Variant report

Variant	rs236908
Chromosome Location	chr11:72354864-72354865
allele	C/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	MAX	chr11:72353364-72354916	Hela-S3	cervix:	n/a	chr11:72353938-72353948
2	TCF12	chr11:72353912-72355011	A549	lung:	n/a	chr11:72354812-72354819
3	POLR2A	chr11:72353870-72354958	Hela-S3	cervix:	n/a	n/a
4	JUND	chr11:72354537-72354979	A549	lung:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676
5	FOS	chr11:72354256-72354969	MCF10A-Er-Src	breast:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354774-72354785 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354728-72354739 chr11:72354668-72354676
6	RAD21	chr11:72353831-72354874	HCT-116	colon:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
7	NFIC	chr11:72354128-72355194	SK-N-SH	brain:	n/a	n/a
8	JUN	chr11:72354555-72354983	K562	blood:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676
9	FOS	chr11:72354547-72354944	MCF10A-Er-Src	breast:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354774-72354785 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354728-72354739 chr11:72354668-72354676
10	JUN	chr11:72354573-72354927	Hela-S3	cervix:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676
11	JUND	chr11:72354427-72355035	SK-N-SH	brain:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676
12	MAFK	chr11:72354688-72354888	Hela-S3	cervix:	n/a	chr11:72354774-72354784 chr11:72354774-72354783 chr11:72354731-72354740
13	POLR2A	chr11:72354505-72354948	U87	brain:	n/a	n/a
14	MAZ	chr11:72353557-72354925	Hela-S3	cervix:	n/a	chr11:72353938-72353948
15	CTCF	chr11:72353545-72355632	SK-N-SH	brain:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
16	SMARCB1	chr11:72352741-72355028	Hela-S3	cervix:	n/a	chr11:72354667-72354676
17	POLR2A	chr11:72353101-72354971	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:72354298-72355024	U87	brain:	n/a	n/a
19	JUND	chr11:72354579-72354928	Hela-S3	cervix:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676
20	NFIC	chr11:72354611-72355070	ECC-1	luminal epithelium:	n/a	n/a
21	MAZ	chr11:72353906-72354977	IMR90	lung:	n/a	chr11:72353938-72353948
22	SMARCC1	chr11:72353939-72355031	Hela-S3	cervix:	n/a	chr11:72354667-72354676
23	FOSL2	chr11:72354137-72355006	A549	lung:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676
24	STAT3	chr11:72354604-72354864	MCF10A-Er-Src	breast:	n/a	n/a
25	CTCF	chr11:72353786-72355533	A549	lung:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
26	CEBPB	chr11:72354594-72354953	Hela-S3	cervix:	n/a	n/a
27	FOSL2	chr11:72354163-72355013	MCF-7	breast:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676
28	NFIC	chr11:72354488-72355078	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr11:72354459-72354998	U87	brain:	n/a	n/a
30	NR2F2	chr11:72353978-72354966	MCF-7	breast:	n/a	n/a
31	TCF7L2	chr11:72353974-72354875	HCT-116	colon:	n/a	chr11:72354667-72354676
32	CTCF	chr11:72353907-72354938	HCT-116	colon:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
33	POLR2A	chr11:72354588-72354948	HCT-116	colon:	n/a	n/a
34	MAX	chr11:72353192-72355118	A549	lung:	n/a	chr11:72353938-72353948
35	FOSL2	chr11:72354131-72355028	SK-N-SH	brain:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676
36	FOS	chr11:72354349-72354963	MCF10A-Er-Src	breast:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354774-72354785 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354728-72354739 chr11:72354668-72354676
37	FOSL2	chr11:72354408-72354957	SK-N-SH	brain:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676
38	FOSL2	chr11:72354475-72354926	A549	lung:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676
39	POLR2A	chr11:72354574-72354887	SK-N-SH	brain:	n/a	n/a
40	CHD2	chr11:72353971-72354903	Hela-S3	cervix:	n/a	n/a
41	TCF12	chr11:72354023-72355021	ECC-1	luminal epithelium:	n/a	chr11:72354812-72354819
42	FOS	chr11:72354008-72354943	HUVEC	blood vessel:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354774-72354785 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354728-72354739 chr11:72354668-72354676
43	FOS	chr11:72354565-72354934	MCF10A-Er-Src	breast:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354774-72354785 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354728-72354739 chr11:72354668-72354676
44	MAX	chr11:72353206-72355001	A549	lung:	n/a	chr11:72353938-72353948
45	CEBPB	chr11:72354663-72354874	A549	lung:	n/a	n/a
46	RCOR1	chr11:72354029-72355037	Hela-S3	cervix:	n/a	n/a
47	JUND	chr11:72354419-72354954	SK-N-SH	brain:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676
48	RAD21	chr11:72353554-72354906	SK-N-SH	brain:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
49	JUND	chr11:72353544-72355100	SK-N-SH	brain:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354668-72354676

No.	Distal block	Cell Line	Cell type
1	chr11:72352379..72355272-chr11:72384070..72386668,2	K562	blood:
2	chr11:72300263..72302231-chr11:72352736..72355134,2	K562	blood:
3	chr11:72353566..72355741-chr11:72369161..72371805,2	MCF-7	breast:

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1785213	1.00[EUR][1000 genomes]
rs341056	1.00[EUR][1000 genomes]
rs4944643	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72353000-72355000	Enhancers	Fetal Brain Male	brain
2	chr11:72353400-72355000	Enhancers	Spleen	Spleen
3	chr11:72353400-72355200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:72354200-72355000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:72354200-72355000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:72354200-72355000	Enhancers	HUVEC	blood vessel
7	chr11:72354200-72355000	Enhancers	NHDF-Ad	bronchial
8	chr11:72354200-72359600	Weak transcription	Fetal Heart	heart
9	chr11:72354400-72355000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:72354400-72355000	Flanking Active TSS	Hela-S3	cervix
11	chr11:72354600-72355000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:72354600-72355000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:72354600-72355000	Flanking Active TSS	Fetal Brain Female	brain
14	chr11:72354600-72355000	Enhancers	Pancreas	Pancrea
15	chr11:72354600-72355000	Enhancers	Stomach Smooth Muscle	stomach
16	chr11:72354600-72355000	Enhancers	NH-A	brain
17	chr11:72354600-72355000	Enhancers	NHEK	skin
18	chr11:72354600-72355200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:72354600-72361200	Weak transcription	Gastric	stomach
20	chr11:72354600-72365000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:72354800-72355000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:72354800-72355000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:72354800-72355000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:72354800-72355000	Enhancers	A549	lung
25	chr11:72354800-72355200	Enhancers	HMEC	breast
26	chr11:72354800-72355400	Enhancers	Brain Germinal Matrix	brain
27	chr11:72354800-72356400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:72354800-72359600	Weak transcription	Brain Anterior Caudate	brain

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