Variant report

Variant	rs4987882
Chromosome Location	chr11:108094277-108094278
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	YY1	chr11:108093653-108094380	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:108093141-108095061	K562	blood:	n/a	n/a
3	POLR2A	chr11:108092725-108094760	K562	blood:	n/a	n/a
4	HCFC1	chr11:108092888-108095065	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:108091677-108096659	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:108092409-108094595	HEK293	kidney:	n/a	n/a
7	SIRT6	chr11:108093683-108095123	K562	blood:	n/a	n/a
8	MAZ	chr11:108094202-108094536	HepG2	liver:	n/a	n/a
9	RELA	chr11:108092623-108095186	GM19099	blood:	n/a	n/a
10	TBL1XR1	chr11:108093561-108094676	K562	blood:	n/a	n/a
11	NR2F2	chr11:108093517-108094859	K562	blood:	n/a	n/a
12	MAX	chr11:108092968-108094500	SK-N-SH	brain:	n/a	chr11:108093678-108093685
13	POLR2A	chr11:108094273-108094281	MCF-7	breast:	n/a	n/a
14	MAX	chr11:108092922-108094328	A549	lung:	n/a	chr11:108093678-108093685
15	TEAD4	chr11:108093023-108094941	K562	blood:	n/a	n/a
16	POLR2A	chr11:108092834-108094975	IMR90	lung:	n/a	n/a
17	CREB1	chr11:108093038-108094619	K562	blood:	n/a	n/a
18	SIN3AK20	chr11:108092928-108094416	SK-N-SH	brain:	n/a	n/a
19	GATA2	chr11:108093957-108094601	K562	blood:	n/a	chr11:108094418-108094425 chr11:108094418-108094428 chr11:108094416-108094426 chr11:108094452-108094461 chr11:108094450-108094463 chr11:108094416-108094425 chr11:108094339-108094356 chr11:108094418-108094425 chr11:108094418-108094425
20	POLR2A	chr11:108092729-108094408	SK-N-MC	brain:	n/a	n/a
21	CREB1	chr11:108092924-108094814	K562	blood:	n/a	n/a
22	POLR2A	chr11:108092551-108094701	K562	blood:	n/a	n/a
23	POLR2A	chr11:108091635-108094953	PBDE	blood:	n/a	n/a
24	TBL1XR1	chr11:108093147-108094949	K562	blood:	n/a	n/a
25	TAF1	chr11:108092692-108094316	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF1	chr11:108092916-108094668	K562	blood:	n/a	n/a
27	BACH1	chr11:108093717-108094575	K562	blood:	n/a	n/a
28	POLR2A	chr11:108093017-108094364	HCT-116	colon:	n/a	n/a
29	MYC	chr11:108093152-108094522	K562	blood:	n/a	chr11:108093678-108093685
30	MAZ	chr11:108092096-108094312	IMR90	lung:	n/a	chr11:108093678-108093685
31	MYC	chr11:108093013-108094591	K562	blood:	n/a	chr11:108093678-108093685
32	RELA	chr11:108092324-108095081	GM15510	blood:	n/a	n/a
33	MXI1	chr11:108092715-108094317	Hela-S3	cervix:	n/a	n/a
34	TAF1	chr11:108092940-108094297	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr11:108092978-108094561	PANC-1	pancreas:	n/a	n/a
36	MAX	chr11:108094067-108094659	K562	blood:	n/a	n/a
37	POLR2A	chr11:108092570-108094851	HepG2	liver:	n/a	n/a
38	STAT5A	chr11:108094163-108094713	K562	blood:	n/a	n/a
39	TCF7L2	chr11:108092600-108094421	PANC-1	pancreas:	n/a	chr11:108092640-108092649 chr11:108092636-108092652 chr11:108094194-108094208 chr11:108094193-108094209 chr11:108094193-108094209 chr11:108092636-108092652
40	POLR2A	chr11:108092734-108094923	GM12878	blood:	n/a	n/a
41	RCOR1	chr11:108093078-108094292	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:108092881-108094970	NB4	blood:	n/a	n/a
43	USF1	chr11:108094270-108094579	K562	blood:	n/a	n/a
44	NRF1	chr11:108092650-108094424	SK-N-SH	brain:	n/a	chr11:108093618-108093629 chr11:108093615-108093629 chr11:108093693-108093704 chr11:108093694-108093705
45	POLR2A	chr11:108092947-108094286	HepG2	liver:	n/a	n/a
46	UBTF	chr11:108092513-108094675	K562	blood:	n/a	n/a
47	GTF2F1	chr11:108092716-108094336	Hela-S3	cervix:	n/a	n/a
48	BCLAF1	chr11:108093030-108095187	GM12878	blood:	n/a	chr11:108093325-108093333 chr11:108093919-108093928 chr11:108093932-108093945 chr11:108093779-108093788 chr11:108093829-108093842 chr11:108093479-108093488
49	POLR2A	chr11:108092516-108095295	GM19099	blood:	n/a	n/a
50	POLR2A	chr11:108092997-108094676	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:108092115..108094604-chr11:108367755..108370100,3	K562	blood:
2	chr11:108093199..108095517-chr11:108534185..108536757,4	K562	blood:
3	chr11:108091790..108094967-chr11:108462852..108466169,3	K562	blood:
4	chr11:108092760..108095657-chr11:108096566..108100675,5	MCF-7	breast:
5	chr11:107992282..107994125-chr11:108092449..108094486,3	K562	blood:
6	chr11:108092141..108094808-chr11:108335621..108340680,5	K562	blood:
7	chr11:108092327..108094549-chr11:108338651..108340680,2	K562	blood:
8	chr11:108092600..108095376-chr11:108462934..108465266,2	MCF-7	breast:
9	chr11:108093199..108095517-chr11:108534185..108536757,3	K562	blood:

