Variant report

Variant	rs539028824
Chromosome Location	chr11:32850997-32850998
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	chr11:32850987-32852288	NB4	blood:	n/a	n/a
3	TCF12	chr11:32850934-32851986	ECC-1	luminal epithelium:	n/a	chr11:32851205-32851212 chr11:32851440-32851447 chr11:32851688-32851698
4	POLR2A	chr11:32850937-32852271	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr11:32850678-32851001	HepG2	liver:	n/a	n/a
6	EBF1	chr11:32850751-32851437	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:32850869-32852047	GM12892	blood:	n/a	n/a
8	BRCA1	chr11:32850715-32851268	Hela-S3	cervix:	n/a	n/a
9	EP300	chr11:32850657-32851043	HepG2	liver:	n/a	n/a
10	ZNF143	chr11:32850949-32851404	GM12878	blood:	n/a	chr11:32851365-32851383
11	CEBPB	chr11:32850788-32851520	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:32850849-32852065	GM18505	blood:	n/a	n/a
13	POLR2A	chr11:32850985-32851936	MCF-7	breast:	n/a	n/a
14	FOXA1	chr11:32850683-32851002	T-47D	breast:	n/a	n/a
15	EP300	chr11:32850888-32852111	ECC-1	luminal epithelium:	n/a	chr11:32851416-32851432 chr11:32851879-32851895 chr11:32851415-32851431
16	POLR2A	chr11:32850979-32851983	HCT-116	colon:	n/a	n/a
17	RFX5	chr11:32850686-32851448	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:32850985-32852062	GM18526	blood:	n/a	n/a
19	SMARCC1	chr11:32850821-32852332	Hela-S3	cervix:	n/a	chr11:32851976-32851985
20	ARID3A	chr11:32850824-32851272	HepG2	liver:	n/a	n/a
21	PML	chr11:32850828-32851540	GM12878	blood:	n/a	n/a
22	TAF1	chr11:32850955-32851577	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:32850917-32851454	GM12891	blood:	n/a	n/a
24	HA-E2F1	chr11:32850870-32852302	MCF-7	breast:	n/a	chr11:32851685-32851695 chr11:32851274-32851283 chr11:32851298-32851309
25	FOXM1	chr11:32850757-32851307	GM12878	blood:	n/a	n/a
26	TBP	chr11:32850731-32851408	GM12878	blood:	n/a	n/a
27	MAX	chr11:32850932-32852320	NB4	blood:	n/a	n/a
28	MYC	chr11:32850866-32852318	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:32850838-32851998	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr11:32850971-32851940	ECC-1	luminal epithelium:	n/a	n/a
31	MYC	chr11:32850706-32851015	MCF10A-Er-Src	breast:	n/a	n/a
32	RUNX3	chr11:32850894-32851318	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:32850709-32852881	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr11:32850840-32851472	MCF10A-Er-Src	breast:	n/a	chr11:32851274-32851283
35	SP1	chr11:32850735-32850998	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:32850939-32851479	GM12892	blood:	n/a	n/a
37	ZBTB7A	chr11:32850787-32851975	ECC-1	luminal epithelium:	n/a	n/a
38	MXI1	chr11:32850919-32852222	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:32850960-32851498	U87	brain:	n/a	n/a
40	KAP1	chr11:32850952-32851383	HEK293	kidney:	n/a	n/a
41	SIN3A	chr11:32850930-32851755	GM12878	blood:	n/a	chr11:32851345-32851356
42	WRNIP1	chr11:32850916-32851291	GM12878	blood:	n/a	n/a
43	MAFK	chr11:32850820-32851332	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr11:32850880-32851689	GM12892	blood:	n/a	n/a
45	POLR2A	chr11:32850996-32851442	GM12891	blood:	n/a	n/a
46	GATA1	chr11:32850433-32851666	PBDE	blood:	n/a	chr11:32851034-32851055 chr11:32851037-32851053
47	POLR2A	chr11:32850963-32851898	HCT-116	colon:	n/a	n/a
48	SIN3AK20	chr11:32850897-32852448	MCF-7	breast:	n/a	n/a
49	MAX	chr11:32850873-32852317	A549	lung:	n/a	n/a
50	TAF1	chr11:32850958-32851493	Hela-S3	cervix:	n/a	n/a

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

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32850400-32851000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:32850400-32851800	Active TSS	HMEC	breast
3	chr11:32850600-32851000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
4	chr11:32850600-32851000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr11:32850600-32851200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr11:32850600-32851200	Flanking Active TSS	Liver	Liver
7	chr11:32850600-32851600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:32850600-32852000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:32850600-32852000	Active TSS	NHEK	skin
10	chr11:32850600-32852200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:32850600-32852200	Active TSS	Hela-S3	cervix
12	chr11:32850600-32852400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:32850600-32852400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:32850600-32852400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:32850600-32852400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:32850600-32852400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr11:32850600-32852400	Active TSS	Rectal Smooth Muscle	rectum
18	chr11:32850600-32852800	Active TSS	Duodenum Mucosa	Duodenum
19	chr11:32850600-32853000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:32850800-32851000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:32850800-32851000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:32850800-32851000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:32850800-32851000	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr11:32850800-32851000	Enhancers	Primary T cells from cord blood	blood
25	chr11:32850800-32851000	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:32850800-32851000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:32850800-32851000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:32850800-32851000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:32850800-32851000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
30	chr11:32850800-32851000	Bivalent Enhancer	Brain Germinal Matrix	brain
31	chr11:32850800-32851000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr11:32850800-32851000	Bivalent/Poised TSS	Fetal Heart	heart
33	chr11:32850800-32851000	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr11:32850800-32851000	Active TSS	Fetal Intestine Small	intestine
35	chr11:32850800-32851000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr11:32850800-32851000	Active TSS	GM12878-XiMat	blood
37	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr11:32850800-32851200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr11:32850800-32851200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:32850800-32851200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
42	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr11:32850800-32851200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr11:32850800-32851200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:32850800-32851200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
47	chr11:32850800-32851200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:32850800-32851200	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr11:32850800-32851200	Active TSS	Brain Hippocampus Middle	brain
50	chr11:32850800-32851200	Bivalent/Poised TSS	Fetal Brain Male	brain

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