Variant report

Variant	rs11032013
Chromosome Location	chr11:32851189-32851190
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr11:32851081-32851308	GM12878	blood:	n/a	n/a
2	SMC3	chr11:32851051-32851383	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:32850696-32852143	GM19099	blood:	n/a	n/a
4	PAX5	chr11:32851107-32851341	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:32851062-32851653	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:32851060-32851753	ECC-1	luminal epithelium:	n/a	n/a
7	GTF2F1	chr11:32851000-32851266	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:32850987-32852288	NB4	blood:	n/a	n/a
9	TAF1	chr11:32851093-32851422	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr11:32850934-32851986	ECC-1	luminal epithelium:	n/a	chr11:32851205-32851212 chr11:32851440-32851447 chr11:32851688-32851698
11	POLR2A	chr11:32850937-32852271	MCF10A-Er-Src	breast:	n/a	n/a
12	MAX	chr11:32851082-32852341	MCF-7	breast:	n/a	n/a
13	CTCF	chr11:32851118-32851254	MCF-7	breast:	n/a	n/a
14	EBF1	chr11:32850751-32851437	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:32851067-32851516	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:32850869-32852047	GM12892	blood:	n/a	n/a
17	BRCA1	chr11:32850715-32851268	Hela-S3	cervix:	n/a	n/a
18	MAX	chr11:32851057-32852177	ECC-1	luminal epithelium:	n/a	n/a
19	ZNF143	chr11:32850949-32851404	GM12878	blood:	n/a	chr11:32851365-32851383
20	RAD21	chr11:32851149-32851240	H1-hESC	embryonic stem cell:	n/a	n/a
21	NR3C1	chr11:32851152-32851366	ECC-1	luminal epithelium:	n/a	n/a
22	ZNF143	chr11:32851143-32851331	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:32851094-32851358	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr11:32850788-32851520	Hela-S3	cervix:	n/a	n/a
25	ZEB1	chr11:32851051-32852294	HepG2	liver:	n/a	chr11:32851714-32851726 chr11:32851713-32851726
26	POLR2A	chr11:32850849-32852065	GM18505	blood:	n/a	n/a
27	POLR2A	chr11:32850985-32851936	MCF-7	breast:	n/a	n/a
28	MAZ	chr11:32851144-32852240	Hela-S3	cervix:	n/a	n/a
29	ELF1	chr11:32851045-32852022	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:32851096-32851571	A549	lung:	n/a	n/a
31	EP300	chr11:32850888-32852111	ECC-1	luminal epithelium:	n/a	chr11:32851416-32851432 chr11:32851879-32851895 chr11:32851415-32851431
32	POLR2A	chr11:32850979-32851983	HCT-116	colon:	n/a	n/a
33	RFX5	chr11:32850686-32851448	Hela-S3	cervix:	n/a	n/a
34	TCF7L2	chr11:32851097-32852567	Hela-S3	cervix:	n/a	n/a
35	TAF1	chr11:32851076-32851348	Hela-S3	cervix:	n/a	n/a
36	YY1	chr11:32851085-32851506	GM12892	blood:	n/a	chr11:32851274-32851283 chr11:32851302-32851313
37	CTCF	chr11:32851076-32851314	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:32850985-32852062	GM18526	blood:	n/a	n/a
39	YY1	chr11:32851151-32851714	ECC-1	luminal epithelium:	n/a	chr11:32851274-32851283 chr11:32851302-32851313
40	HA-E2F1	chr11:32851028-32852097	Hela-S3	cervix:	n/a	chr11:32851685-32851695 chr11:32851274-32851283 chr11:32851298-32851309
41	CTCF	chr11:32851080-32851230	AG09319	gingival:	n/a	n/a
42	SMARCC1	chr11:32850821-32852332	Hela-S3	cervix:	n/a	chr11:32851976-32851985
43	ARID3A	chr11:32850824-32851272	HepG2	liver:	n/a	n/a
44	PML	chr11:32850828-32851540	GM12878	blood:	n/a	n/a
45	TAF1	chr11:32850955-32851577	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:32850917-32851454	GM12891	blood:	n/a	n/a
47	HA-E2F1	chr11:32850870-32852302	MCF-7	breast:	n/a	chr11:32851685-32851695 chr11:32851274-32851283 chr11:32851298-32851309
48	FOXM1	chr11:32850757-32851307	GM12878	blood:	n/a	n/a
49	TBP	chr11:32851093-32851907	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr11:32851047-32852042	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:32851177-32851227	ECC-1	luminal epithelium:	n/a
2	chr11:32851177-32851227	HCM	heart:	n/a
3	chr11:32851177-32851227	HL-60	blood:	n/a
4	chr11:32851177-32851227	GM19239	blood:	n/a
5	chr11:32851177-32851227	CMK	blood:	n/a
6	chr11:32851177-32851227	SK-N-SH	brain:	n/a
7	chr11:32851177-32851227	A549	lung:	n/a
8	chr11:32851177-32851227	Hepatocyte	liver:	n/a
9	chr11:32851177-32851227	U87	brain:	n/a
