Variant report

Variant	rs11227332
Chromosome Location	chr11:65623739-65623740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65623326-65628516	K562	blood:	n/a	n/a
2	POLR2A	chr11:65617944-65626197	K562	blood:	n/a	n/a
3	HCFC1	chr11:65623229-65629451	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:65623637-65624005	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:65617092-65633870	K562	blood:	n/a	n/a
6	NFATC1	chr11:65623447-65625282	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:65622786-65624053	HepG2	liver:	n/a	n/a
8	REST	chr11:65623335-65623747	Hela-S3	cervix:	n/a	n/a
9	NFATC1	chr11:65623512-65624048	GM12878	blood:	n/a	n/a
10	ELK4	chr11:65623491-65625123	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:65616755-65639999	U87	brain:	n/a	n/a
12	USF1	chr11:65623290-65623759	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:65617198-65628973	PANC-1	pancreas:	n/a	n/a
14	ZBTB33	chr11:65623268-65623805	K562	blood:	n/a	n/a
15	MXI1	chr11:65623287-65629335	SK-N-SH	brain:	n/a	chr11:65626884-65626899 chr11:65624499-65624508
16	POLR2A	chr11:65623190-65629062	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr11:65623392-65626316	PFSK-1	brain:	n/a	n/a
18	STAT5A	chr11:65623693-65628911	GM12878	blood:	n/a	chr11:65625472-65625484 chr11:65627530-65627537 chr11:65624306-65624315 chr11:65624300-65624320 chr11:65628125-65628137 chr11:65624306-65624314 chr11:65625474-65625486 chr11:65624305-65624314 chr11:65627123-65627135 chr11:65625340-65625352
19	POLR2A	chr11:65616422-65629961	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr11:65623712-65625297	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:65623298-65623958	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:65617007-65628594	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:65622846-65623953	HL-60	blood:	n/a	n/a
24	POLR2A	chr11:65623414-65623900	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:65617073-65630131	GM12892	blood:	n/a	n/a
26	POLR2A	chr11:65623248-65626366	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:65616778-65626416	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:65616706-65640269	U87	brain:	n/a	n/a
29	POLR2A	chr11:65622550-65624159	H1-hESC	embryonic stem cell:	n/a	n/a
30	MXI1	chr11:65623008-65629086	IMR90	lung:	n/a	chr11:65626884-65626899 chr11:65624499-65624508
31	POLR2A	chr11:65622574-65623902	GM12878	blood:	n/a	n/a
32	SIX5	chr11:65623357-65623783	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP1	chr11:65623039-65623775	H1-hESC	embryonic stem cell:	n/a	chr11:65623301-65623310 chr11:65623299-65623311 chr11:65623299-65623311 chr11:65623300-65623314
34	POLR2A	chr11:65622986-65628609	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr11:65622999-65623742	T-47D	breast:	n/a	n/a
36	GATA3	chr11:65623290-65623748	T-47D	breast:	n/a	n/a
37	SREBP1	chr11:65623604-65628430	GM12878	blood:	n/a	chr11:65627898-65627909
38	POLR2A	chr11:65616458-65628745	GM12891	blood:	n/a	n/a
39	POLR2A	chr11:65622802-65628535	GM12892	blood:	n/a	n/a
40	POLR2A	chr11:65616541-65630139	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:65616547-65628578	GM12891	blood:	n/a	n/a
42	HEY1	chr11:65618698-65629274	K562	blood:	n/a	chr11:65625188-65625203 chr11:65625757-65625772 chr11:65624828-65624843 chr11:65626730-65626745 chr11:65620030-65620045 chr11:65620041-65620056
43	POLR2A	chr11:65622770-65623739	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:65616501-65633874	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:65623725-65625216	U87	brain:	n/a	n/a
46	POLR2A	chr11:65622604-65623934	GM12878	blood:	n/a	n/a
47	MTA3	chr11:65623105-65629373	GM12878	blood:	n/a	n/a
48	EP300	chr11:65623293-65623800	T-47D	breast:	n/a	n/a
49	POLR2A	chr11:65617525-65628914	GM12892	blood:	n/a	n/a
50	WRNIP1	chr11:65623458-65624760	GM12878	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
2	chr11:65623174..65623932-chr6:24775236..24776056,2	Hela-S3	cervix:
3	chr11:65461869..65464366-chr11:65623666..65626207,3	MCF-7	breast:
4	chr11:65562689..65564854-chr11:65621006..65623868,2	K562	blood:
5	chr11:65623212..65627104-chr11:65728021..65730947,7	MCF-7	breast:
6	chr11:65429132..65432605-chr11:65622916..65626202,6	MCF-7	breast:
7	chr11:502665..504183-chr11:65623020..65625621,2	K562	blood:
8	chr11:65545624..65552162-chr11:65622017..65629334,15	K562	blood:
9	chr11:65343451..65346634-chr11:65622563..65625144,3	K562	blood:
10	chr11:65401684..65404221-chr11:65623185..65625956,3	K562	blood:
11	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
12	chr11:65482499..65489390-chr11:65622947..65628870,15	MCF-7	breast:
13	chr11:65423887..65432217-chr11:65622069..65628988,12	K562	blood:
14	chr11:65485004..65489716-chr11:65621545..65626984,9	K562	blood:
15	chr11:65336222..65339291-chr11:65623626..65626992,4	K562	blood:
16	chr11:65623413..65628719-chr11:65768360..65773657,11	MCF-7	breast:
17	chr11:65377447..65384699-chr11:65622853..65629192,15	MCF-7	breast:
18	chr11:65485735..65490975-chr11:65621882..65626984,8	K562	blood:
19	chr11:65622512..65626950-chr11:65664131..65668520,8	MCF-7	breast:
20	chr11:65381645..65384488-chr11:65623214..65626222,3	K562	blood:
21	chr11:65623430..65625691-chr11:65837839..65839866,2	K562	blood:
22	chr11:65401684..65407000-chr11:65623220..65627704,6	K562	blood:
23	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
24	chr11:65391012..65395205-chr11:65623558..65626894,4	MCF-7	breast:
25	chr11:65552282..65556398-chr11:65623209..65626538,5	MCF-7	breast:
26	chr11:65553824..65556845-chr11:65623477..65626342,3	K562	blood:
27	chr11:65477884..65488010-chr11:65623516..65630419,28	MCF-7	breast:
28	chr11:65477240..65482056-chr11:65622069..65629377,17	MCF-7	breast:
29	chr11:65562689..65566411-chr11:65620359..65624603,6	K562	blood:
30	chr11:65476077..65482461-chr11:65623301..65629774,23	K562	blood:

