Variant report

Variant	rs141169733
Chromosome Location	chr11:86511408-86511409
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	CTBP2	chr11:86510864-86512029	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3AK20	chr11:86510678-86512073	PANC-1	pancreas:	n/a	n/a
15	FOXP2	chr11:86511117-86511806	PFSK-1	brain:	n/a	n/a
16	MXI1	chr11:86510575-86512847	IMR90	lung:	n/a	n/a
17	MAX	chr11:86510695-86512348	MCF-7	breast:	n/a	n/a
18	TAF1	chr11:86510862-86511863	A549	lung:	n/a	n/a
19	MAX	chr11:86510989-86511805	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr11:86511077-86511894	ECC-1	luminal epithelium:	n/a	n/a
21	E2F6	chr11:86510923-86511688	A549	lung:	n/a	chr11:86511024-86511041
22	YY1	chr11:86511238-86511667	H1-hESC	embryonic stem cell:	n/a	chr11:86511427-86511438
23	POLR2A	chr11:86511352-86511623	MCF10A-Er-Src	breast:	n/a	n/a
24	CTCF	chr11:86511336-86511425	MCF-7	breast:	n/a	n/a
25	TAF1	chr11:86510976-86512046	H1-hESC	embryonic stem cell:	n/a	n/a
26	GABPA	chr11:86511063-86511471	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr11:86510999-86511754	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr11:86510791-86512029	H1-hESC	embryonic stem cell:	n/a	n/a
29	TCF12	chr11:86510528-86514075	A549	lung:	n/a	chr11:86511110-86511117 chr11:86511890-86511900 chr11:86511552-86511559
30	JUND	chr11:86510729-86511761	MCF-7	breast:	n/a	n/a
31	MAX	chr11:86510893-86511935	A549	lung:	n/a	n/a
32	POLR2A	chr11:86509962-86514215	PANC-1	pancreas:	n/a	n/a
33	RAD21	chr11:86510402-86511749	HCT-116	colon:	n/a	chr11:86511421-86511435 chr11:86510819-86510833 chr11:86511551-86511564 chr11:86511106-86511115
34	MXI1	chr11:86511316-86511742	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr11:86511208-86511555	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:86510826-86512628	ProgFib	skin:	n/a	n/a
37	MAX	chr11:86509868-86513390	A549	lung:	n/a	chr11:86512626-86512641
38	RAD21	chr11:86511290-86511557	SK-N-SH_RA	brain:	n/a	chr11:86511421-86511435
39	ZBTB7A	chr11:86510523-86511679	ECC-1	luminal epithelium:	n/a	n/a
40	MAX	chr11:86510921-86511716	MCF-7	breast:	n/a	n/a
41	POLR2A	chr11:86511088-86512030	A549	lung:	n/a	n/a
42	ZNF263	chr11:86511039-86512821	HEK293-T-REx	kidney:	n/a	n/a
43	EP300	chr11:86511384-86511815	T-47D	breast:	n/a	chr11:86511667-86511683 chr11:86511668-86511684
44	SIN3AK20	chr11:86511282-86512425	A549	lung:	n/a	n/a
45	POLR2A	chr11:86511115-86512114	HUVEC	blood vessel:	n/a	n/a
46	EP300	chr11:86510690-86511878	SK-N-SH	brain:	n/a	chr11:86510871-86510887 chr11:86511667-86511683 chr11:86511668-86511684
47	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
48	TAF7	chr11:86510753-86511479	H1-hESC	embryonic stem cell:	n/a	n/a
49	TCF12	chr11:86510987-86511785	ECC-1	luminal epithelium:	n/a	chr11:86511110-86511117 chr11:86511552-86511559
50	POLR2A	chr11:86510303-86513281	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:86511386-86511436	SKMC	muscle:	n/a
2	chr11:86511386-86511436	HCT-116	colon:	n/a
3	chr11:86511378-86511428	HCF	heart:	n/a
4	chr11:86511378-86511428	HRPEpiC	eye:	n/a
5	chr11:86511386-86511436	HL-60	blood:	n/a
6	chr11:86511386-86511436	GM06990	blood:	n/a
7	chr11:86511378-86511428	HepG2	liver:	n/a
8	chr11:86511386-86511436	CMK	blood:	n/a
9	chr11:86511386-86511436	BJ	skin:	n/a
10	chr11:86511378-86511428	AoSMC	blood vessel:	n/a
11	chr11:86511378-86511428	A549	lung:	n/a
12	chr11:86511386-86511436	AoSMC	blood vessel:	n/a
13	chr11:86511378-86511428	GM12878	blood:	n/a
14	chr11:86511386-86511436	RPTEC	kidney:	n/a
15	chr11:86511378-86511428	BE2_C	brain:	n/a
16	chr11:86511378-86511428	AG09319	gingival:	n/a
17	chr11:86511386-86511436	H1-hESC	embryonic stem cell:	embryo
18	chr11:86511378-86511428	Jurkat	blood:	n/a
19	chr11:86511378-86511428	Caco-2	colon:	n/a
20	chr11:86511378-86511428	Hepatocyte	liver:	n/a
21	chr11:86511378-86511428	ECC-1	luminal epithelium:	n/a
22	chr11:86511378-86511428	ProgFib	skin:	n/a
23	chr11:86511378-86511428	NT2-D1	testis:	n/a
24	chr11:86511378-86511428	SK-N-MC	brain:	n/a
25	chr11:86511378-86511428	HUVEC	blood vessel:	n/a
26	chr11:86511378-86511428	NH-A	brain:	n/a
27	chr11:86511386-86511436	MCF10A-Er-Src	breast:	n/a
28	chr11:86511378-86511428	MCF-7	breast:	n/a
29	chr11:86511378-86511428	AG10803	skin:	n/a
30	chr11:86511386-86511436	T-47D	breast:	n/a
31	chr11:86511386-86511436	HUVEC	blood vessel:	n/a
32	chr11:86511378-86511428	U87	brain:	n/a
33	chr11:86511378-86511428	BJ	skin:	n/a
34	chr11:86511378-86511428	HNPCEpiC	eye:	n/a
