Variant report

Variant	rs2231884
Chromosome Location	chr11:65656564-65656565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:297)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:65656420-65656570	HMEC	breast:	n/a	n/a
2	POLR2A	chr11:65655683-65657047	GM12892	blood:	n/a	n/a
3	CTCF	chr11:65654850-65657446	SK-N-SH	brain:	n/a	chr11:65656106-65656119
4	CTCF	chr11:65656487-65656583	MCF-7	breast:	n/a	n/a
5	RAD21	chr11:65655359-65656794	IMR90	lung:	n/a	chr11:65656248-65656260 chr11:65655946-65655960
6	STAT5A	chr11:65655419-65656763	GM12878	blood:	n/a	chr11:65655741-65655753 chr11:65656011-65656031 chr11:65656347-65656354
7	GABPA	chr11:65655429-65656679	A549	lung:	n/a	chr11:65655738-65655747 chr11:65656387-65656398
8	UBTF	chr11:65655764-65656679	K562	blood:	n/a	n/a
9	CTCF	chr11:65656490-65656601	Gliobla	brain:	n/a	n/a
10	KAP1	chr11:65655480-65656592	U2OS	brain:	n/a	n/a
11	CTCF	chr11:65656440-65656590	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr11:65656460-65656610	WERI-Rb-1	eye:	n/a	n/a
13	POLR2A	chr11:65655672-65656811	GM18951	blood:	n/a	n/a
14	MTA3	chr11:65655565-65657015	GM12878	blood:	n/a	n/a
15	MAX	chr11:65655268-65656890	A549	lung:	n/a	chr11:65655739-65655749
16	CTCF	chr11:65655656-65656658	H1-hESC	embryonic stem cell:	n/a	chr11:65656106-65656119
17	MYC	chr11:65655497-65656625	NB4	blood:	n/a	chr11:65655739-65655749
18	POLR2A	chr11:65654926-65656797	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr11:65654632-65669034	U87	brain:	n/a	n/a
20	ZKSCAN1	chr11:65655414-65656589	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr11:65656480-65656630	AG04449	skin:	n/a	n/a
22	POLR2A	chr11:65655284-65657061	ProgFib	skin:	n/a	n/a
23	CTCF	chr11:65656460-65656610	GM12878	blood:	n/a	n/a
24	CTCF	chr11:65656480-65656630	HRE	kidney:	n/a	n/a
25	CTCF	chr11:65656500-65656650	GM12864	blood:	n/a	n/a
26	CTCF	chr11:65656480-65656630	AG10803	skin:	n/a	n/a
27	ELF1	chr11:65655369-65656862	SK-N-SH	brain:	n/a	chr11:65655962-65655971 chr11:65656015-65656024 chr11:65655961-65655972 chr11:65656014-65656025 chr11:65655961-65655972
28	CTCF	chr11:65656480-65656630	HPF	lung:	n/a	n/a
29	CTCF	chr11:65656461-65656627	K562	blood:	n/a	n/a
30	CTCF	chr11:65656500-65656650	GM06990	blood:	n/a	n/a
31	POLR2A	chr11:65655696-65656970	GM19193	blood:	n/a	n/a
32	CTCF	chr11:65656420-65656570	GM12872	blood:	n/a	n/a
33	E2F6	chr11:65655295-65656586	A549	lung:	n/a	chr11:65656046-65656058 chr11:65655944-65655953 chr11:65655765-65655774 chr11:65655738-65655747 chr11:65656047-65656058 chr11:65656058-65656069
34	PML	chr11:65655434-65657029	GM12878	blood:	n/a	n/a
35	MAX	chr11:65655267-65656592	H1-hESC	embryonic stem cell:	n/a	chr11:65655739-65655749
36	CTCF	chr11:65656437-65656651	Spleen_OC	spleen:	n/a	n/a
37	RCOR1	chr11:65655430-65656911	K562	blood:	n/a	n/a
38	CTCF	chr11:65656460-65656610	MCF-7	breast:	n/a	n/a
39	RUNX3	chr11:65655262-65656894	GM12878	blood:	n/a	n/a
40	MYC	chr11:65656529-65656569	HepG2	liver:	n/a	n/a
41	CTCF	chr11:65656480-65656630	GM12874	blood:	n/a	n/a
42	MAX	chr11:65655189-65656699	K562	blood:	n/a	chr11:65655739-65655749
43	SP4	chr11:65655596-65656674	H1-hESC	embryonic stem cell:	n/a	chr11:65656045-65656056 chr11:65656034-65656045 chr11:65655736-65655752 chr11:65655734-65655750 chr11:65655625-65655641
44	SIN3A	chr11:65655370-65656766	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:65655144-65662194	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr11:65656500-65656650	AG04450	lung:	n/a	n/a
47	POLR2A	chr11:65655375-65656933	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr11:65655598-65657032	K562	blood:	n/a	n/a
49	CTCF	chr11:65656460-65656610	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr11:65656480-65656630	SAEC	small airway:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65336026..65338505-chr11:65655594..65658699,3	MCF-7	breast:
2	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
3	chr11:65652640..65657924-chr11:65769844..65772901,4	MCF-7	breast:
4	chr11:65428955..65432251-chr11:65654758..65658672,5	K562	blood:
5	chr11:65381281..65383865-chr11:65653428..65656647,3	MCF-7	breast:
