Variant report

Variant	rs17726787
Chromosome Location	chr11:47529037-47529038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47495876..47498563-chr11:47527719..47530859,3	K562	blood:
2	chr11:47524421..47526189-chr11:47528668..47531487,2	K562	blood:
3	chr11:47527749..47529924-chr11:47868139..47869931,2	K562	blood:
4	chr11:47521843..47524187-chr11:47526565..47529247,2	MCF-7	breast:
5	chr11:47495876..47498563-chr11:47527719..47529777,2	K562	blood:

Variant related genes	Relation type
ENSG00000030066	Chromatin interaction
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11570058	0.91[CEU][hapmap]
rs11570067	0.91[CEU][hapmap]
rs12285933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3729989	0.91[CEU][hapmap]
rs45547231	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45603036	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45617144	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56007045	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57680742	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61895077	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61895081	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61895102	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61895104	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61895111	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895113	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897424	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61897426	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897429	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897430	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61897432	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897434	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7102372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7104800	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7108608	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7116534	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7930612	0.84[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9919527	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9919657	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17726787	PSMC3	cis	parietal	SCAN
rs17726787	PSMC3	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47508400-47530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
5	chr11:47510800-47529800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:47516800-47530200	Weak transcription	Colonic Mucosa	Colon
7	chr11:47519000-47529200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:47521600-47529800	Weak transcription	Gastric	stomach
9	chr11:47521600-47530200	Weak transcription	Right Ventricle	heart
10	chr11:47521600-47531000	Weak transcription	Lung	lung
11	chr11:47521600-47534000	Weak transcription	Aorta	Aorta
12	chr11:47521600-47534400	Weak transcription	HUVEC	blood vessel
13	chr11:47521800-47529200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:47521800-47531000	Weak transcription	Spleen	Spleen
15	chr11:47522800-47530400	Weak transcription	HepG2	liver
16	chr11:47522800-47536200	Weak transcription	Fetal Brain Female	brain
17	chr11:47523000-47530400	Weak transcription	Esophagus	oesophagus
18	chr11:47523000-47536600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:47523000-47545600	Weak transcription	Dnd41	blood
20	chr11:47523200-47530000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:47523200-47531000	Weak transcription	Right Atrium	heart
22	chr11:47523400-47529600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:47523400-47529800	Weak transcription	Fetal Thymus	thymus
24	chr11:47523400-47530400	Weak transcription	Pancreas	Pancrea
25	chr11:47524000-47529200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:47524800-47549600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:47526200-47529600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:47526200-47530400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:47526200-47530400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:47526200-47531000	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:47526400-47533400	Weak transcription	Fetal Stomach	stomach
32	chr11:47527000-47529200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:47527600-47529400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:47527600-47531600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:47527800-47530200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr11:47528000-47529200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:47528000-47529200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:47528000-47529800	Enhancers	Brain Hippocampus Middle	brain
39	chr11:47528000-47529800	Enhancers	Fetal Heart	heart
40	chr11:47528000-47530200	Enhancers	Brain Substantia Nigra	brain
41	chr11:47528000-47530200	Enhancers	NHLF	lung
42	chr11:47528000-47530800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:47528000-47530800	Genic enhancers	Hela-S3	cervix
44	chr11:47528000-47531200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr11:47528000-47531200	Enhancers	Colon Smooth Muscle	Colon
46	chr11:47528000-47531200	Enhancers	HSMMtube	muscle
47	chr11:47528000-47531400	Enhancers	Primary hematopoietic stem cells	blood
48	chr11:47528000-47531600	Enhancers	Adipose Nuclei	Adipose
49	chr11:47528000-47531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:47528000-47532000	Enhancers	HSMM	muscle

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