Variant report

Variant	rs56165063
Chromosome Location	chr11:72353997-72353998
allele	C/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	MTA3	chr11:72353997-72354394	GM12878	blood:	n/a	n/a
2	MXI1	chr11:72353899-72354305	Hela-S3	cervix:	n/a	n/a
3	MAX	chr11:72353364-72354916	Hela-S3	cervix:	n/a	chr11:72353938-72353948
4	TCF12	chr11:72353912-72355011	A549	lung:	n/a	chr11:72354812-72354819
5	MAX	chr11:72353833-72354462	NB4	blood:	n/a	chr11:72353938-72353948
6	MYC	chr11:72353990-72354475	NB4	blood:	n/a	n/a
7	POLR2A	chr11:72353870-72354958	Hela-S3	cervix:	n/a	n/a
8	KAP1	chr11:72353983-72354393	U2OS	brain:	n/a	n/a
9	RAD21	chr11:72353967-72354487	H1-hESC	embryonic stem cell:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
10	E2F6	chr11:72353544-72354408	K562	blood:	n/a	chr11:72353789-72353801
11	RAD21	chr11:72353831-72354874	HCT-116	colon:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
12	SIN3A	chr11:72353539-72354503	H1-hESC	embryonic stem cell:	n/a	chr11:72354328-72354341 chr11:72353579-72353592
13	ZBTB7A	chr11:72353510-72354581	ECC-1	luminal epithelium:	n/a	chr11:72354239-72354248
14	E2F6	chr11:72353402-72354472	K562	blood:	n/a	chr11:72353789-72353801
15	MYC	chr11:72353670-72354511	K562	blood:	n/a	chr11:72353938-72353948
16	BHLHE40	chr11:72353670-72354400	K562	blood:	n/a	n/a
17	CTCF	chr11:72353985-72354486	K562	blood:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
18	MAX	chr11:72353938-72354255	H1-hESC	embryonic stem cell:	n/a	chr11:72353938-72353948
19	MAX	chr11:72353701-72354443	A549	lung:	n/a	chr11:72353938-72353948
20	UBTF	chr11:72353938-72354306	K562	blood:	n/a	n/a
21	POLR2A	chr11:72353948-72354260	K562	blood:	n/a	n/a
22	RAD21	chr11:72353961-72354387	K562	blood:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
23	POLR2A	chr11:72353918-72354331	Hela-S3	cervix:	n/a	n/a
24	E2F6	chr11:72353891-72354420	A549	lung:	n/a	n/a
25	MXI1	chr11:72353973-72354413	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr11:72353968-72354499	MCF-7	breast:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
27	MAX	chr11:72353807-72354691	H1-hESC	embryonic stem cell:	n/a	chr11:72353938-72353948
28	CTCF	chr11:72353939-72354628	HCT-116	colon:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
29	MAX	chr11:72353569-72354390	ECC-1	luminal epithelium:	n/a	chr11:72353938-72353948
30	RAD21	chr11:72353955-72354500	SK-N-SH_RA	brain:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
31	MAZ	chr11:72353557-72354925	Hela-S3	cervix:	n/a	chr11:72353938-72353948
32	CTCF	chr11:72353545-72355632	SK-N-SH	brain:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
33	CTCF	chr11:72353965-72354481	A549	lung:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
34	MAX	chr11:72353525-72354632	K562	blood:	n/a	chr11:72353938-72353948
35	ZBTB7A	chr11:72353547-72354779	ECC-1	luminal epithelium:	n/a	chr11:72354239-72354248
36	EP300	chr11:72353950-72354652	A549	lung:	n/a	chr11:72354286-72354302 chr11:72354290-72354306
37	CBX3	chr11:72353794-72354424	K562	blood:	n/a	n/a
38	ZNF263	chr11:72353984-72354545	HEK293-T-REx	kidney:	n/a	n/a
39	MAX	chr11:72353851-72354318	K562	blood:	n/a	chr11:72353938-72353948
40	SMARCB1	chr11:72352741-72355028	Hela-S3	cervix:	n/a	chr11:72354667-72354676
41	POLR2A	chr11:72353101-72354971	Hela-S3	cervix:	n/a	n/a
42	ZBTB7A	chr11:72353848-72354765	K562	blood:	n/a	chr11:72354239-72354248
43	CTCF	chr11:72353995-72354446	T-47D	breast:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
44	MYC	chr11:72353728-72354752	A549	lung:	n/a	chr11:72353938-72353948
45	MYC	chr11:72353607-72354511	K562	blood:	n/a	chr11:72353938-72353948
46	TBP	chr11:72353957-72354494	K562	blood:	n/a	n/a
47	MAZ	chr11:72353906-72354977	IMR90	lung:	n/a	chr11:72353938-72353948
48	SMARCC1	chr11:72353939-72355031	Hela-S3	cervix:	n/a	chr11:72354667-72354676
49	MYC	chr11:72353954-72354297	MCF-7	breast:	n/a	n/a
50	ZKSCAN1	chr11:72353960-72354334	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72352692..72354361-chr11:72368071..72370416,2	K562	blood:
2	chr11:72352379..72355272-chr11:72384070..72386668,2	K562	blood:
3	chr11:72300263..72302231-chr11:72352736..72355134,2	K562	blood:
4	chr11:72300551..72301398-chr11:72353784..72354837,3	MCF-7	breast:
5	chr11:72353566..72355741-chr11:72369161..72371805,2	MCF-7	breast:
6	chr11:72300430..72301672-chr11:72353759..72354743,12	MCF-7	breast:
7	chr11:72300453..72301777-chr11:72353784..72354737,6	K562	blood:

