Variant report

Variant	rs11742326
Chromosome Location	chr5:52098852-52098853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52094843..52098198-chr5:52098254..52104420,8	MCF-7	breast:
2	chr5:52094488..52099149-chr5:52099370..52102274,8	MCF-7	breast:
3	chr5:52095351..52098941-chr5:52102830..52105160,3	MCF-7	breast:
4	chr5:52097069..52099720-chr5:52163479..52166122,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10940270	0.85[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12652120	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13158244	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13162617	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13182946	0.80[CEU][hapmap]
rs2454581	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2454582	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2548495	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2648728	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2938796	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6879140	0.99[ASN][1000 genomes]
rs6883810	0.82[CEU][hapmap]
rs6889045	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[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	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1027410	chr5:52022713-52103360	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1020640	chr5:52058830-52120858	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
7	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11742326	PELO	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52094600-52099000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:52094600-52099000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr5:52095400-52099600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr5:52096200-52099000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr5:52096600-52099400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:52096800-52099400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:52096800-52101000	Active TSS	Aorta	Aorta
8	chr5:52097000-52099000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr5:52097000-52099600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:52097000-52099600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:52097200-52099000	Transcr. at gene 5' and 3'	Hela-S3	cervix
12	chr5:52097200-52099000	Flanking Active TSS	HUVEC	blood vessel
13	chr5:52097200-52099200	Transcr. at gene 5' and 3'	HMEC	breast
14	chr5:52097200-52099800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:52097200-52099800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:52097200-52099800	Transcr. at gene 5' and 3'	Osteobl	bone
17	chr5:52097400-52099000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
18	chr5:52097400-52099200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
19	chr5:52097400-52099600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr5:52097400-52099800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
21	chr5:52097400-52099800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
22	chr5:52097400-52100200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:52097400-52100400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:52097600-52099000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:52097600-52099000	Active TSS	Right Ventricle	heart
26	chr5:52097600-52099400	Active TSS	Right Atrium	heart
27	chr5:52097600-52099600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
28	chr5:52097600-52100200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr5:52097600-52101800	Weak transcription	Gastric	stomach
30	chr5:52097600-52102800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:52097600-52105000	Weak transcription	Pancreas	Pancrea
32	chr5:52097600-52105200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:52097600-52105200	Weak transcription	Esophagus	oesophagus
34	chr5:52097600-52105400	Weak transcription	Spleen	Spleen
35	chr5:52097800-52099000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:52097800-52099000	Active TSS	Fetal Stomach	stomach
37	chr5:52097800-52099000	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr5:52097800-52099200	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr5:52097800-52099200	Active TSS	HSMMtube	muscle
40	chr5:52097800-52099400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:52097800-52099400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr5:52097800-52099600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr5:52097800-52099600	Enhancers	Brain Hippocampus Middle	brain
44	chr5:52097800-52099600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr5:52097800-52100200	Enhancers	Brain Substantia Nigra	brain
46	chr5:52097800-52100400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:52097800-52100600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr5:52097800-52100800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:52097800-52101400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:52097800-52102600	Weak transcription	Primary T cells fromperipheralblood	blood

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