6	chr11:65551697..65554555-chr11:65655334..65658299,2	K562	blood:
7	chr11:65654573..65660022-chr11:65726606..65732418,16	MCF-7	breast:
8	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
9	chr11:65478611..65480184-chr11:65654546..65656636,2	MCF-7	breast:
10	chr11:65656399..65658937-chr11:66080213..66082790,2	K562	blood:
11	chr11:65656381..65659645-chr11:65787840..65790125,3	K562	blood:
12	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
13	chr11:65478350..65482284-chr11:65653854..65660529,8	K562	blood:
14	chr11:65109448..65111191-chr11:65655775..65657630,2	K562	blood:
15	chr11:65428985..65431213-chr11:65655731..65657899,2	K562	blood:
16	chr11:65557488..65562536-chr11:65655379..65657877,5	K562	blood:
17	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
18	chr11:65655875..65658695-chr11:66035091..66037770,2	MCF-7	breast:
19	chr11:65381958..65383538-chr11:65656328..65658053,2	MCF-7	breast:
20	chr11:65656005..65658506-chr11:65823963..65825663,2	MCF-7	breast:
21	chr11:65485673..65489789-chr11:65654054..65658887,6	K562	blood:
22	chr11:65655400..65657605-chr11:65778805..65780715,2	MCF-7	breast:
23	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
24	chr11:65557488..65560218-chr11:65655379..65657652,3	K562	blood:
25	chr11:65656098..65656730-chr2:38977977..38978645,2	Hela-S3	cervix:
26	chr11:65478149..65481961-chr11:65654535..65657747,6	MCF-7	breast:
27	chr11:65655862..65656576-chr20:44440818..44441372,2	HCT-116	colon:
28	chr11:65656237..65656923-chr11:65699586..65700172,2	K562	blood:
29	chr11:65656060..65659299-chr11:65825283..65827500,3	K562	blood:
30	chr11:65547541..65549398-chr11:65656149..65657658,2	K562	blood:
31	chr11:65646632..65650808-chr11:65654844..65660529,6	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC85B	TF binding region
FIBP	TF binding region
ENSG00000175550	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000172543	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000175063	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000175467	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10791830	1.00[GIH][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10896050	0.81[CEU][hapmap]
rs11227333	0.85[EUR][1000 genomes]
rs1151519	0.85[EUR][1000 genomes]
rs1204650	0.85[EUR][1000 genomes]
rs12225345	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17854357	0.86[EUR][1000 genomes]
rs507062	0.83[EUR][1000 genomes]
rs568617	1.00[GIH][hapmap];0.81[JPT][hapmap];0.93[MEX][hapmap];0.85[EUR][1000 genomes]
rs583887	1.00[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap];0.84[EUR][1000 genomes]
rs585557	0.80[EUR][1000 genomes]
rs58568715	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs588114	0.83[EUR][1000 genomes]
rs596002	0.83[EUR][1000 genomes]
rs601863	1.00[GIH][hapmap];0.81[JPT][hapmap];0.93[MEX][hapmap];0.85[EUR][1000 genomes]
rs608616	0.81[EUR][1000 genomes]
rs622614	1.00[GIH][hapmap];0.93[MEX][hapmap];0.80[EUR][1000 genomes]
rs641018	0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs645900	1.00[GIH][hapmap];0.81[JPT][hapmap];0.93[MEX][hapmap];0.85[EUR][1000 genomes]
rs656980	1.00[GIH][hapmap];0.81[JPT][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap];0.86[EUR][1000 genomes]
rs658524	1.00[GIH][hapmap];0.81[JPT][hapmap];0.93[MEX][hapmap];0.85[EUR][1000 genomes]
rs658938	1.00[GIH][hapmap];0.81[JPT][hapmap];0.93[MEX][hapmap];0.85[EUR][1000 genomes]
rs677931	0.85[EUR][1000 genomes]
rs687672	1.00[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.85[EUR][1000 genomes]
rs693824	0.85[EUR][1000 genomes]
rs694994	1.00[GIH][hapmap];0.81[JPT][hapmap];0.93[MEX][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
10	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
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
12	nsv530622	chr11:65649068-65661361	Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	65 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Inflammatory bowel disease	23128233	GWAS catalog

mRNA abundance (count:21)

SNP	Gene	Cis/trans	Tissue	Source
rs2231884	SNX32	cis	Nerve Tibial	GTEx
rs2231884	SNX32	cis	Thyroid	GTEx
rs2231884	SNX32	cis	Stomach	GTEx