No data

Variant related genes	Relation type
MUS81	TF binding region
ENSG00000175550	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000175592	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000239356	Chromatin interaction
ENSG00000266041	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000023191	Chromatin interaction
ENSG00000112312	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000255404	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11227333	0.82[ASN][1000 genomes]
rs17854357	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897763	chr11:65613348-65644027	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
10	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
11	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs11227332	SNX32	cis	Esophagus Mucosa	GTEx
rs11227332	SNX32	cis	parietal	SCAN
rs11227332	SNX32	cis	lung	GTEx
rs11227332	SNX32	cis	Stomach	GTEx
rs11227332	SNX32	cis	Artery Aorta	GTEx
rs11227332	SNX32	cis	Nerve Tibial	GTEx
rs11227332	SNX32	cis	Thyroid	GTEx
rs11227332	SNX32	cis	Esophagus Muscularis	GTEx
rs11227332	RBM14	cis	parietal	SCAN
rs11227332	SNX32	cis	Adipose Subcutaneous	GTEx
rs11227332	SNX32	cis	Skin Sun Exposed Lower leg	GTEx
rs11227332	SNX32	cis	Artery Tibial	GTEx
rs11227332	EFEMP2	cis	cerebellum	SCAN
rs11227332	SNX32	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65602200-65623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65616800-65625000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:65618000-65624000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:65618000-65624600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:65618200-65623800	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr11:65619000-65623800	Strong transcription	Aorta	Aorta
7	chr11:65619400-65623800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:65619800-65623800	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr11:65620200-65623800	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr11:65620400-65624000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
11	chr11:65620600-65624000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:65620600-65624000	Genic enhancers	Spleen	Spleen
13	chr11:65620800-65623800	Genic enhancers	Primary B cells from peripheral blood	blood
14	chr11:65620800-65623800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr11:65620800-65623800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:65620800-65623800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:65621000-65623800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr11:65621000-65623800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:65621000-65624000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:65621200-65623800	Strong transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:65621200-65623800	Genic enhancers	Fetal Thymus	thymus
22	chr11:65621400-65624000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:65621600-65623800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:65621600-65623800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:65621600-65623800	Genic enhancers	Gastric	stomach
26	chr11:65621800-65623800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr11:65621800-65623800	Genic enhancers	Liver	Liver
28	chr11:65622000-65624000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
29	chr11:65622000-65624200	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
30	chr11:65622000-65624400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
31	chr11:65622000-65624800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
32	chr11:65622200-65623800	Genic enhancers	Stomach Mucosa	stomach
33	chr11:65622400-65624600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:65622600-65623800	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:65622600-65624000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:65622600-65624000	Genic enhancers	Placenta	Placenta
37	chr11:65622600-65624000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:65622600-65624400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
39	chr11:65622800-65623800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:65622800-65623800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
41	chr11:65622800-65624200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
42	chr11:65622800-65624600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:65623000-65623800	Genic enhancers	Brain Anterior Caudate	brain
44	chr11:65623000-65623800	Genic enhancers	Brain Hippocampus Middle	brain
45	chr11:65623000-65623800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:65623000-65623800	Genic enhancers	Fetal Muscle Leg	muscle
47	chr11:65623000-65623800	Genic enhancers	Left Ventricle	heart
48	chr11:65623000-65623800	Genic enhancers	Lung	lung
49	chr11:65623000-65623800	Genic enhancers	Pancreas	Pancrea
50	chr11:65623000-65624000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain

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