Variant report

Variant	rs537281527
Chromosome Location	chr11:86511153-86511154
allele	A/G
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	TBP	chr11:86510751-86512026	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:86510685-86512050	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:86510753-86513346	IMR90	lung:	n/a	n/a
4	SMARCB1	chr11:86510662-86512174	Hela-S3	cervix:	n/a	n/a
5	MAX	chr11:86510973-86511816	ECC-1	luminal epithelium:	n/a	n/a
6	TFAP2A	chr11:86511074-86511982	Hela-S3	cervix:	n/a	chr11:86511801-86511811 chr11:86511801-86511811 chr11:86511398-86511410 chr11:86511424-86511436 chr11:86511387-86511402
7	GATA3	chr11:86510037-86512374	A549	lung:	n/a	n/a
8	POLR2A	chr11:86511082-86511929	HUVEC	blood vessel:	n/a	n/a
9	MAX	chr11:86511047-86511351	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr11:86510864-86512029	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF143	chr11:86511150-86511269	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr11:86510678-86512073	PANC-1	pancreas:	n/a	n/a
13	FOXP2	chr11:86511117-86511806	PFSK-1	brain:	n/a	n/a
14	MXI1	chr11:86510575-86512847	IMR90	lung:	n/a	n/a
15	MAX	chr11:86510695-86512348	MCF-7	breast:	n/a	n/a
16	TAF1	chr11:86510862-86511863	A549	lung:	n/a	n/a
17	MAX	chr11:86510989-86511805	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr11:86511077-86511894	ECC-1	luminal epithelium:	n/a	n/a
19	E2F6	chr11:86510923-86511688	A549	lung:	n/a	chr11:86511024-86511041
20	RAD21	chr11:86510630-86511172	MCF-7	breast:	n/a	chr11:86510819-86510833 chr11:86511106-86511115
21	CTCF	chr11:86510515-86511157	HCT-116	colon:	n/a	chr11:86510819-86510832
22	TAF1	chr11:86510976-86512046	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr11:86511063-86511471	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr11:86510999-86511754	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr11:86510791-86512029	H1-hESC	embryonic stem cell:	n/a	n/a
26	TCF12	chr11:86510528-86514075	A549	lung:	n/a	chr11:86511110-86511117 chr11:86511890-86511900 chr11:86511552-86511559
27	JUND	chr11:86510729-86511761	MCF-7	breast:	n/a	n/a
28	MAX	chr11:86510893-86511935	A549	lung:	n/a	n/a
29	POLR2A	chr11:86509962-86514215	PANC-1	pancreas:	n/a	n/a
30	RAD21	chr11:86510402-86511749	HCT-116	colon:	n/a	chr11:86511421-86511435 chr11:86510819-86510833 chr11:86511551-86511564 chr11:86511106-86511115
31	POLR2A	chr11:86510826-86512628	ProgFib	skin:	n/a	n/a
32	MAX	chr11:86509868-86513390	A549	lung:	n/a	chr11:86512626-86512641
33	ZBTB7A	chr11:86510523-86511679	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr11:86510921-86511716	MCF-7	breast:	n/a	n/a
35	POLR2A	chr11:86511088-86512030	A549	lung:	n/a	n/a
36	ZNF263	chr11:86511039-86512821	HEK293-T-REx	kidney:	n/a	n/a
37	RAD21	chr11:86510709-86511301	A549	lung:	n/a	chr11:86510819-86510833 chr11:86511106-86511115
38	POLR2A	chr11:86511115-86512114	HUVEC	blood vessel:	n/a	n/a
39	EP300	chr11:86510690-86511878	SK-N-SH	brain:	n/a	chr11:86510871-86510887 chr11:86511667-86511683 chr11:86511668-86511684
40	SP1	chr11:86510709-86511749	A549	lung:	n/a	chr11:86511440-86511454 chr11:86511044-86511058 chr11:86511144-86511156 chr11:86511048-86511058 chr11:86511444-86511453 chr11:86511145-86511154 chr11:86511047-86511059 chr11:86511048-86511057 chr11:86511048-86511058 chr11:86511443-86511455 chr11:86511144-86511156 chr11:86511145-86511155 chr11:86511047-86511059 chr11:86511049-86511058
41	TAF7	chr11:86510753-86511479	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF12	chr11:86510987-86511785	ECC-1	luminal epithelium:	n/a	chr11:86511110-86511117 chr11:86511552-86511559
43	POLR2A	chr11:86510303-86513281	MCF-7	breast:	n/a	n/a
44	POLR2A	chr11:86509643-86515323	PANC-1	pancreas:	n/a	n/a
45	MAZ	chr11:86510809-86511848	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:86511145-86511876	A549	lung:	n/a	n/a
47	POLR2A	chr11:86511025-86511807	H1-neurons	neurons:	n/a	n/a
48	E2F6	chr11:86510987-86511897	H1-hESC	embryonic stem cell:	n/a	chr11:86511726-86511738 chr11:86511024-86511041 chr11:86511887-86511897
49	HA-E2F1	chr11:86511083-86511951	Hela-S3	cervix:	n/a	chr11:86511726-86511738 chr11:86511887-86511897
50	POLR2A	chr11:86510895-86511450	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:86387229..86387842-chr11:86510373..86511197,2	MCF-7	breast:
2	chr11:45823993..45827958-chr11:86511064..86514676,4	MCF-7	breast:
3	chr11:86510417..86513146-chr20:45982984..45985420,2	MCF-7	breast:
4	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:
5	chr11:86404850..86407164-chr11:86508188..86511166,2	MCF-7	breast:
6	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
7	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
8	chr11:86414005..86419352-chr11:86508550..86514510,10	MCF-7	breast:
9	chr11:45823710..45826999-chr11:86510358..86513611,4	MCF-7	breast:

Variant related genes	Relation type
PRSS23	TF binding region
ENSG00000254731	Chromatin interaction
ENSG00000181830	Chromatin interaction
ENSG00000151376	Chromatin interaction
ENSG00000101040	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv523704	chr11:86508928-86528437	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3370524	chr11:86510129-86512677	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3415782	chr11:86510654-86512652	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86510200-86511200	Enhancers	Liver	Liver
2	chr11:86510200-86511200	Flanking Active TSS	Hela-S3	cervix
3	chr11:86510200-86511400	Flanking Active TSS	NH-A	brain
4	chr11:86510400-86511200	Flanking Active TSS	Colon Smooth Muscle	Colon
5	chr11:86510400-86511200	Enhancers	Fetal Lung	lung
6	chr11:86510400-86511400	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr11:86510400-86512200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:86510600-86511200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:86510600-86511200	Flanking Active TSS	A549	lung
10	chr11:86510600-86511200	Flanking Active TSS	Osteobl	bone
11	chr11:86510600-86511400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:86510600-86511400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:86510600-86511400	Enhancers	Stomach Mucosa	stomach
14	chr11:86510600-86512000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr11:86510600-86512000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:86510600-86512200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr11:86510800-86511200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:86510800-86511200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:86510800-86511200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr11:86510800-86511200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:86510800-86511200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:86510800-86511200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:86510800-86511200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr11:86510800-86511200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:86510800-86511200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:86510800-86511200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:86510800-86511200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr11:86510800-86511200	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr11:86510800-86511200	Flanking Active TSS	Colonic Mucosa	Colon
30	chr11:86510800-86511200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr11:86510800-86511200	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr11:86510800-86511200	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr11:86510800-86511200	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr11:86510800-86511200	Flanking Active TSS	Fetal Stomach	stomach
35	chr11:86510800-86511200	Flanking Active TSS	Left Ventricle	heart
36	chr11:86510800-86511200	Flanking Active TSS	Pancreas	Pancrea
37	chr11:86510800-86511200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:86510800-86511200	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr11:86510800-86511200	Flanking Active TSS	Right Atrium	heart
40	chr11:86510800-86511200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:86510800-86511200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr11:86510800-86511200	Flanking Active TSS	HSMM	muscle
43	chr11:86510800-86511200	Flanking Active TSS	NHEK	skin
44	chr11:86510800-86511400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:86510800-86511400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:86510800-86511400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr11:86510800-86511400	Flanking Active TSS	Lung	lung
48	chr11:86510800-86511400	Flanking Active TSS	Right Ventricle	heart
49	chr11:86510800-86511400	Flanking Active TSS	HMEC	breast
50	chr11:86510800-86511600	Active TSS	Brain Germinal Matrix	brain

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