rs2231884	CTSW	cis	inferior olivary nucleus	BrainEAC
rs2231884	SNX32	cis	cerebellum	SCAN
rs2231884	SNX32	cis	Skin Sun Exposed Lower leg	GTEx
rs2231884	SNX32	cis	Adipose Subcutaneous	GTEx
rs2231884	RBM14	cis	parietal	SCAN
rs2231884	SNX32	cis	Artery Aorta	GTEx
rs2231884	RBM4	cis	cerebellum	SCAN
rs2231884	SNX32	cis	Artery Tibial	GTEx
rs2231884	SNX32	cis	Esophagus Muscularis	GTEx
rs2231884	FIBP	Cis_1M	lymphoblastoid	RTeQTL
rs2231884	FIBP	cis	parietal	SCAN
rs2231884	CTSW	Cis_1M	lymphoblastoid	RTeQTL
rs2231884	SNX32	cis	lung	GTEx
rs2231884	FIBP	cis	lymphoblastoid	seeQTL
rs2231884	SNX32	cis	parietal	SCAN
rs2231884	CTSW	cis	Esophagus Mucosa	GTEx
rs2231884	SNX32	cis	Esophagus Mucosa	GTEx
rs2231884	RELA	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65654600-65657200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:65654800-65656600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:65655000-65656600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr11:65655000-65656800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:65655000-65657000	Flanking Active TSS	Liver	Liver
6	chr11:65655000-65657200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:65655000-65660200	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr11:65655000-65662200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:65655200-65656600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:65655200-65656600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:65655200-65656600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr11:65655200-65656600	Active TSS	HSMM	muscle
13	chr11:65655200-65656800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:65655200-65657000	Active TSS	Right Atrium	heart
15	chr11:65655200-65657200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:65655200-65657200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:65655200-65657200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:65655200-65657400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:65655200-65658200	Active TSS	Aorta	Aorta
20	chr11:65655400-65656600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:65655400-65656600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:65655400-65656600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:65655400-65656600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:65655400-65656600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:65655400-65656600	Active TSS	Brain Anterior Caudate	brain
26	chr11:65655400-65656600	Active TSS	Fetal Heart	heart
27	chr11:65655400-65656600	Active TSS	Fetal Kidney	kidney
28	chr11:65655400-65656600	Active TSS	Left Ventricle	heart
29	chr11:65655400-65656600	Active TSS	Ovary	ovary
30	chr11:65655400-65656800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:65655400-65657000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:65655400-65657000	Active TSS	Psoas Muscle	Psoas
33	chr11:65655400-65657000	Active TSS	K562	blood
34	chr11:65655400-65657200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:65655400-65657200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:65655400-65657400	Active TSS	Fetal Brain Female	brain
37	chr11:65655600-65656600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:65655600-65656600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:65655600-65656600	Active TSS	Fetal Lung	lung
40	chr11:65655600-65656600	Active TSS	Right Ventricle	heart
41	chr11:65655600-65656600	Active TSS	Thymus	Thymus
42	chr11:65655600-65656800	Active TSS	Colon Smooth Muscle	Colon
43	chr11:65655600-65656800	Active TSS	Esophagus	oesophagus
44	chr11:65655600-65657000	Active TSS	Brain Angular Gyrus	brain
45	chr11:65655600-65657000	Active TSS	Brain Substantia Nigra	brain
46	chr11:65655600-65657000	Bivalent/Poised TSS	HepG2	liver
47	chr11:65655600-65657200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr11:65655800-65657200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:65656000-65657600	Active TSS	Colonic Mucosa	Colon
50	chr11:65656200-65656600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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