35	chr11:86511378-86511428	HCM	heart:	n/a
36	chr11:86511378-86511428	ovcar-3	ovarian:	n/a
37	chr11:86511378-86511428	HEK293	kidney:	embryo
38	chr11:86511386-86511436	ovcar-3	ovarian:	n/a
39	chr11:86511386-86511436	SAEC	small airway:	n/a
40	chr11:86511378-86511428	H1-hESC	embryonic stem cell:	embryo
41	chr11:86511386-86511436	AG04450	lung:	fetal
42	chr11:86511386-86511436	SK-N-SH_RA	brain:	n/a
43	chr11:86511378-86511428	CMK	blood:	n/a
44	chr11:86511386-86511436	HIPEpiC	eye:	n/a
45	chr11:86511378-86511428	HRCEpiC	kidney:	n/a
46	chr11:86511386-86511436	ProgFib	skin:	n/a
47	chr11:86511386-86511436	HRE	kidney:	n/a
48	chr11:86511386-86511436	SK-N-SH	brain:	n/a
49	chr11:86511386-86511436	NT2-D1	testis:	n/a
50	chr11:86511378-86511428	Hela-S3	cervix:	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
PRSS23	CpG island
ENSG00000254731	Chromatin interaction
ENSG00000151376	Chromatin interaction
ENSG00000181830	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000159921	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86510400-86512200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:86510600-86512000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr11:86510600-86512000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:86510600-86512200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:86510800-86511600	Active TSS	Brain Germinal Matrix	brain
6	chr11:86510800-86511800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:86510800-86511800	Active TSS	Brain Anterior Caudate	brain
8	chr11:86510800-86511800	Enhancers	Fetal Brain Male	brain
9	chr11:86510800-86511800	Enhancers	Fetal Heart	heart
10	chr11:86510800-86512000	Active TSS	Brain Angular Gyrus	brain
11	chr11:86510800-86512000	Active TSS	Brain Cingulate Gyrus	brain
12	chr11:86510800-86512400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:86510800-86512400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:86510800-86512600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:86510800-86512600	Active TSS	NHLF	lung
16	chr11:86510800-86513600	Active TSS	Fetal Brain Female	brain
17	chr11:86511000-86511800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:86511000-86511800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:86511000-86511800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:86511000-86512000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:86511000-86512000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:86511000-86512000	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:86511000-86512000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr11:86511000-86512000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:86511000-86512000	Active TSS	Brain Substantia Nigra	brain
26	chr11:86511000-86512200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:86511000-86512200	Active TSS	Esophagus	oesophagus
28	chr11:86511000-86512400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:86511000-86512400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:86511000-86512600	Bivalent/Poised TSS	Thymus	Thymus
31	chr11:86511000-86512800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:86511000-86513200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:86511000-86513400	Active TSS	Aorta	Aorta
34	chr11:86511000-86513400	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr11:86511000-86513800	Active TSS	Ovary	ovary
36	chr11:86511000-86514000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:86511000-86514000	Active TSS	Fetal Kidney	kidney
38	chr11:86511000-86514800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:86511200-86511600	Enhancers	Primary B cells from cord blood	blood
40	chr11:86511200-86511600	Active TSS	Primary hematopoietic stem cells	blood
41	chr11:86511200-86511600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:86511200-86511600	Weak transcription	Spleen	Spleen
43	chr11:86511200-86511800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:86511200-86511800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr11:86511200-86511800	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
46	chr11:86511200-86511800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:86511200-86511800	Active TSS	Adipose Nuclei	Adipose
48	chr11:86511200-86511800	Active TSS	Colonic Mucosa	Colon
49	chr11:86511200-86511800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr11:86511200-86511800	Active TSS	Fetal Intestine Small	intestine

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