Variant report

Variant	rs10854598
Chromosome Location	chr22:30664920-30664921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11705378	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10854598	SLC5A1	cis	parietal	SCAN
rs10854598	PATZ1	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30658200-30665200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr22:30659600-30673000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:30662200-30671800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:30662800-30667200	Enhancers	Primary hematopoietic stem cells	blood
5	chr22:30662800-30669600	Weak transcription	Brain Anterior Caudate	brain
6	chr22:30662800-30673400	Weak transcription	Right Atrium	heart
7	chr22:30663200-30670200	Weak transcription	Esophagus	oesophagus
8	chr22:30663600-30666600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:30663600-30673800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:30663800-30669600	Weak transcription	Brain Hippocampus Middle	brain
11	chr22:30663800-30674000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:30664000-30665000	Enhancers	Fetal Thymus	thymus
13	chr22:30664000-30673000	Weak transcription	Colonic Mucosa	Colon
14	chr22:30664200-30665000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr22:30664200-30665200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr22:30664200-30666600	Weak transcription	Thymus	Thymus
17	chr22:30664200-30669400	Weak transcription	Adipose Nuclei	Adipose
18	chr22:30664200-30670000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr22:30664400-30665200	Enhancers	Placenta	Placenta
20	chr22:30664400-30665400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr22:30664400-30667200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:30664400-30668000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr22:30664400-30671600	Weak transcription	Primary T cells from cord blood	blood
24	chr22:30664400-30671800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr22:30664400-30672200	Weak transcription	GM12878-XiMat	blood
26	chr22:30664600-30665000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:30664600-30665400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:30664600-30665800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr22:30664600-30671000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr22:30664600-30671200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr22:30664600-30671400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr22:30664600-30671600	Weak transcription	Spleen	Spleen
33	chr22:30664800-30665200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr22:30664800-30665400	Genic enhancers	Primary B cells from cord blood	blood
35	chr22:30664800-30665800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
36	chr22:30664800-30667200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr22:30664800-30669000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:30664800-30670800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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