Variant report

Variant	rs4987880
Chromosome Location	chr11:108093616-108093617
allele	A/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	ATF1	chr11:108093083-108093894	K562	blood:	n/a	n/a
2	POLR2A	chr11:108093014-108094123	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF7	chr11:108093024-108094114	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:108093141-108095061	K562	blood:	n/a	n/a
5	TEAD4	chr11:108093424-108093906	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:108092725-108094760	K562	blood:	n/a	n/a
7	MAX	chr11:108093059-108093961	A549	lung:	n/a	chr11:108093678-108093685
8	HCFC1	chr11:108092888-108095065	Hela-S3	cervix:	n/a	n/a
9	USF2	chr11:108093093-108094240	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:108091677-108096659	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:108092409-108094595	HEK293	kidney:	n/a	n/a
12	RELA	chr11:108092503-108094123	GM19193	blood:	n/a	n/a
13	POLR2A	chr11:108092979-108094242	MCF-7	breast:	n/a	n/a
14	RELA	chr11:108092623-108095186	GM19099	blood:	n/a	n/a
15	TBL1XR1	chr11:108093561-108094676	K562	blood:	n/a	n/a
16	FOS	chr11:108093609-108093631	MCF10A-Er-Src	breast:	n/a	n/a
17	NR2F2	chr11:108093517-108094859	K562	blood:	n/a	n/a
18	MAX	chr11:108092968-108094500	SK-N-SH	brain:	n/a	chr11:108093678-108093685
19	USF1	chr11:108093508-108093904	A549	lung:	n/a	n/a
20	ZBTB33	chr11:108093536-108094080	A549	lung:	n/a	n/a
21	MAX	chr11:108092922-108094328	A549	lung:	n/a	chr11:108093678-108093685
22	ZNF143	chr11:108093317-108094006	H1-hESC	embryonic stem cell:	n/a	n/a
23	TEAD4	chr11:108093023-108094941	K562	blood:	n/a	n/a
24	CTCF	chr11:108093614-108093832	ECC-1	luminal epithelium:	n/a	chr11:108093741-108093757 chr11:108093740-108093758
25	ELK1	chr11:108093128-108094199	GM12878	blood:	n/a	chr11:108093779-108093788 chr11:108093779-108093788
26	FOS	chr11:108093506-108093767	MCF10A-Er-Src	breast:	n/a	n/a
27	CTCF	chr11:108093145-108093977	K562	blood:	n/a	chr11:108093741-108093757 chr11:108093740-108093758
28	POLR2A	chr11:108093081-108094145	MCF-7	breast:	n/a	n/a
29	POU2F2	chr11:108093535-108094082	GM12878	blood:	n/a	n/a
30	CTCF	chr11:108093615-108093862	H1-hESC	embryonic stem cell:	n/a	chr11:108093741-108093757 chr11:108093740-108093758
31	POLR2A	chr11:108092834-108094975	IMR90	lung:	n/a	n/a
32	E2F6	chr11:108092997-108093949	K562	blood:	n/a	chr11:108093428-108093445 chr11:108093619-108093628 chr11:108093431-108093438 chr11:108093515-108093527 chr11:108093431-108093442 chr11:108093405-108093414
33	CREB1	chr11:108093038-108094619	K562	blood:	n/a	n/a
34	SIN3AK20	chr11:108092928-108094416	SK-N-SH	brain:	n/a	n/a
35	EGR1	chr11:108093284-108093905	K562	blood:	n/a	chr11:108093619-108093628 chr11:108093514-108093524
36	RAD21	chr11:108093571-108093923	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr11:108093585-108093930	GM19239	blood:	n/a	chr11:108093741-108093757 chr11:108093740-108093758
38	POLR2A	chr11:108092617-108094171	GM12878	blood:	n/a	n/a
39	YY1	chr11:108092620-108094212	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:108092729-108094408	SK-N-MC	brain:	n/a	n/a
41	CREB1	chr11:108092924-108094814	K562	blood:	n/a	n/a
42	POLR2A	chr11:108092551-108094701	K562	blood:	n/a	n/a
43	POLR2A	chr11:108091635-108094953	PBDE	blood:	n/a	n/a
44	TBL1XR1	chr11:108093147-108094949	K562	blood:	n/a	n/a
45	POLR2A	chr11:108093507-108094053	A549	lung:	n/a	n/a
46	YY1	chr11:108093563-108094263	SK-N-SH_RA	brain:	n/a	n/a
47	TAF1	chr11:108092692-108094316	H1-hESC	embryonic stem cell:	n/a	n/a
48	SPI1	chr11:108093263-108093836	GM12878	blood:	n/a	chr11:108093745-108093758
49	USF1	chr11:108093507-108093830	GM12878	blood:	n/a	n/a
50	IRF4	chr11:108093437-108094133	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:108093125..108093795-chr7:6048455..6049343,2	Hela-S3	cervix:
2	chr11:108092929..108093774-chr17:7475339..7476197,2	Hela-S3	cervix:
3	chr11:108092115..108094604-chr11:108367755..108370100,3	K562	blood:
4	chr1:109584303..109584839-chr11:108093125..108093788,2	Hela-S3	cervix:
5	chr11:108093199..108095517-chr11:108534185..108536757,4	K562	blood:
6	chr11:108091790..108094967-chr11:108462852..108466169,3	K562	blood:
7	chr1:52344062..52344719-chr11:108093034..108093833,2	Hela-S3	cervix:
8	chr11:108092760..108095657-chr11:108096566..108100675,5	MCF-7	breast:
9	chr11:108092435..108094238-chr11:110158688..110160206,2	MCF-7	breast:
10	chr1:169075323..169076076-chr11:108093263..108093829,2	NB4	blood:
11	chr11:107992282..107994125-chr11:108092449..108094486,3	K562	blood:
12	chr11:108093271..108093777-chr18:20513238..20513875,2	Hela-S3	cervix:
13	chr11:108092141..108094808-chr11:108335621..108340680,5	K562	blood:
14	chr11:108092327..108094549-chr11:108338651..108340680,2	K562	blood:
15	chr11:108092600..108095376-chr11:108462934..108465266,2	MCF-7	breast:
16	chr11:108093199..108095517-chr11:108534185..108536757,3	K562	blood:
17	chr11:108092910..108093711-chr15:65282014..65282828,2	Hela-S3	cervix:

