Variant report

Variant	rs132379
Chromosome Location	chr22:29610138-29610139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs132308	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs132312	0.85[EUR][1000 genomes]
rs132314	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs132315	0.82[EUR][1000 genomes]
rs132316	0.82[EUR][1000 genomes]
rs132317	0.85[EUR][1000 genomes]
rs132321	0.82[EUR][1000 genomes]
rs132323	0.85[EUR][1000 genomes]
rs132341	0.97[EUR][1000 genomes]
rs132348	0.82[CEU][hapmap];0.92[GIH][hapmap];0.89[TSI][hapmap];0.97[EUR][1000 genomes]
rs132350	0.82[CEU][hapmap];1.00[EUR][1000 genomes]
rs132351	1.00[EUR][1000 genomes]
rs132354	1.00[EUR][1000 genomes]
rs132363	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs132366	0.92[ASW][hapmap];0.82[CEU][hapmap];0.92[GIH][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs132367	0.92[ASW][hapmap];0.82[CEU][hapmap];0.92[GIH][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs132369	0.97[GIH][hapmap]
rs132370	0.82[CEU][hapmap];0.94[EUR][1000 genomes]
rs132372	0.97[GIH][hapmap]
rs132373	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132377	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[ASN][1000 genomes]
rs132378	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132380	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs132382	0.82[CEU][hapmap]
rs132386	0.82[CEU][hapmap]
rs469984	0.85[EUR][1000 genomes]
rs469985	0.95[EUR][1000 genomes]
rs713924	0.82[CEU][hapmap];0.82[EUR][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv1806500	chr22:29604787-29635071	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29602800-29611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:29602800-29616000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:29602800-29616000	Weak transcription	Ovary	ovary
4	chr22:29603000-29610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:29603400-29611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr22:29603800-29612600	Weak transcription	Brain Angular Gyrus	brain
7	chr22:29604000-29616200	Weak transcription	Thymus	Thymus
8	chr22:29604800-29612600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:29605000-29619400	Weak transcription	Colonic Mucosa	Colon
10	chr22:29605400-29612200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:29605400-29612600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr22:29605400-29614400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr22:29605400-29616000	Weak transcription	Lung	lung
14	chr22:29605800-29611200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr22:29605800-29611400	Weak transcription	Brain Germinal Matrix	brain
16	chr22:29605800-29612400	Weak transcription	Brain Anterior Caudate	brain
17	chr22:29605800-29612800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:29606000-29611800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:29606000-29612600	Weak transcription	Brain Hippocampus Middle	brain
20	chr22:29606200-29610200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:29606200-29611000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:29606200-29611800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:29606200-29616000	Strong transcription	Fetal Intestine Large	intestine
24	chr22:29607200-29612600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:29607600-29610400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:29607600-29612200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:29607600-29615000	Enhancers	Fetal Brain Male	brain
28	chr22:29607600-29615200	Weak transcription	Gastric	stomach
29	chr22:29607600-29616000	Strong transcription	Fetal Intestine Small	intestine
30	chr22:29607600-29621000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:29607600-29621000	Weak transcription	Esophagus	oesophagus
32	chr22:29607800-29610200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr22:29607800-29611600	Weak transcription	Fetal Lung	lung
34	chr22:29607800-29614000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:29607800-29616000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr22:29608000-29611000	Weak transcription	GM12878-XiMat	blood
37	chr22:29608600-29615200	Strong transcription	Dnd41	blood
38	chr22:29609000-29610200	Weak transcription	Fetal Muscle Leg	muscle
39	chr22:29609000-29611800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:29609200-29616400	Weak transcription	Fetal Kidney	kidney
41	chr22:29609400-29612200	Weak transcription	Pancreas	Pancrea
42	chr22:29609400-29615400	Strong transcription	Fetal Stomach	stomach
43	chr22:29609600-29610600	Enhancers	Fetal Brain Female	brain
44	chr22:29609600-29612400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:29610000-29615600	Genic enhancers	Spleen	Spleen

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