10	chr11:32851177-32851227	H1-hESC	embryonic stem cell:	embryo
11	chr11:32851177-32851227	ovcar-3	ovarian:	n/a
12	chr11:32851177-32851227	AG04450	lung:	fetal
13	chr11:32851177-32851227	MCF10A-Er-Src	breast:	n/a
14	chr11:32851177-32851227	HNPCEpiC	eye:	n/a
15	chr11:32851177-32851227	GM12892	blood:	n/a
16	chr11:32851177-32851227	SK-N-MC	brain:	n/a
17	chr11:32851177-32851227	AG10803	skin:	n/a
18	chr11:32851177-32851227	HUVEC	blood vessel:	n/a
19	chr11:32851177-32851227	PrEC	prostate:	n/a
20	chr11:32851177-32851227	HIPEpiC	eye:	n/a
21	chr11:32851177-32851227	NHBE	bronchial:	n/a
22	chr11:32851177-32851227	BE2_C	brain:	n/a
23	chr11:32851177-32851227	NHDF-neo	bronchial:	n/a
24	chr11:32851177-32851227	NB4	blood:	n/a
25	chr11:32851177-32851227	HCPEpiC	choroid plexus:	n/a
26	chr11:32851177-32851227	HAEpiC	amniotic membrane:	n/a
27	chr11:32851177-32851227	AG09319	gingival:	n/a
28	chr11:32851177-32851227	SKMC	muscle:	n/a
29	chr11:32851177-32851227	HEEpiC	esophagus:	n/a
30	chr11:32851177-32851227	HCF	heart:	n/a
31	chr11:32851177-32851227	HEK293	kidney:	embryo
32	chr11:32851177-32851227	HRPEpiC	eye:	n/a
33	chr11:32851177-32851227	RPTEC	kidney:	n/a
34	chr11:32851177-32851227	GM12891	blood:	n/a
35	chr11:32851177-32851227	K562	blood:	n/a
36	chr11:32851177-32851227	NH-A	brain:	n/a
37	chr11:32851177-32851227	AG09309	skin:	n/a
38	chr11:32851177-32851227	LNCaP	prostate:	n/a
39	chr11:32851177-32851227	AG04449	skin:	fetal
40	chr11:32851177-32851227	MCF-7	breast:	n/a
41	chr11:32851177-32851227	Jurkat	blood:	n/a
42	chr11:32851177-32851227	HRCEpiC	kidney:	n/a
43	chr11:32851177-32851227	HCT-116	colon:	n/a
44	chr11:32851177-32851227	ProgFib	skin:	n/a
45	chr11:32851177-32851227	PANC-1	pancreas:	n/a
46	chr11:32851177-32851227	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:32851177-32851227	BJ	skin:	n/a
48	chr11:32851177-32851227	HRE	kidney:	n/a
49	chr11:32851177-32851227	Hela-S3	cervix:	n/a
50	chr11:32851177-32851227	AoSMC	blood vessel:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32851076..32851981-chr12:123011655..123012268,2	Hela-S3	cervix:
2	chr11:32850955..32851927-chr16:89752956..89753523,2	Hela-S3	cervix:
3	chr11:32849868..32852880-chr11:32911360..32916794,6	MCF-7	breast:
4	chr11:32850001..32854483-chr11:32912810..32915962,5	MCF-7	breast:
5	chr11:32850121..32852277-chr11:33088797..33091531,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRRG4	TF binding region
PRRG4	CpG island
ENSG00000185324	Chromatin interaction
ENSG00000260259	Chromatin interaction
ENSG00000060749	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000176148	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11031923	1.00[AMR][1000 genomes]
rs11031946	1.00[AMR][1000 genomes]
rs11031948	1.00[AMR][1000 genomes]
rs11031996	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11031997	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11031998	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032002	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032003	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11032012	1.00[AMR][1000 genomes]
rs11032014	1.00[AMR][1000 genomes]
rs11032016	1.00[AMR][1000 genomes]
rs11032018	1.00[AMR][1000 genomes]
rs11032020	1.00[AMR][1000 genomes]
rs11032027	1.00[AMR][1000 genomes]
rs11500263	1.00[AMR][1000 genomes]
rs11500265	1.00[AMR][1000 genomes]
rs12271181	1.00[AMR][1000 genomes]
rs12271387	1.00[AMR][1000 genomes]
rs12272530	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272806	1.00[AMR][1000 genomes]
rs12275668	1.00[AMR][1000 genomes]
rs12276083	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276553	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277487	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278625	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279736	1.00[AMR][1000 genomes]
rs12280927	1.00[AMR][1000 genomes]
rs12281351	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282737	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283079	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284266	1.00[AMR][1000 genomes]
rs12284643	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286034	1.00[AMR][1000 genomes]