Variant related genes	Relation type
ENSG00000255808	TF binding region
PDE2A	TF binding region
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11822008	1.00[AMR][1000 genomes]
rs11823678	1.00[AMR][1000 genomes]
rs11824399	0.83[AMR][1000 genomes]
rs11828329	1.00[AMR][1000 genomes]
rs28435513	1.00[AMR][1000 genomes]
rs7115561	1.00[AMR][1000 genomes]
rs7123699	0.83[AMR][1000 genomes]
rs7123937	0.83[AMR][1000 genomes]
rs7128760	1.00[AMR][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72351000-72354200	Active TSS	Left Ventricle	heart
2	chr11:72351000-72354400	Active TSS	Right Atrium	heart
3	chr11:72351400-72354400	Active TSS	Brain Angular Gyrus	brain
4	chr11:72351800-72354200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:72351800-72354400	Active TSS	Ovary	ovary
6	chr11:72352600-72354800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:72352800-72354000	Active TSS	Rectal Smooth Muscle	rectum
8	chr11:72352800-72354200	Active TSS	Brain Cingulate Gyrus	brain
9	chr11:72352800-72354400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:72352800-72354600	Bivalent/Poised TSS	HepG2	liver
11	chr11:72353000-72354200	Active TSS	Brain Substantia Nigra	brain
12	chr11:72353000-72354200	Active TSS	Gastric	stomach
13	chr11:72353000-72354400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr11:72353000-72354400	Active TSS	Brain Hippocampus Middle	brain
15	chr11:72353000-72354600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:72353000-72354600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:72353000-72354600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:72353000-72354600	Active TSS	Colon Smooth Muscle	Colon
19	chr11:72353000-72355000	Enhancers	Fetal Brain Male	brain
20	chr11:72353200-72354000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:72353200-72354000	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
22	chr11:72353200-72354000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:72353200-72354000	Active TSS	NHLF	lung
24	chr11:72353200-72354200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr11:72353200-72354200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:72353200-72354200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:72353200-72354200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:72353200-72354200	Active TSS	Aorta	Aorta
29	chr11:72353200-72354200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr11:72353200-72354200	Bivalent/Poised TSS	Thymus	Thymus
31	chr11:72353200-72354200	Active TSS	NH-A	brain
32	chr11:72353200-72354400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:72353200-72354400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr11:72353200-72354400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:72353200-72354400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:72353200-72354400	Active TSS	Hela-S3	cervix
37	chr11:72353200-72354400	Active TSS	HSMM	muscle
38	chr11:72353200-72354400	Active TSS	HSMMtube	muscle
39	chr11:72353200-72354600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr11:72353200-72354600	Active TSS	Brain Anterior Caudate	brain
41	chr11:72353200-72354600	Active TSS	Fetal Brain Female	brain
42	chr11:72353200-72354600	Active TSS	K562	blood
43	chr11:72353400-72354000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:72353400-72354000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:72353400-72354000	Enhancers	Primary hematopoietic stem cells	blood
46	chr11:72353400-72354000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
47	chr11:72353400-72354000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:72353400-72354000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:72353400-72354000	Bivalent/Poised TSS	Colonic Mucosa	Colon
50	chr11:72353400-72354000	Active TSS	Placenta Amnion	Placenta Amnion

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