Variant report

Variant	rs9523326
Chromosome Location	chr13:92052108-92052109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:92051686..92054316-chr13:92235885..92238525,2	K562	blood:
2	chr13:92027534..92028128-chr13:92051898..92052619,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1330065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2147190	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759452	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325533	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7983063	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9515921	0.97[ASN][1000 genomes]
rs9523312	0.82[GIH][hapmap]
rs9523321	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	esv1803618	chr13:91669587-92277699	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1945 gene(s)	inside rSNPs	diseases
4	nsv1050259	chr13:91759549-92152078	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
5	nsv541872	chr13:91759549-92152078	Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
6	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9523326	GPC5	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92050200-92052600	Active TSS	Brain Cingulate Gyrus	brain
2	chr13:92050400-92052600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr13:92050400-92052600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:92050600-92052200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr13:92050600-92052200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:92050600-92052400	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr13:92050600-92052600	Active TSS	Brain Substantia Nigra	brain
8	chr13:92050600-92053200	Active TSS	Brain Anterior Caudate	brain
9	chr13:92050600-92055200	Active TSS	Hela-S3	cervix
10	chr13:92051000-92052800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:92051200-92052200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
12	chr13:92051400-92052200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
13	chr13:92051400-92052200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
14	chr13:92051400-92052200	Bivalent Enhancer	Esophagus	oesophagus
15	chr13:92051400-92052200	Bivalent Enhancer	Left Ventricle	heart
16	chr13:92051400-92052200	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr13:92051400-92052400	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr13:92051400-92053400	Active TSS	GM12878-XiMat	blood
19	chr13:92051600-92052200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
20	chr13:92051600-92052200	Bivalent Enhancer	Adipose Nuclei	Adipose
21	chr13:92051600-92052200	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr13:92051600-92052200	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr13:92051600-92052400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr13:92051600-92052400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr13:92051600-92053200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr13:92051800-92052200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr13:92051800-92052200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:92051800-92052200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr13:92051800-92052200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:92051800-92052200	Bivalent Enhancer	Psoas Muscle	Psoas
31	chr13:92051800-92052200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr13:92051800-92052400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr13:92051800-92052400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr13:92051800-92052400	Active TSS	Lung	lung
35	chr13:92052000-92052200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:92052000-92052200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
37	chr13:92052000-92052200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
38	chr13:92052000-92052200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr13:92052000-92052200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr13:92052000-92052200	Flanking Bivalent TSS/Enh	Liver	Liver
41	chr13:92052000-92052200	Bivalent/Poised TSS	Fetal Lung	lung
42	chr13:92052000-92052200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr13:92052000-92052200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr13:92052000-92052200	Flanking Bivalent TSS/Enh	Spleen	Spleen
45	chr13:92052000-92052400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
46	chr13:92052000-92052400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr13:92052000-92052400	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr13:92052000-92052400	Genic enhancers	Right Atrium	heart

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