Variant report

Variant	rs907853
Chromosome Location	chr11:72354028-72354029
allele	G/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	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	CTCF	chr11:72354003-72354472	HepG2	liver:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
12	RAD21	chr11:72353831-72354874	HCT-116	colon:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
13	SIN3A	chr11:72353539-72354503	H1-hESC	embryonic stem cell:	n/a	chr11:72354328-72354341 chr11:72353579-72353592
14	ZBTB7A	chr11:72353510-72354581	ECC-1	luminal epithelium:	n/a	chr11:72354239-72354248
15	E2F6	chr11:72353402-72354472	K562	blood:	n/a	chr11:72353789-72353801
16	MYC	chr11:72354027-72354326	MCF10A-Er-Src	breast:	n/a	n/a
17	THAP1	chr11:72354021-72354379	K562	blood:	n/a	n/a
18	MYC	chr11:72353670-72354511	K562	blood:	n/a	chr11:72353938-72353948
19	SMC3	chr11:72354004-72354449	GM12878	blood:	n/a	chr11:72354240-72354250 chr11:72354240-72354254
20	BHLHE40	chr11:72353670-72354400	K562	blood:	n/a	n/a
21	CTCF	chr11:72354023-72354618	GM19238	blood:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
22	CTCF	chr11:72353985-72354486	K562	blood:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
23	MAX	chr11:72353938-72354255	H1-hESC	embryonic stem cell:	n/a	chr11:72353938-72353948
24	MAX	chr11:72353701-72354443	A549	lung:	n/a	chr11:72353938-72353948
25	UBTF	chr11:72353938-72354306	K562	blood:	n/a	n/a
26	POLR2A	chr11:72353948-72354260	K562	blood:	n/a	n/a
27	RAD21	chr11:72353961-72354387	K562	blood:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
28	POLR2A	chr11:72353918-72354331	Hela-S3	cervix:	n/a	n/a
29	E2F6	chr11:72353891-72354420	A549	lung:	n/a	n/a
30	POLR2A	chr11:72354028-72354309	HCT-116	colon:	n/a	n/a
31	MXI1	chr11:72353973-72354413	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr11:72353968-72354499	MCF-7	breast:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
33	MAX	chr11:72353807-72354691	H1-hESC	embryonic stem cell:	n/a	chr11:72353938-72353948
34	RAD21	chr11:72354020-72354437	IMR90	lung:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
35	POLR2A	chr11:72354022-72354477	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr11:72353939-72354628	HCT-116	colon:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
37	GTF2F1	chr11:72354023-72354267	K562	blood:	n/a	n/a
38	MAX	chr11:72353569-72354390	ECC-1	luminal epithelium:	n/a	chr11:72353938-72353948
39	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
40	MAZ	chr11:72353557-72354925	Hela-S3	cervix:	n/a	chr11:72353938-72353948
41	CTCF	chr11:72353545-72355632	SK-N-SH	brain:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
42	SP4	chr11:72354017-72354436	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr11:72353965-72354481	A549	lung:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
44	MAX	chr11:72353525-72354632	K562	blood:	n/a	chr11:72353938-72353948
45	ZBTB7A	chr11:72353547-72354779	ECC-1	luminal epithelium:	n/a	chr11:72354239-72354248
46	EP300	chr11:72353950-72354652	A549	lung:	n/a	chr11:72354286-72354302 chr11:72354290-72354306
47	CBX3	chr11:72353794-72354424	K562	blood:	n/a	n/a
48	ZNF263	chr11:72353984-72354545	HEK293-T-REx	kidney:	n/a	n/a
49	MAX	chr11:72353851-72354318	K562	blood:	n/a	chr11:72353938-72353948
50	SMARCB1	chr11:72352741-72355028	Hela-S3	cervix:	n/a	chr11:72354667-72354676

