Variant report

Variant	rs532291736
Chromosome Location	chr11:86510858-86510859
allele	G/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	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	CTCF	chr11:86510761-86510905	MCF-7	breast:	n/a	chr11:86510819-86510832
4	CTCF	chr11:86510760-86510910	SAEC	small airway:	n/a	chr11:86510819-86510832
5	POLR2A	chr11:86510753-86513346	IMR90	lung:	n/a	n/a
6	MXI1	chr11:86510799-86510951	Hela-S3	cervix:	n/a	n/a
7	SMARCB1	chr11:86510662-86512174	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:86510738-86510933	MCF-7	breast:	n/a	chr11:86510819-86510832
9	CTCF	chr11:86510760-86510910	SK-N-SH_RA	brain:	n/a	chr11:86510819-86510832
10	GATA3	chr11:86510037-86512374	A549	lung:	n/a	n/a
11	CTCF	chr11:86510746-86510897	K562	blood:	n/a	chr11:86510819-86510832
12	RAD21	chr11:86510636-86511130	HCT-116	colon:	n/a	chr11:86510819-86510833 chr11:86511106-86511115
13	SIN3AK20	chr11:86510678-86512073	PANC-1	pancreas:	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	POLR2A	chr11:86510742-86511040	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr11:86510800-86510950	AG04449	skin:	n/a	chr11:86510819-86510832
18	RAD21	chr11:86510698-86510945	SK-N-SH_RA	brain:	n/a	chr11:86510819-86510833
19	CTCF	chr11:86510766-86510881	NHEK	skin:	n/a	chr11:86510819-86510832
20	CTCF	chr11:86510820-86510970	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr11:86510679-86510965	IMR90	lung:	n/a	chr11:86510819-86510832
22	RAD21	chr11:86510630-86511172	MCF-7	breast:	n/a	chr11:86510819-86510833 chr11:86511106-86511115
23	CTCF	chr11:86510720-86510870	SAEC	small airway:	n/a	chr11:86510819-86510832
24	CTCF	chr11:86510685-86510888	A549	lung:	n/a	chr11:86510819-86510832
25	CTCF	chr11:86510744-86510911	Hela-S3	cervix:	n/a	chr11:86510819-86510832
26	CTCF	chr11:86510839-86510874	GM10266	blood:	n/a	n/a
27	GTF2F1	chr11:86510853-86511132	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:86510744-86510915	H1-hESC	embryonic stem cell:	n/a	chr11:86510819-86510832
29	CTCF	chr11:86510515-86511157	HCT-116	colon:	n/a	chr11:86510819-86510832
30	CTCF	chr11:86510713-86510951	MCF-7	breast:	n/a	chr11:86510819-86510832
31	POLR2A	chr11:86510595-86510982	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr11:86510791-86512029	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr11:86510717-86510943	A549	lung:	n/a	chr11:86510819-86510832
34	TCF12	chr11:86510528-86514075	A549	lung:	n/a	chr11:86511110-86511117 chr11:86511890-86511900 chr11:86511552-86511559
35	JUND	chr11:86510729-86511761	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:86510760-86510910	AG04449	skin:	n/a	chr11:86510819-86510832
37	POLR2A	chr11:86509962-86514215	PANC-1	pancreas:	n/a	n/a
38	RAD21	chr11:86510402-86511749	HCT-116	colon:	n/a	chr11:86511421-86511435 chr11:86510819-86510833 chr11:86511551-86511564 chr11:86511106-86511115
39	POLR2A	chr11:86510826-86512628	ProgFib	skin:	n/a	n/a
40	MAX	chr11:86509868-86513390	A549	lung:	n/a	chr11:86512626-86512641
41	CTCF	chr11:86510780-86510930	AG09319	gingival:	n/a	chr11:86510819-86510832
42	RAD21	chr11:86510661-86510979	SK-N-SH_RA	brain:	n/a	chr11:86510819-86510833
43	ZBTB7A	chr11:86510523-86511679	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr11:86510800-86510950	AoAF	blood vessel:	n/a	chr11:86510819-86510832
45	POLR2A	chr11:86510724-86510972	A549	lung:	n/a	n/a
46	RAD21	chr11:86510709-86511301	A549	lung:	n/a	chr11:86510819-86510833 chr11:86511106-86511115
47	CTCF	chr11:86510766-86510902	Fibrobl	skin:	n/a	chr11:86510819-86510832
48	RAD21	chr11:86510659-86510937	K562	blood:	n/a	chr11:86510819-86510833
49	EP300	chr11:86510690-86511878	SK-N-SH	brain:	n/a	chr11:86510871-86510887 chr11:86511667-86511683 chr11:86511668-86511684
50	CTCF	chr11:86510720-86510870	MCF-7	breast:	n/a	chr11:86510819-86510832

