Variant report

Variant	rs11080536
Chromosome Location	chr18:11976632-11976633
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	GTF3C2	chr18:11976188-11977905	Hela-S3	cervix:	n/a	n/a
2	USF2	chr18:11976592-11977184	Hela-S3	cervix:	n/a	chr18:11976996-11977007
3	GTF2F1	chr18:11976515-11977260	Hela-S3	cervix:	n/a	n/a
4	NR3C1	chr18:11976568-11977044	A549	lung:	n/a	chr18:11976811-11976820
5	POLR2A	chr18:11976555-11977194	Hela-S3	cervix:	n/a	n/a
6	MAX	chr18:11976461-11977292	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr18:11976527-11977324	Hela-S3	cervix:	n/a	n/a
8	KAP1	chr18:11976474-11977141	U2OS	brain:	n/a	n/a
9	MAX	chr18:11976491-11977354	Hela-S3	cervix:	n/a	n/a
10	MYC	chr18:11976460-11977259	Hela-S3	cervix:	n/a	n/a
11	SMC3	chr18:11976593-11977259	Hela-S3	cervix:	n/a	n/a
12	RPC155	chr18:11976154-11977433	Hela-S3	cervix:	n/a	n/a
13	STAT3	chr18:11976604-11977262	Hela-S3	cervix:	n/a	chr18:11976928-11976940
14	TBP	chr18:11976620-11977268	Hela-S3	cervix:	n/a	n/a
15	NR3C1	chr18:11976532-11977194	A549	lung:	n/a	chr18:11976811-11976820
16	RFX5	chr18:11976580-11977328	Hela-S3	cervix:	n/a	n/a
17	TBP	chr18:11976557-11976755	H1-hESC	embryonic stem cell:	n/a	n/a
18	NR3C1	chr18:11976631-11976969	A549	lung:	n/a	chr18:11976811-11976820
19	NR3C1	chr18:11976520-11977077	A549	lung:	n/a	chr18:11976811-11976820
20	TCF7L2	chr18:11976520-11977278	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr18:11976600-11976750	HepG2	liver:	n/a	n/a
22	RCOR1	chr18:11976470-11977391	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:11972504..11978571-chr18:11978817..11983017,10	K562	blood:
2	chr18:11968537..11977808-chr18:11979434..11985075,12	MCF-7	breast:
3	chr11:62608590..62609137-chr18:11976275..11977248,2	Hela-S3	cervix:

Variant related genes	Relation type
IMPA2	TF binding region
ENSG00000141401	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4796942	0.83[ASN][1000 genomes]
rs4797606	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57967783	0.83[EUR][1000 genomes]
rs72871691	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676057	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv1063339	chr18:11909588-11979264	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11964400-11980400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:11971000-11977000	Weak transcription	A549	lung
3	chr18:11973000-11979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:11973000-11979800	Weak transcription	Primary B cells from cord blood	blood
5	chr18:11973800-11979000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:11973800-11980000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr18:11974000-11979000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr18:11974000-11979000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr18:11974000-11979000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr18:11975000-11979000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr18:11975000-11979200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:11975000-11979200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr18:11975200-11978600	Weak transcription	Fetal Lung	lung
14	chr18:11976400-11977000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:11976400-11977000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:11976400-11977000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr18:11976400-11977200	Enhancers	Fetal Muscle Trunk	muscle
18	chr18:11976400-11977200	Enhancers	Fetal Stomach	stomach
19	chr18:11976600-11976800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr18:11976600-11977000	Flanking Active TSS	Hela-S3	cervix
21	chr18:11976600-11977000	Enhancers	HSMM	muscle
22	chr18:11976600-11977000	Enhancers	K562	blood
23	chr18:11976600-11977200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr18:11976600-11977200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:11976600-11977400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:11976600-11977400	Enhancers	Fetal Muscle Leg	muscle
27	chr18:11976600-11977400	Enhancers	HepG2	liver
28	chr18:11976600-11977600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:11976600-11977800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:11976600-11977800	Enhancers	NHEK	skin
31	chr18:11976600-11978000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:11976600-11980200	Enhancers	Placenta	Placenta

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