Variant report

Variant	rs549195591
Chromosome Location	chr11:32850796-32850797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr11:32850724-32850991	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:32850696-32852143	GM19099	blood:	n/a	n/a
3	JUND	chr11:32850678-32851001	HepG2	liver:	n/a	n/a
4	EBF1	chr11:32850751-32851437	GM12878	blood:	n/a	n/a
5	BRCA1	chr11:32850715-32851268	Hela-S3	cervix:	n/a	n/a
6	EP300	chr11:32850657-32851043	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:32850788-32851520	Hela-S3	cervix:	n/a	n/a
8	FOXA1	chr11:32850683-32851002	T-47D	breast:	n/a	n/a
9	RFX5	chr11:32850686-32851448	Hela-S3	cervix:	n/a	n/a
10	FOXM1	chr11:32850757-32851307	GM12878	blood:	n/a	n/a
11	TBP	chr11:32850731-32851408	GM12878	blood:	n/a	n/a
12	MYC	chr11:32850706-32851015	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:32850709-32852881	MCF10A-Er-Src	breast:	n/a	n/a
14	SP1	chr11:32850735-32850998	GM12878	blood:	n/a	n/a
15	ZBTB7A	chr11:32850787-32851975	ECC-1	luminal epithelium:	n/a	n/a
16	GATA1	chr11:32850433-32851666	PBDE	blood:	n/a	chr11:32851034-32851055 chr11:32851037-32851053
17	MAZ	chr11:32850698-32850898	HepG2	liver:	n/a	n/a
18	ATF2	chr11:32850720-32851321	GM12878	blood:	n/a	n/a
19	FOS	chr11:32850711-32851015	MCF10A-Er-Src	breast:	n/a	n/a
20	RUNX3	chr11:32850724-32851464	GM12878	blood:	n/a	n/a
21	NFIC	chr11:32850572-32851394	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:32850775-32851577	Hela-S3	cervix:	n/a	n/a
23	MAX	chr11:32850704-32852051	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr11:32850784-32852304	Hela-S3	cervix:	n/a	n/a
25	PRDM1	chr11:32850796-32851231	Hela-S3	cervix:	n/a	chr11:32851030-32851043
26	POLR2A	chr11:32850746-32852306	Hela-S3	cervix:	n/a	n/a
27	FOS	chr11:32850770-32850970	MCF10A-Er-Src	breast:	n/a	n/a
28	ATF2	chr11:32850594-32851339	GM12878	blood:	n/a	n/a
29	STAT3	chr11:32850724-32850944	MCF10A-Er-Src	breast:	n/a	n/a
30	MTA3	chr11:32850791-32851390	GM12878	blood:	n/a	n/a
31	MTA3	chr11:32850740-32851392	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:32850780-32852026	Hela-S3	cervix:	n/a	n/a
33	TBP	chr11:32850717-32851362	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr11:32850670-32852282	PBDE	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32849868..32852880-chr11:32911360..32916794,6	MCF-7	breast:
2	chr11:32850001..32854483-chr11:32912810..32915962,5	MCF-7	breast:
3	chr11:32850121..32852277-chr11:33088797..33091531,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRRG4	TF binding region
ENSG00000176148	Chromatin interaction
ENSG00000060749	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32837400-32850800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:32843200-32850800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:32849400-32850800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:32850400-32850800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:32850400-32850800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr11:32850400-32850800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:32850400-32850800	Enhancers	Colon Smooth Muscle	Colon
8	chr11:32850400-32850800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr11:32850400-32850800	Active TSS	Fetal Intestine Large	intestine
10	chr11:32850400-32850800	Enhancers	Fetal Intestine Small	intestine
11	chr11:32850400-32850800	Enhancers	Stomach Mucosa	stomach
12	chr11:32850400-32851000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:32850400-32851800	Active TSS	HMEC	breast
14	chr11:32850600-32850800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
15	chr11:32850600-32850800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:32850600-32850800	Bivalent Enhancer	Primary B cells from cord blood	blood
17	chr11:32850600-32850800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:32850600-32850800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:32850600-32850800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr11:32850600-32850800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:32850600-32850800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:32850600-32850800	Enhancers	Adipose Nuclei	Adipose
23	chr11:32850600-32850800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:32850600-32850800	Enhancers	Stomach Smooth Muscle	stomach
25	chr11:32850600-32850800	Flanking Active TSS	GM12878-XiMat	blood
26	chr11:32850600-32850800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:32850600-32851000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr11:32850600-32851000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr11:32850600-32851200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr11:32850600-32851200	Flanking Active TSS	Liver	Liver
31	chr11:32850600-32851600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:32850600-32852000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:32850600-32852000	Active TSS	NHEK	skin
34	chr11:32850600-32852200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:32850600-32852200	Active TSS	Hela-S3	cervix
36	chr11:32850600-32852400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr11:32850600-32852400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr11:32850600-32852400	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr11:32850600-32852400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:32850600-32852400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:32850600-32852400	Active TSS	Rectal Smooth Muscle	rectum
42	chr11:32850600-32852800	Active TSS	Duodenum Mucosa	Duodenum
43	chr11:32850600-32853000	Active TSS	Pancreatic Islets	Pancreatic Islet

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