Variant report

Variant	rs11032014
Chromosome Location	chr11:32851448-32851449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:32850696-32852143	GM19099	blood:	n/a	n/a
2	POLR2A	chr11:32851062-32851653	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:32851060-32851753	ECC-1	luminal epithelium:	n/a	n/a
4	YY1	chr11:32851246-32851645	HepG2	liver:	n/a	chr11:32851274-32851283 chr11:32851302-32851313
5	POLR2A	chr11:32850987-32852288	NB4	blood:	n/a	n/a
6	TCF12	chr11:32850934-32851986	ECC-1	luminal epithelium:	n/a	chr11:32851205-32851212 chr11:32851440-32851447 chr11:32851688-32851698
7	POLR2A	chr11:32850937-32852271	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr11:32851082-32852341	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:32851067-32851516	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:32850869-32852047	GM12892	blood:	n/a	n/a
11	MAX	chr11:32851057-32852177	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr11:32850788-32851520	Hela-S3	cervix:	n/a	n/a
13	ZEB1	chr11:32851051-32852294	HepG2	liver:	n/a	chr11:32851714-32851726 chr11:32851713-32851726
14	POLR2A	chr11:32850849-32852065	GM18505	blood:	n/a	n/a
15	POLR2A	chr11:32850985-32851936	MCF-7	breast:	n/a	n/a
16	MAZ	chr11:32851144-32852240	Hela-S3	cervix:	n/a	n/a
17	ELF1	chr11:32851045-32852022	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:32851096-32851571	A549	lung:	n/a	n/a
19	EP300	chr11:32850888-32852111	ECC-1	luminal epithelium:	n/a	chr11:32851416-32851432 chr11:32851879-32851895 chr11:32851415-32851431
20	POLR2A	chr11:32850979-32851983	HCT-116	colon:	n/a	n/a
21	RFX5	chr11:32850686-32851448	Hela-S3	cervix:	n/a	n/a
22	TCF7L2	chr11:32851097-32852567	Hela-S3	cervix:	n/a	n/a
23	YY1	chr11:32851085-32851506	GM12892	blood:	n/a	chr11:32851274-32851283 chr11:32851302-32851313
24	POLR2A	chr11:32850985-32852062	GM18526	blood:	n/a	n/a
25	YY1	chr11:32851151-32851714	ECC-1	luminal epithelium:	n/a	chr11:32851274-32851283 chr11:32851302-32851313
26	HA-E2F1	chr11:32851028-32852097	Hela-S3	cervix:	n/a	chr11:32851685-32851695 chr11:32851274-32851283 chr11:32851298-32851309
27	SMARCC1	chr11:32850821-32852332	Hela-S3	cervix:	n/a	chr11:32851976-32851985
28	PML	chr11:32850828-32851540	GM12878	blood:	n/a	n/a
29	TAF1	chr11:32850955-32851577	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:32850917-32851454	GM12891	blood:	n/a	n/a
31	HA-E2F1	chr11:32850870-32852302	MCF-7	breast:	n/a	chr11:32851685-32851695 chr11:32851274-32851283 chr11:32851298-32851309
32	TBP	chr11:32851093-32851907	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr11:32851047-32852042	A549	lung:	n/a	n/a
34	TAF1	chr11:32851003-32851452	GM12878	blood:	n/a	n/a
35	TCF3	chr11:32851200-32851626	GM12878	blood:	n/a	n/a
36	MAX	chr11:32850932-32852320	NB4	blood:	n/a	n/a
37	MYC	chr11:32850866-32852318	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:32850838-32851998	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZEB1	chr11:32851041-32851980	GM12878	blood:	n/a	chr11:32851714-32851726 chr11:32851713-32851726
40	TAF1	chr11:32850971-32851940	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr11:32850709-32852881	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr11:32850840-32851472	MCF10A-Er-Src	breast:	n/a	chr11:32851274-32851283
43	POLR2A	chr11:32850939-32851479	GM12892	blood:	n/a	n/a
44	ZBTB7A	chr11:32850787-32851975	ECC-1	luminal epithelium:	n/a	n/a
45	MXI1	chr11:32850919-32852222	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:32850960-32851498	U87	brain:	n/a	n/a
47	SIN3A	chr11:32850930-32851755	GM12878	blood:	n/a	chr11:32851345-32851356
48	E2F1	chr11:32851021-32852112	Hela-S3	cervix:	n/a	chr11:32851685-32851695 chr11:32851274-32851283 chr11:32851298-32851309
49	MAX	chr11:32851036-32852428	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:32850880-32851689	GM12892	blood:	n/a	n/a