rs12286067	1.00[AMR][1000 genomes]
rs12286919	1.00[AMR][1000 genomes]
rs12287838	1.00[AMR][1000 genomes]
rs12288379	1.00[AMR][1000 genomes]
rs12289390	1.00[AMR][1000 genomes]
rs12289661	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290105	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291223	1.00[AMR][1000 genomes]
rs12291922	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292567	1.00[AMR][1000 genomes]
rs12292854	1.00[AMR][1000 genomes]
rs12293418	1.00[AMR][1000 genomes]
rs13377413	1.00[AMR][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	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv897191	chr11:32805169-32903263	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv897192	chr11:32828760-32903263	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv897193	chr11:32838288-32903263	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv825818	chr11:32849904-32852165	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32850400-32851800	Active TSS	HMEC	breast
2	chr11:32850600-32851200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
3	chr11:32850600-32851200	Flanking Active TSS	Liver	Liver
4	chr11:32850600-32851600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:32850600-32852000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:32850600-32852000	Active TSS	NHEK	skin
7	chr11:32850600-32852200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:32850600-32852200	Active TSS	Hela-S3	cervix
9	chr11:32850600-32852400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:32850600-32852400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:32850600-32852400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr11:32850600-32852400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:32850600-32852400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr11:32850600-32852400	Active TSS	Rectal Smooth Muscle	rectum
15	chr11:32850600-32852800	Active TSS	Duodenum Mucosa	Duodenum
16	chr11:32850600-32853000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr11:32850800-32851200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:32850800-32851200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:32850800-32851200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
22	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr11:32850800-32851200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr11:32850800-32851200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
27	chr11:32850800-32851200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:32850800-32851200	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr11:32850800-32851200	Active TSS	Brain Hippocampus Middle	brain
30	chr11:32850800-32851200	Bivalent/Poised TSS	Fetal Brain Male	brain
31	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
32	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr11:32850800-32851200	Bivalent/Poised TSS	Psoas Muscle	Psoas
34	chr11:32850800-32851200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:32850800-32851200	Active TSS	Right Ventricle	heart
36	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
37	chr11:32850800-32851200	Active TSS	K562	blood
38	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	NH-A	brain
39	chr11:32850800-32851400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
40	chr11:32850800-32851400	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr11:32850800-32851400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:32850800-32851400	Active TSS	Aorta	Aorta
43	chr11:32850800-32851400	Active TSS	Right Atrium	heart
44	chr11:32850800-32851400	Bivalent/Poised TSS	HepG2	liver
45	chr11:32850800-32851600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:32850800-32851600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:32850800-32851600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:32850800-32851600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:32850800-32851600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr11:32850800-32851600	Active TSS	Placenta	Placenta

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