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72354022-72354072	AG10803	skin:	n/a
2	chr11:72354022-72354072	NHDF-neo	bronchial:	n/a
3	chr11:72354022-72354072	IMR90	lung:	fetal
4	chr11:72354022-72354072	HCPEpiC	choroid plexus:	n/a
5	chr11:72354022-72354072	AoSMC	blood vessel:	n/a
6	chr11:72354022-72354072	NH-A	brain:	n/a
7	chr11:72354022-72354072	SK-N-SH_RA	brain:	n/a
8	chr11:72354022-72354072	U87	brain:	n/a
9	chr11:72354022-72354072	HRE	kidney:	n/a
10	chr11:72354022-72354072	HCF	heart:	n/a
11	chr11:72354022-72354072	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:72354022-72354072	ovcar-3	ovarian:	n/a
13	chr11:72354022-72354072	GM06990	blood:	n/a
14	chr11:72354022-72354072	AG04450	lung:	fetal
15	chr11:72354022-72354072	HAEpiC	amniotic membrane:	n/a
16	chr11:72354022-72354072	HCT-116	colon:	n/a
17	chr11:72354022-72354072	T-47D	breast:	n/a
18	chr11:72354022-72354072	NT2-D1	testis:	n/a
19	chr11:72354022-72354072	GM12878	blood:	n/a
20	chr11:72354022-72354072	Hela-S3	cervix:	n/a
21	chr11:72354022-72354072	Hepatocyte	liver:	n/a
22	chr11:72354022-72354072	SAEC	small airway:	n/a
23	chr11:72354022-72354072	MCF10A-Er-Src	breast:	n/a
24	chr11:72354022-72354072	HMEC	breast:	n/a
25	chr11:72354022-72354072	PFSK-1	brain:	n/a
26	chr11:72354022-72354072	HEEpiC	esophagus:	n/a
27	chr11:72354022-72354072	GM12892	blood:	n/a
28	chr11:72354022-72354072	HRCEpiC	kidney:	n/a
29	chr11:72354022-72354072	HCM	heart:	n/a
30	chr11:72354022-72354072	HIPEpiC	eye:	n/a
31	chr11:72354022-72354072	RPTEC	kidney:	n/a
32	chr11:72354022-72354072	AG09309	skin:	n/a
33	chr11:72354022-72354072	AG09319	gingival:	n/a
34	chr11:72354022-72354072	A549	lung:	n/a
35	chr11:72354022-72354072	HNPCEpiC	eye:	n/a
36	chr11:72354022-72354072	AG04449	skin:	fetal
37	chr11:72354022-72354072	Caco-2	colon:	n/a
38	chr11:72354022-72354072	HRPEpiC	eye:	n/a
39	chr11:72354022-72354072	ECC-1	luminal epithelium:	n/a
40	chr11:72354022-72354072	SK-N-MC	brain:	n/a
41	chr11:72354022-72354072	PrEC	prostate:	n/a
42	chr11:72354022-72354072	HL-60	blood:	n/a
43	chr11:72354022-72354072	LNCaP	prostate:	n/a
44	chr11:72354022-72354072	NHBE	bronchial:	n/a
45	chr11:72354022-72354072	MCF-7	breast:	n/a
46	chr11:72354022-72354072	H1-hESC	embryonic stem cell:	embryo
47	chr11:72354022-72354072	CMK	blood:	n/a
48	chr11:72354022-72354072	BJ	skin:	n/a
49	chr11:72354022-72354072	GM12891	blood:	n/a
50	chr11:72354022-72354072	PANC-1	pancreas:	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
PDE2A	CpG island
ENSG00000255808	CpG island
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	0.82[AFR][1000 genomes];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	0.82[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	0.97[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	0.82[AFR][1000 genomes];0.99[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	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2037030	0.97[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	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7126790	0.80[ASN][1000 genomes]
rs907854	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	0.82[AFR][1000 genomes];0.98[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:121 , 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	chr11:72352800-72354200	Active TSS	Brain Cingulate Gyrus	brain
8	chr11:72352800-72354400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:72352800-72354600	Bivalent/Poised TSS	HepG2	liver
10	chr11:72353000-72354200	Active TSS	Brain Substantia Nigra	brain
11	chr11:72353000-72354200	Active TSS	Gastric	stomach
12	chr11:72353000-72354400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:72353000-72354400	Active TSS	Brain Hippocampus Middle	brain
14	chr11:72353000-72354600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:72353000-72354600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr11:72353000-72354600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr11:72353000-72354600	Active TSS	Colon Smooth Muscle	Colon
18	chr11:72353000-72355000	Enhancers	Fetal Brain Male	brain
19	chr11:72353200-72354200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr11:72353200-72354200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:72353200-72354200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:72353200-72354200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:72353200-72354200	Active TSS	Aorta	Aorta
24	chr11:72353200-72354200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr11:72353200-72354200	Bivalent/Poised TSS	Thymus	Thymus
26	chr11:72353200-72354200	Active TSS	NH-A	brain
27	chr11:72353200-72354400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:72353200-72354400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:72353200-72354400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:72353200-72354400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:72353200-72354400	Active TSS	Hela-S3	cervix
32	chr11:72353200-72354400	Active TSS	HSMM	muscle
33	chr11:72353200-72354400	Active TSS	HSMMtube	muscle
34	chr11:72353200-72354600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:72353200-72354600	Active TSS	Brain Anterior Caudate	brain
36	chr11:72353200-72354600	Active TSS	Fetal Brain Female	brain
37	chr11:72353200-72354600	Active TSS	K562	blood
38	chr11:72353400-72354200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:72353400-72354200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:72353400-72354400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr11:72353400-72354400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
42	chr11:72353400-72354400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:72353400-72354400	Active TSS	Psoas Muscle	Psoas
44	chr11:72353400-72354400	Active TSS	A549	lung
45	chr11:72353400-72354600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:72353400-72354600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:72353400-72355000	Enhancers	Spleen	Spleen
48	chr11:72353400-72355200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:72353600-72354200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:72353600-72354200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung

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