Variant report

Variant	rs9676057
Chromosome Location	chr18:11978577-11978578
allele	C/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	CEBPB	chr18:11977815-11978751	Hela-S3	cervix:	n/a	chr18:11977832-11977845

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11978568..11983192-chr18:11993805..11998306,5	MCF-7	breast:
2	chr18:11977841..11980802-chr18:11983345..11984923,2	MCF-7	breast:

Variant related genes	Relation type
IMPA2	TF binding region
ENSG00000266955	Chromatin interaction

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

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

rs_ID	r²[population]
rs11080536	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4796942	0.81[ASN][1000 genomes]
rs4797606	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57967783	0.81[EUR][1000 genomes]
rs72871691	0.82[AMR][1000 genomes];0.82[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:42 , 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	chr18:11973000-11979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:11973000-11979800	Weak transcription	Primary B cells from cord blood	blood
4	chr18:11973800-11979000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:11973800-11980000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr18:11974000-11979000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr18:11974000-11979000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr18:11974000-11979000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr18:11975000-11979000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr18:11975000-11979200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr18:11975000-11979200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:11975200-11978600	Weak transcription	Fetal Lung	lung
13	chr18:11976600-11980200	Enhancers	Placenta	Placenta
14	chr18:11976800-11979800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr18:11977000-11979000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:11977000-11979000	Weak transcription	K562	blood
17	chr18:11977000-11979800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:11977000-11979800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:11977000-11979800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr18:11977000-11979800	Enhancers	Hela-S3	cervix
21	chr18:11977000-11980000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:11977000-11980000	Weak transcription	Fetal Kidney	kidney
23	chr18:11977000-11980000	Weak transcription	HSMM	muscle
24	chr18:11977000-11980200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr18:11977200-11979000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr18:11977200-11979000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr18:11977200-11979000	Weak transcription	Fetal Stomach	stomach
28	chr18:11977200-11979600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr18:11977200-11980000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr18:11977200-11980000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:11977400-11979200	Weak transcription	HepG2	liver
32	chr18:11977400-11979800	Weak transcription	Fetal Muscle Leg	muscle
33	chr18:11977400-11980200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr18:11977600-11980000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:11977800-11978800	Weak transcription	A549	lung
36	chr18:11977800-11979400	Weak transcription	NHEK	skin
37	chr18:11977800-11979800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr18:11977800-11979800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr18:11977800-11979800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr18:11977800-11979800	Weak transcription	NHDF-Ad	bronchial
41	chr18:11977800-11980000	Weak transcription	Osteobl	bone
42	chr18:11978000-11979800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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