Variant report

Variant	rs907854
Chromosome Location	chr11:72353784-72353785
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	ZBTB7A	chr11:72353546-72353825	K562	blood:	n/a	n/a
2	MAX	chr11:72353364-72354916	Hela-S3	cervix:	n/a	chr11:72353938-72353948
3	POLR2A	chr11:72353536-72353809	HCT-116	colon:	n/a	n/a
4	E2F6	chr11:72353544-72354408	K562	blood:	n/a	chr11:72353789-72353801
5	SIN3A	chr11:72353539-72354503	H1-hESC	embryonic stem cell:	n/a	chr11:72354328-72354341 chr11:72353579-72353592
6	ZBTB7A	chr11:72353510-72354581	ECC-1	luminal epithelium:	n/a	chr11:72354239-72354248
7	E2F6	chr11:72353402-72354472	K562	blood:	n/a	chr11:72353789-72353801
8	MYC	chr11:72353670-72354511	K562	blood:	n/a	chr11:72353938-72353948
9	BHLHE40	chr11:72353670-72354400	K562	blood:	n/a	n/a
10	MAX	chr11:72353701-72354443	A549	lung:	n/a	chr11:72353938-72353948
11	POLR2A	chr11:72353549-72353784	HCT-116	colon:	n/a	n/a
12	MAX	chr11:72353569-72354390	ECC-1	luminal epithelium:	n/a	chr11:72353938-72353948
13	MAZ	chr11:72353557-72354925	Hela-S3	cervix:	n/a	chr11:72353938-72353948
14	CTCF	chr11:72353545-72355632	SK-N-SH	brain:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
15	MAX	chr11:72353525-72354632	K562	blood:	n/a	chr11:72353938-72353948
16	ZBTB7A	chr11:72353547-72354779	ECC-1	luminal epithelium:	n/a	chr11:72354239-72354248
17	SMARCB1	chr11:72352741-72355028	Hela-S3	cervix:	n/a	chr11:72354667-72354676
18	POLR2A	chr11:72353101-72354971	Hela-S3	cervix:	n/a	n/a
19	MYC	chr11:72353728-72354752	A549	lung:	n/a	chr11:72353938-72353948
20	MYC	chr11:72353607-72354511	K562	blood:	n/a	chr11:72353938-72353948
21	POLR2A	chr11:72353569-72353800	Hela-S3	cervix:	n/a	n/a
22	IRF1	chr11:72353322-72354280	K562	blood:	n/a	n/a
23	E2F6	chr11:72353541-72354502	A549	lung:	n/a	chr11:72353789-72353801
24	CTCF	chr11:72353660-72353810	GM12873	blood:	n/a	n/a
25	POLR2A	chr11:72353525-72353827	Hela-S3	cervix:	n/a	n/a
26	MAX	chr11:72353779-72354419	SK-N-SH	brain:	n/a	chr11:72353938-72353948
27	MAX	chr11:72353552-72354507	HepG2	liver:	n/a	chr11:72353938-72353948
28	MAX	chr11:72353292-72354393	K562	blood:	n/a	chr11:72353938-72353948
29	MAX	chr11:72353210-72353836	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr11:72353192-72355118	A549	lung:	n/a	chr11:72353938-72353948
31	SMC3	chr11:72353378-72354716	SK-N-SH	brain:	n/a	chr11:72354240-72354250 chr11:72354240-72354254 chr11:72353744-72353754
32	UBTF	chr11:72353269-72354453	K562	blood:	n/a	n/a
33	SIN3AK20	chr11:72353539-72353817	H1-hESC	embryonic stem cell:	n/a	n/a
34	E2F6	chr11:72353783-72354688	H1-hESC	embryonic stem cell:	n/a	chr11:72354551-72354563 chr11:72353789-72353801
35	RCOR1	chr11:72353574-72353794	Hela-S3	cervix:	n/a	n/a
36	MAX	chr11:72353763-72354347	MCF-7	breast:	n/a	chr11:72353938-72353948
37	MAX	chr11:72353774-72354461	MCF-7	breast:	n/a	chr11:72353938-72353948
38	MXI1	chr11:72353152-72354771	SK-N-SH	brain:	n/a	n/a
39	HMGN3	chr11:72353291-72354496	K562	blood:	n/a	n/a
40	MAX	chr11:72353206-72355001	A549	lung:	n/a	chr11:72353938-72353948
41	CTCF	chr11:72353760-72353910	GM12870	blood:	n/a	n/a
42	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
43	MAX	chr11:72353163-72353822	H1-hESC	embryonic stem cell:	n/a	n/a
44	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	chr11:72352692..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	chr1:9294464..9295463-chr11:72353109..72353947,2	Hela-S3	cervix:
6	chr11:72353566..72355741-chr11:72369161..72371805,2	MCF-7	breast:
7	chr11:72300430..72301672-chr11:72353759..72354743,12	MCF-7	breast:
8	chr11:72300453..72301777-chr11:72353784..72354737,6	K562	blood:

Variant related genes	Relation type
ENSG00000255808	TF binding region
PDE2A	TF binding region
ENSG00000049239	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11235551	0.87[ASN][1000 genomes]
rs11235556	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235557	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235558	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11235559	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12146545	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12276767	0.87[ASN][1000 genomes]
rs12362256	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12363065	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12797368	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12797791	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12804316	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1391888	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs163694	0.81[ASN][1000 genomes]
rs189332	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2035467	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2037030	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs341051	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs341052	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs341060	0.86[ASN][1000 genomes]
rs341061	0.86[ASN][1000 genomes]
rs341062	0.84[ASN][1000 genomes]
rs342322	0.86[ASN][1000 genomes]
rs3758934	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3758935	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3758936	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3781913	0.86[ASN][1000 genomes]
rs3781916	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3825009	0.86[ASN][1000 genomes]
rs401801	0.83[ASN][1000 genomes]
rs455611	0.96[ASN][1000 genomes]
rs456405	0.82[ASN][1000 genomes]
rs458275	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs458575	0.87[ASN][1000 genomes]
rs56133505	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61895572	0.87[ASN][1000 genomes]
rs7105428	0.83[ASN][1000 genomes]
rs7119321	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7126790	0.80[ASN][1000 genomes]
rs907853	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907856	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs907857	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs907858	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs932074	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs932075	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][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:117 , 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	chr11:72353200-72353800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr11:72353200-72353800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
22	chr11:72353200-72353800	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:72353200-72354000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:72353200-72354000	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
25	chr11:72353200-72354000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:72353200-72354000	Active TSS	NHLF	lung
27	chr11:72353200-72354200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr11:72353200-72354200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:72353200-72354200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:72353200-72354200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:72353200-72354200	Active TSS	Aorta	Aorta
32	chr11:72353200-72354200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr11:72353200-72354200	Bivalent/Poised TSS	Thymus	Thymus
34	chr11:72353200-72354200	Active TSS	NH-A	brain
35	chr11:72353200-72354400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:72353200-72354400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr11:72353200-72354400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:72353200-72354400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr11:72353200-72354400	Active TSS	Hela-S3	cervix
40	chr11:72353200-72354400	Active TSS	HSMM	muscle
41	chr11:72353200-72354400	Active TSS	HSMMtube	muscle
42	chr11:72353200-72354600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr11:72353200-72354600	Active TSS	Brain Anterior Caudate	brain
44	chr11:72353200-72354600	Active TSS	Fetal Brain Female	brain
45	chr11:72353200-72354600	Active TSS	K562	blood
46	chr11:72353400-72353800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr11:72353400-72353800	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr11:72353400-72353800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr11:72353400-72353800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
50	chr11:72353400-72354000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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