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	chr11:32851440..32852221-chr2:173420119..173420696,2	Hela-S3	cervix:
5	chr11:32850001..32854483-chr11:32912810..32915962,5	MCF-7	breast:
6	chr11:32850121..32852277-chr11:33088797..33091531,2	MCF-7	breast:
7	chr11:32851420..32852136-chr5:36606640..36607218,2	Hela-S3	cervix:

Variant related genes	Relation type
PRRG4	TF binding region
ENSG00000176148	Chromatin interaction
ENSG00000185324	Chromatin interaction
ENSG00000079215	Chromatin interaction
ENSG00000260259	Chromatin interaction
ENSG00000060749	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000152256	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	1.00[AMR][1000 genomes]
rs11031997	1.00[AMR][1000 genomes]
rs11031998	1.00[AMR][1000 genomes]
rs11032002	1.00[AMR][1000 genomes]
rs11032003	1.00[AMR][1000 genomes]
rs11032012	1.00[AMR][1000 genomes]
rs11032013	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	1.00[AMR][1000 genomes]
rs12272806	1.00[AMR][1000 genomes]
rs12275668	1.00[AMR][1000 genomes]
rs12276083	1.00[AMR][1000 genomes]
rs12276553	1.00[AMR][1000 genomes]
rs12277487	1.00[AMR][1000 genomes]
rs12278625	1.00[AMR][1000 genomes]
rs12279736	1.00[AMR][1000 genomes]
rs12280927	1.00[AMR][1000 genomes]
rs12281351	1.00[AMR][1000 genomes]
rs12282737	1.00[AMR][1000 genomes]
rs12283079	1.00[AMR][1000 genomes]
rs12284266	1.00[AMR][1000 genomes]
rs12284643	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	1.00[AMR][1000 genomes]
rs12290105	1.00[AMR][1000 genomes]
rs12291223	1.00[AMR][1000 genomes]
rs12291922	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32850400-32851800	Active TSS	HMEC	breast
2	chr11:32850600-32851600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:32850600-32852000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:32850600-32852000	Active TSS	NHEK	skin
5	chr11:32850600-32852200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:32850600-32852200	Active TSS	Hela-S3	cervix
7	chr11:32850600-32852400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:32850600-32852400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:32850600-32852400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr11:32850600-32852400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:32850600-32852400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:32850600-32852400	Active TSS	Rectal Smooth Muscle	rectum
13	chr11:32850600-32852800	Active TSS	Duodenum Mucosa	Duodenum
14	chr11:32850600-32853000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr11:32850800-32851600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:32850800-32851600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:32850800-32851600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:32850800-32851600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:32850800-32851600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr11:32850800-32851600	Active TSS	Placenta	Placenta
21	chr11:32850800-32851600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
22	chr11:32850800-32851600	Active TSS	Stomach Smooth Muscle	stomach
23	chr11:32850800-32851600	Active TSS	NHLF	lung
24	chr11:32850800-32851800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:32850800-32851800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
26	chr11:32850800-32851800	Active TSS	Brain Cingulate Gyrus	brain
27	chr11:32850800-32851800	Bivalent/Poised TSS	Fetal Lung	lung
28	chr11:32850800-32851800	Active TSS	Ovary	ovary
29	chr11:32850800-32851800	Active TSS	Placenta Amnion	Placenta Amnion
30	chr11:32850800-32851800	Flanking Bivalent TSS/Enh	Dnd41	blood
31	chr11:32850800-32851800	Bivalent/Poised TSS	HSMMtube	muscle
32	chr11:32850800-32851800	Bivalent/Poised TSS	Osteobl	bone
33	chr11:32850800-32852000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr11:32850800-32852000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:32850800-32852000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:32850800-32852000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
37	chr11:32850800-32852000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:32850800-32852000	Active TSS	Brain Substantia Nigra	brain
39	chr11:32850800-32852000	Active TSS	A549	lung
40	chr11:32850800-32852000	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr11:32850800-32852200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:32850800-32852200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:32850800-32852200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr11:32850800-32852200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
45	chr11:32850800-32852200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:32850800-32852200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr11:32850800-32852200	Active TSS	Colonic Mucosa	Colon
48	chr11:32850800-32852200	Active TSS	Lung	lung
49	chr11:32850800-32852200	Active TSS	Stomach Mucosa	stomach
50	chr11:32850800-32852200	Bivalent/Poised TSS	NHDF-Ad	bronchial

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