No.	Distal block	Cell Line	Cell type
1	chr11:86387229..86387842-chr11:86510373..86511197,2	MCF-7	breast:
2	chr11:86510417..86513146-chr20:45982984..45985420,2	MCF-7	breast:
3	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:
4	chr11:86404850..86407164-chr11:86508188..86511166,2	MCF-7	breast:
5	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
6	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
7	chr11:86414005..86419352-chr11:86508550..86514510,10	MCF-7	breast:
8	chr11:45823710..45826999-chr11:86510358..86513611,4	MCF-7	breast:
9	chr11:86319075..86319750-chr11:86510265..86511089,4	MCF-7	breast:

Variant related genes	Relation type
PRSS23	TF binding region
ENSG00000101040	Chromatin interaction
ENSG00000254731	Chromatin interaction
ENSG00000151376	Chromatin interaction
ENSG00000181830	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86502600-86511000	Weak transcription	Fetal Kidney	kidney
2	chr11:86504600-86511000	Weak transcription	Psoas Muscle	Psoas
3	chr11:86508600-86511000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:86509800-86511000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:86510000-86511000	Enhancers	HUVEC	blood vessel
6	chr11:86510200-86511000	Enhancers	Duodenum Mucosa	Duodenum
7	chr11:86510200-86511000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:86510200-86511000	Enhancers	HSMMtube	muscle
9	chr11:86510200-86511200	Enhancers	Liver	Liver
10	chr11:86510200-86511200	Flanking Active TSS	Hela-S3	cervix
11	chr11:86510200-86511400	Flanking Active TSS	NH-A	brain
12	chr11:86510400-86511000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:86510400-86511000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:86510400-86511200	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr11:86510400-86511200	Enhancers	Fetal Lung	lung
16	chr11:86510400-86511400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:86510400-86512200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:86510600-86511000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:86510600-86511000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr11:86510600-86511000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:86510600-86511000	Enhancers	NHDF-Ad	bronchial
22	chr11:86510600-86511200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:86510600-86511200	Flanking Active TSS	A549	lung
24	chr11:86510600-86511200	Flanking Active TSS	Osteobl	bone
25	chr11:86510600-86511400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:86510600-86511400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:86510600-86511400	Enhancers	Stomach Mucosa	stomach
28	chr11:86510600-86512000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr11:86510600-86512000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr11:86510600-86512200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:86510800-86511000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:86510800-86511000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:86510800-86511000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:86510800-86511000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr11:86510800-86511000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr11:86510800-86511000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:86510800-86511000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr11:86510800-86511000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr11:86510800-86511000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
40	chr11:86510800-86511000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:86510800-86511000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:86510800-86511000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:86510800-86511000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:86510800-86511000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:86510800-86511000	Enhancers	Aorta	Aorta
46	chr11:86510800-86511000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr11:86510800-86511000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:86510800-86511000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr11:86510800-86511000	Enhancers	Placenta	Placenta
50	chr11:86510800-86511000	Flanking Active TSS	Ovary	ovary

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