Variant related genes	Relation type
ATM	TF binding region
NPAT	TF binding region
ENSG00000106305	Chromatin interaction
ENSG00000255467	Chromatin interaction
ENSG00000178202	Chromatin interaction
ENSG00000101773	Chromatin interaction
ENSG00000075239	Chromatin interaction
ENSG00000166323	Chromatin interaction
ENSG00000085433	Chromatin interaction
ENSG00000178105	Chromatin interaction
ENSG00000264817	Chromatin interaction
ENSG00000090487	Chromatin interaction
ENSG00000122512	Chromatin interaction
ENSG00000078618	Chromatin interaction
ENSG00000143153	Chromatin interaction
ENSG00000265943	Chromatin interaction
ENSG00000161960	Chromatin interaction
ENSG00000206967	Chromatin interaction
ENSG00000221607	Chromatin interaction
ENSG00000137710	Chromatin interaction
ENSG00000110723	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3092857	1.00[AMR][1000 genomes]
rs4987899	1.00[AMR][1000 genomes]
rs4987905	1.00[AMR][1000 genomes]
rs4988001	1.00[AMR][1000 genomes]
rs4988029	1.00[AMR][1000 genomes]
rs4988055	1.00[AMR][1000 genomes]
rs4988070	1.00[AMR][1000 genomes]
rs4988127	1.00[AMR][1000 genomes]
rs58989781	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108090200-108095000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:108090800-108094800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:108091000-108094000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:108091000-108097400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:108091200-108096200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:108091400-108094400	Active TSS	K562	blood
7	chr11:108091600-108094400	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr11:108091600-108094400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr11:108091600-108094400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:108091600-108094600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr11:108091600-108094800	Active TSS	Hela-S3	cervix
12	chr11:108091600-108094800	Active TSS	NHDF-Ad	bronchial
13	chr11:108091600-108095400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:108091600-108095600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:108091800-108094200	Active TSS	Placenta	Placenta
16	chr11:108091800-108094400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:108091800-108094400	Active TSS	Fetal Intestine Large	intestine
18	chr11:108091800-108094400	Active TSS	Fetal Kidney	kidney
19	chr11:108091800-108094400	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr11:108091800-108094400	Active TSS	NHLF	lung
21	chr11:108091800-108094600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:108091800-108094600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:108091800-108094600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr11:108091800-108094600	Active TSS	HSMMtube	muscle
25	chr11:108091800-108094800	Active TSS	Lung	lung
26	chr11:108091800-108095000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:108091800-108095000	Active TSS	Colonic Mucosa	Colon
28	chr11:108091800-108095000	Active TSS	Left Ventricle	heart
29	chr11:108091800-108095000	Active TSS	GM12878-XiMat	blood
30	chr11:108091800-108095200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:108091800-108095400	Active TSS	H9 Cell Line	embryonic stem cell
32	chr11:108091800-108096200	Active TSS	Primary T cells fromperipheralblood	blood
33	chr11:108091800-108096200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:108091800-108097000	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr11:108091800-108097000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr11:108091800-108098200	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr11:108092000-108094400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:108092000-108094400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:108092000-108094400	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr11:108092000-108094400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:108092000-108094400	Active TSS	HSMM	muscle
42	chr11:108092000-108094400	Active TSS	NHEK	skin
43	chr11:108092000-108094600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:108092000-108094600	Active TSS	Fetal Intestine Small	intestine
45	chr11:108092000-108094600	Active TSS	Fetal Stomach	stomach
46	chr11:108092000-108094800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:108092000-108094800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:108092000-108094800	Active TSS	HMEC	breast
49	chr11:108092000-108095000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr11:108092000-108095000	Active TSS	Muscle Satellite Cultured Cells	--

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