Variant report

Variant	rs17132411
Chromosome Location	chr11:73575320-73575321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73559337..73560863-chr11:73574694..73577336,2	K562	blood:
2	chr11:73573157..73576108-chr11:73585479..73588302,2	MCF-7	breast:
3	chr11:73574387..73575953-chr11:73575970..73577570,2	MCF-7	breast:
4	chr11:73568596..73571925-chr11:73573759..73576003,3	K562	blood:

Variant related genes	Relation type
ENSG00000175575	Chromatin interaction
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1043234	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10501412	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10736793	0.84[CHD][hapmap]
rs10898943	0.87[AMR][1000 genomes]
rs10898947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898949	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235844	0.87[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs11235851	0.92[CHB][hapmap]
rs11235864	0.84[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs11235882	0.87[AMR][1000 genomes]
rs11235885	0.84[AMR][1000 genomes]
rs11235886	0.87[AMR][1000 genomes]
rs11235888	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11235898	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235905	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235907	0.86[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235908	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235910	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235913	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235914	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235915	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235920	1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11235922	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235925	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235927	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235931	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];1.00[ASN][1000 genomes]
rs11235933	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235937	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[ASN][1000 genomes]
rs11235939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235947	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12365044	0.87[AMR][1000 genomes]
rs12365080	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12366033	0.84[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs12420099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12421900	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17132369	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]
rs17132397	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];0.98[ASN][1000 genomes]
rs17132403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814547	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1869433	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067912	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3211165	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3741137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825003	0.84[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs4537782	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944028	1.00[YRI][hapmap]
rs4944032	0.84[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs4944033	0.87[AMR][1000 genomes]
rs4944034	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944856	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs4944862	0.87[AMR][1000 genomes]
rs4944868	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55910552	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58862453	0.87[AMR][1000 genomes]
rs60020777	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60074535	0.87[AMR][1000 genomes]
rs60239378	0.87[AMR][1000 genomes]
rs60812833	0.86[ASN][1000 genomes]
rs6592531	0.84[CHD][hapmap]
rs66610247	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs66626689	0.87[AMR][1000 genomes]
rs7105309	0.83[CHD][hapmap]
rs7119528	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs71464090	0.85[ASN][1000 genomes]
rs72982926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989228	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7929705	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7939193	0.87[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes]
rs7942963	1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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	19 gene(s)	inside rSNPs	diseases
6	nsv983206	chr11:73565238-73580462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17132411	WDR71	cis	multi-tissue	Pritchard
rs17132411	PAAF1	cis	lymphoblastoid	seeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
2	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
3	chr11:73508800-73575400	Weak transcription	Gastric	stomach
4	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
5	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
6	chr11:73537400-73582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:73539000-73577200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:73539200-73583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:73540800-73577400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:73541800-73583600	Weak transcription	Esophagus	oesophagus
11	chr11:73542400-73577400	Weak transcription	HUVEC	blood vessel
12	chr11:73542600-73577200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:73548800-73582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:73549800-73583600	Weak transcription	GM12878-XiMat	blood
15	chr11:73550000-73577200	Weak transcription	HSMMtube	muscle
16	chr11:73550400-73577200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:73550400-73577200	Weak transcription	NH-A	brain
18	chr11:73550400-73582400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:73555000-73577200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:73556200-73580400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:73556800-73575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:73557000-73577200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:73561200-73579800	Weak transcription	Fetal Lung	lung
24	chr11:73564400-73586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:73566000-73577600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:73566400-73577200	Weak transcription	HMEC	breast
27	chr11:73567600-73577600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:73567600-73582200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:73567800-73575400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:73567800-73577200	Weak transcription	Fetal Heart	heart
31	chr11:73567800-73580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:73568400-73575400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:73569800-73576400	Strong transcription	Dnd41	blood
34	chr11:73569800-73577800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:73570000-73575800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr11:73570400-73576400	Strong transcription	Fetal Stomach	stomach
37	chr11:73570600-73578200	Strong transcription	Primary T cells from cord blood	blood
38	chr11:73570800-73575600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr11:73570800-73576000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:73570800-73576600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:73570800-73576600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:73570800-73576600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr11:73570800-73577000	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:73570800-73577800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:73570800-73578000	Strong transcription	Fetal Thymus	thymus
46	chr11:73570800-73578200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:73570800-73578400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:73571000-73576400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:73571000-73576600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:73571000-73576600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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