Variant report

Variant	rs553664308
Chromosome Location	chr11:86511316-86511317
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	chr11:86511275-86511706	HCT-116	colon:	n/a	n/a
4	ZKSCAN1	chr11:86511221-86511883	Hela-S3	cervix:	n/a	n/a
5	MYC	chr11:86511313-86511678	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:86510753-86513346	IMR90	lung:	n/a	n/a
7	SMARCB1	chr11:86510662-86512174	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:86511222-86511802	PFSK-1	brain:	n/a	n/a
9	MAX	chr11:86510973-86511816	ECC-1	luminal epithelium:	n/a	n/a
10	TFAP2A	chr11:86511074-86511982	Hela-S3	cervix:	n/a	chr11:86511801-86511811 chr11:86511801-86511811 chr11:86511398-86511410 chr11:86511424-86511436 chr11:86511387-86511402
11	GATA3	chr11:86510037-86512374	A549	lung:	n/a	n/a
12	POLR2A	chr11:86511082-86511929	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr11:86511047-86511351	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr11:86510864-86512029	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr11:86510678-86512073	PANC-1	pancreas:	n/a	n/a
16	FOXP2	chr11:86511117-86511806	PFSK-1	brain:	n/a	n/a
17	MXI1	chr11:86510575-86512847	IMR90	lung:	n/a	n/a
18	MAX	chr11:86510695-86512348	MCF-7	breast:	n/a	n/a
19	TAF1	chr11:86510862-86511863	A549	lung:	n/a	n/a
20	MAX	chr11:86510989-86511805	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr11:86511077-86511894	ECC-1	luminal epithelium:	n/a	n/a
22	E2F6	chr11:86510923-86511688	A549	lung:	n/a	chr11:86511024-86511041
23	YY1	chr11:86511238-86511667	H1-hESC	embryonic stem cell:	n/a	chr11:86511427-86511438
24	TAF1	chr11:86510976-86512046	H1-hESC	embryonic stem cell:	n/a	n/a
25	GABPA	chr11:86511063-86511471	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr11:86510999-86511754	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr11:86510791-86512029	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF12	chr11:86510528-86514075	A549	lung:	n/a	chr11:86511110-86511117 chr11:86511890-86511900 chr11:86511552-86511559
29	JUND	chr11:86510729-86511761	MCF-7	breast:	n/a	n/a
30	MAX	chr11:86510893-86511935	A549	lung:	n/a	n/a
31	POLR2A	chr11:86509962-86514215	PANC-1	pancreas:	n/a	n/a
32	RAD21	chr11:86510402-86511749	HCT-116	colon:	n/a	chr11:86511421-86511435 chr11:86510819-86510833 chr11:86511551-86511564 chr11:86511106-86511115
33	MXI1	chr11:86511316-86511742	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr11:86511208-86511555	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:86510826-86512628	ProgFib	skin:	n/a	n/a
36	MAX	chr11:86509868-86513390	A549	lung:	n/a	chr11:86512626-86512641
37	RAD21	chr11:86511290-86511557	SK-N-SH_RA	brain:	n/a	chr11:86511421-86511435
38	ZBTB7A	chr11:86510523-86511679	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr11:86510921-86511716	MCF-7	breast:	n/a	n/a
40	POLR2A	chr11:86511088-86512030	A549	lung:	n/a	n/a
41	ZNF263	chr11:86511039-86512821	HEK293-T-REx	kidney:	n/a	n/a
42	SIN3AK20	chr11:86511282-86512425	A549	lung:	n/a	n/a
43	POLR2A	chr11:86511115-86512114	HUVEC	blood vessel:	n/a	n/a
44	EP300	chr11:86510690-86511878	SK-N-SH	brain:	n/a	chr11:86510871-86510887 chr11:86511667-86511683 chr11:86511668-86511684
45	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
46	TAF7	chr11:86510753-86511479	H1-hESC	embryonic stem cell:	n/a	n/a
47	TCF12	chr11:86510987-86511785	ECC-1	luminal epithelium:	n/a	chr11:86511110-86511117 chr11:86511552-86511559
48	POLR2A	chr11:86510303-86513281	MCF-7	breast:	n/a	n/a
49	SIN3AK20	chr11:86511234-86511494	SK-N-SH	brain:	n/a	n/a
50	REST	chr11:86511299-86511748	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45823993..45827958-chr11:86511064..86514676,4	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	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
5	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
6	chr11:86414005..86419352-chr11:86508550..86514510,10	MCF-7	breast:
7	chr11:45823710..45826999-chr11:86510358..86513611,4	MCF-7	breast:
8	chr11:86208558..86211731-chr11:86511256..86513544,4	MCF-7	breast:
9	chr11:86511205..86511742-chr9:36258343..36258974,2	Hela-S3	cervix:

Variant related genes	Relation type
PRSS23	TF binding region
ENSG00000101040	Chromatin interaction
ENSG00000159921	Chromatin interaction
ENSG00000181830	Chromatin interaction
ENSG00000151376	Chromatin interaction
ENSG00000254731	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86510200-86511400	Flanking Active TSS	NH-A	brain
2	chr11:86510400-86511400	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr11:86510400-86512200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:86510600-86511400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:86510600-86511400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:86510600-86511400	Enhancers	Stomach Mucosa	stomach
7	chr11:86510600-86512000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr11:86510600-86512000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:86510600-86512200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:86510800-86511400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:86510800-86511400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:86510800-86511400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr11:86510800-86511400	Flanking Active TSS	Lung	lung
14	chr11:86510800-86511400	Flanking Active TSS	Right Ventricle	heart
15	chr11:86510800-86511400	Flanking Active TSS	HMEC	breast
16	chr11:86510800-86511600	Active TSS	Brain Germinal Matrix	brain
17	chr11:86510800-86511800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:86510800-86511800	Active TSS	Brain Anterior Caudate	brain
19	chr11:86510800-86511800	Enhancers	Fetal Brain Male	brain
20	chr11:86510800-86511800	Enhancers	Fetal Heart	heart
21	chr11:86510800-86512000	Active TSS	Brain Angular Gyrus	brain
22	chr11:86510800-86512000	Active TSS	Brain Cingulate Gyrus	brain
23	chr11:86510800-86512400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr11:86510800-86512400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr11:86510800-86512600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr11:86510800-86512600	Active TSS	NHLF	lung
27	chr11:86510800-86513600	Active TSS	Fetal Brain Female	brain
28	chr11:86511000-86511400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr11:86511000-86511400	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:86511000-86511400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:86511000-86511400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:86511000-86511400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr11:86511000-86511400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:86511000-86511400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:86511000-86511400	Flanking Active TSS	Placenta	Placenta
36	chr11:86511000-86511400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
37	chr11:86511000-86511400	Flanking Active TSS	HUVEC	blood vessel
38	chr11:86511000-86511800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:86511000-86511800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:86511000-86511800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr11:86511000-86512000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:86511000-86512000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:86511000-86512000	Enhancers	Primary B cells from peripheral blood	blood
44	chr11:86511000-86512000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr11:86511000-86512000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:86511000-86512000	Active TSS	Brain Substantia Nigra	brain
47	chr11:86511000-86512200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:86511000-86512200	Active TSS	Esophagus	oesophagus
49	chr11:86511000-86512400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:86511000-86512400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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