:28263200-28266800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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