Variant related genes	Relation type
ATM	TF binding region
NPAT	TF binding region
ENSG00000166323	Chromatin interaction
ENSG00000178202	Chromatin interaction
ENSG00000075239	Chromatin interaction
ENSG00000221607	Chromatin interaction
ENSG00000255467	Chromatin interaction
ENSG00000206967	Chromatin interaction
ENSG00000110723	Chromatin interaction
ENSG00000178105	Chromatin interaction

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

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

rs_ID	r²[population]
rs1801516	0.86[ASN][1000 genomes]
rs3092991	0.86[ASN][1000 genomes]
rs3092993	0.86[ASN][1000 genomes]
rs4753835	0.86[ASN][1000 genomes]
rs4988023	0.86[ASN][1000 genomes]
rs55949629	0.86[ASN][1000 genomes]
rs55985317	0.86[ASN][1000 genomes]
rs72992163	0.86[ASN][1000 genomes]
rs73008229	0.86[ASN][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	chr11:108091000-108097400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:108091200-108096200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:108091400-108094400	Active TSS	K562	blood
6	chr11:108091600-108094400	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr11:108091600-108094400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr11:108091600-108094400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:108091600-108094600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:108091600-108094800	Active TSS	Hela-S3	cervix
11	chr11:108091600-108094800	Active TSS	NHDF-Ad	bronchial
12	chr11:108091600-108095400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:108091600-108095600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:108091800-108094400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:108091800-108094400	Active TSS	Fetal Intestine Large	intestine
16	chr11:108091800-108094400	Active TSS	Fetal Kidney	kidney
17	chr11:108091800-108094400	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr11:108091800-108094400	Active TSS	NHLF	lung
19	chr11:108091800-108094600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:108091800-108094600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:108091800-108094600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:108091800-108094600	Active TSS	HSMMtube	muscle
23	chr11:108091800-108094800	Active TSS	Lung	lung
24	chr11:108091800-108095000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:108091800-108095000	Active TSS	Colonic Mucosa	Colon
26	chr11:108091800-108095000	Active TSS	Left Ventricle	heart
27	chr11:108091800-108095000	Active TSS	GM12878-XiMat	blood
28	chr11:108091800-108095200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:108091800-108095400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr11:108091800-108096200	Active TSS	Primary T cells fromperipheralblood	blood
31	chr11:108091800-108096200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:108091800-108097000	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr11:108091800-108097000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr11:108091800-108098200	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr11:108092000-108094400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:108092000-108094400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr11:108092000-108094400	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr11:108092000-108094400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:108092000-108094400	Active TSS	HSMM	muscle
40	chr11:108092000-108094400	Active TSS	NHEK	skin
41	chr11:108092000-108094600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:108092000-108094600	Active TSS	Fetal Intestine Small	intestine
43	chr11:108092000-108094600	Active TSS	Fetal Stomach	stomach
44	chr11:108092000-108094800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:108092000-108094800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:108092000-108094800	Active TSS	HMEC	breast
47	chr11:108092000-108095000	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:108092000-108095000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:108092000-108095000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:108092000-108095000	Active TSS	Ovary	ovary

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