Variant report

Variant	rs17132369
Chromosome Location	chr11:73519075-73519076
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1043234	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10501412	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10736793	1.00[CHD][hapmap];0.92[GIH][hapmap]
rs10898943	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10898947	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10898949	0.86[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235843	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs11235844	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11235851	0.92[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.82[TSI][hapmap]
rs11235864	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11235875	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235881	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235882	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11235885	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11235886	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235887	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11235888	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235898	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235905	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235907	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235908	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];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235910	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235913	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235914	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235915	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235920	0.90[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235922	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235925	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235927	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235931	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235933	1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235934	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235937	0.86[CHB][hapmap]
rs11235939	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235947	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12274970	0.81[GIH][hapmap]
rs12365044	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12365080	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12366033	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12420099	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12420751	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12421077	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12421900	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17132397	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17132403	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17132411	0.86[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1723840	0.84[ASN][1000 genomes]
rs1814547	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1830069	0.81[ASN][1000 genomes]
rs1869433	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2067912	0.84[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs2140892	0.96[CHD][hapmap];0.92[GIH][hapmap];0.81[ASN][1000 genomes]
rs3211165	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3741137	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3741147	0.87[TSI][hapmap]
rs3825003	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4537782	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4944028	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4944029	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4944032	1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4944033	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4944034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944856	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs4944862	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4944868	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944869	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55910552	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58862453	1.00[AMR][1000 genomes]
rs60020777	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60074535	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60239378	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60812833	0.82[ASN][1000 genomes]
rs6590	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs6592531	1.00[CHD][hapmap];0.92[GIH][hapmap]
rs66610247	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66626689	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67167213	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67259239	0.92[ASN][1000 genomes]
rs67488767	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68128239	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7105309	1.00[CHD][hapmap]
rs7115166	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7119528	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];0.97[ASN][1000 genomes]
rs72974866	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72976852	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72982926	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72982937	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72989228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939193	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7942963	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][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	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17132369	PAAF1	cis	lymphoblastoid	seeQTL
rs17132369	WDR71	cis	multi-tissue	Pritchard

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
4	chr11:73499800-73529400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:73500000-73520800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:73500000-73526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:73500200-73519200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:73500200-73526800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:73500200-73528200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
11	chr11:73500400-73537000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
14	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
15	chr11:73500600-73522000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:73500600-73528000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:73500600-73538800	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:73500600-73549200	Weak transcription	Osteobl	bone
19	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
20	chr11:73500800-73524200	Weak transcription	A549	lung
21	chr11:73500800-73558800	Weak transcription	NHEK	skin
22	chr11:73503600-73532400	Weak transcription	Stomach Mucosa	stomach
23	chr11:73503600-73541200	Weak transcription	GM12878-XiMat	blood
24	chr11:73507600-73522000	Weak transcription	HSMM	muscle
25	chr11:73507800-73521800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:73508200-73529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
28	chr11:73508800-73519400	Weak transcription	Thymus	Thymus
29	chr11:73508800-73522000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:73508800-73522200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:73508800-73533800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:73508800-73538200	Weak transcription	Placenta	Placenta
33	chr11:73508800-73538200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:73508800-73541400	Weak transcription	Esophagus	oesophagus
35	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
37	chr11:73508800-73575400	Weak transcription	Gastric	stomach
38	chr11:73509000-73519200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr11:73509000-73519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:73509000-73519400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:73509000-73521600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:73509000-73526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:73509000-73528400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:73509000-73529200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:73509000-73530800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:73509000-73536800	Weak transcription	Adipose Nuclei	Adipose
47	chr11:73509000-73539400	Weak transcription	Ovary	ovary
48	chr11:73509000-73549400	Weak transcription	Brain Substantia Nigra	brain
49	chr11:73509000-73549600	Weak transcription	Brain Angular Gyrus	brain
50	chr11:73509000-73553200	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links