Variant report

Variant	rs8086538
Chromosome Location	chr18:43904534-43904535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:50 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr18:43904500-43904888	MCF10A-Er-Src	breast:	n/a	n/a
2	HCFC1	chr18:43904124-43905345	Hela-S3	cervix:	n/a	n/a
3	ELK4	chr18:43904388-43904916	HEK293	kidney:	n/a	n/a
4	SRF	chr18:43904415-43904981	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr18:43904403-43904972	Hela-S3	cervix:	n/a	n/a
6	TAF1	chr18:43904519-43904868	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr18:43904362-43904854	HL-60	blood:	n/a	n/a
8	POLR2A	chr18:43904472-43904843	Hela-S3	cervix:	n/a	n/a
9	USF2	chr18:43904087-43905051	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr18:43904493-43904840	MCF10A-Er-Src	breast:	n/a	n/a
11	USF1	chr18:43904289-43904969	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr18:43904462-43905059	ECC-1	luminal epithelium:	n/a	n/a
13	MYC	chr18:43904355-43904965	NB4	blood:	n/a	chr18:43904400-43904409
14	POLR2A	chr18:43904496-43904789	HCT-116	colon:	n/a	n/a
15	SRF	chr18:43904454-43905012	MCF-7	breast:	n/a	n/a
16	ELF1	chr18:43904359-43905057	HCT-116	colon:	n/a	chr18:43904714-43904727
17	MAX	chr18:43904236-43905037	NB4	blood:	n/a	chr18:43904400-43904409
18	POLR2A	chr18:43904491-43904864	Hela-S3	cervix:	n/a	n/a
19	ELK1	chr18:43904510-43904933	Hela-S3	cervix:	n/a	n/a
20	YY1	chr18:43904478-43904989	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr18:43904318-43904910	Hela-S3	cervix:	n/a	n/a
22	SPI1	chr18:43904010-43904992	HL-60	blood:	n/a	chr18:43904109-43904122 chr18:43904239-43904248
23	USF1	chr18:43904513-43905032	HCT-116	colon:	n/a	n/a
24	USF1	chr18:43904507-43904938	SK-N-SH	brain:	n/a	n/a
25	YY1	chr18:43904457-43905041	ECC-1	luminal epithelium:	n/a	n/a
26	MYC	chr18:43904470-43905078	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr18:43904508-43904947	MCF10A-Er-Src	breast:	n/a	n/a
28	YY1	chr18:43904523-43904970	SK-N-SH_RA	brain:	n/a	n/a
29	USF1	chr18:43904440-43905118	HCT-116	colon:	n/a	n/a
30	USF1	chr18:43904197-43904998	ECC-1	luminal epithelium:	n/a	n/a
31	STAT3	chr18:43904530-43904838	MCF10A-Er-Src	breast:	n/a	n/a
32	USF1	chr18:43904102-43905043	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr18:43904534-43904806	U87	brain:	n/a	n/a
34	POLR2A	chr18:43904395-43904881	SK-N-MC	brain:	n/a	n/a
35	HCFC1	chr18:43904500-43905132	K562	blood:	n/a	n/a
36	STAT3	chr18:43904466-43904902	MCF10A-Er-Src	breast:	n/a	n/a
37	SRF	chr18:43904346-43905120	HCT-116	colon:	n/a	n/a
38	ZNF143	chr18:43904500-43905047	Hela-S3	cervix:	n/a	n/a
39	USF1	chr18:43904193-43904562	H1-hESC	embryonic stem cell:	n/a	n/a
40	TBP	chr18:43904446-43904958	Hela-S3	cervix:	n/a	n/a
41	SRF	chr18:43904318-43905130	MCF-7	breast:	n/a	n/a
42	MAX	chr18:43904367-43904961	Hela-S3	cervix:	n/a	chr18:43904400-43904409
43	SRF	chr18:43904368-43905134	HCT-116	colon:	n/a	n/a
44	YY1	chr18:43904512-43905057	SK-N-SH_RA	brain:	n/a	n/a
45	NFYA	chr18:43904529-43904932	K562	blood:	n/a	n/a
46	SRF	chr18:43904277-43905020	ECC-1	luminal epithelium:	n/a	n/a
47	GTF2F1	chr18:43904293-43904945	Hela-S3	cervix:	n/a	n/a
48	USF2	chr18:43904324-43904849	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr18:43904409-43904808	Hela-S3	cervix:	n/a	n/a
50	ELF1	chr18:43904339-43905106	HCT-116	colon:	n/a	chr18:43904714-43904727

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43888531..43891437-chr18:43902755..43904881,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF165	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4890323	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6507696	0.81[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes]
rs8098098	0.81[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes]
rs9304332	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9952113	0.83[AMR][1000 genomes]
rs9964221	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43899800-43905000	Enhancers	HMEC	breast
2	chr18:43901200-43905600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:43902600-43905400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:43902800-43905000	Enhancers	NHEK	skin
5	chr18:43902800-43905800	Weak transcription	Esophagus	oesophagus
6	chr18:43902800-43906200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:43903200-43909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:43903200-43909800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:43903400-43904600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr18:43903600-43905000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr18:43903800-43904600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:43904000-43904800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:43904000-43904800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr18:43904000-43904800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr18:43904200-43904600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr18:43904200-43904600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr18:43904200-43904600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr18:43904200-43904600	Flanking Active TSS	Hela-S3	cervix
19	chr18:43904200-43904800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr18:43904200-43904800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:43904200-43904800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:43904200-43904800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr18:43904200-43904800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr18:43904200-43904800	Enhancers	Primary B cells from peripheral blood	blood
25	chr18:43904200-43904800	Enhancers	Fetal Heart	heart
26	chr18:43904200-43904800	Enhancers	Fetal Thymus	thymus
27	chr18:43904200-43904800	Flanking Active TSS	Dnd41	blood
28	chr18:43904200-43904800	Enhancers	K562	blood
29	chr18:43904200-43904800	Enhancers	NH-A	brain
30	chr18:43904200-43905000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:43904200-43905000	Enhancers	Lung	lung
32	chr18:43904400-43904600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:43904400-43904600	Enhancers	A549	lung
34	chr18:43904400-43904800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr18:43904400-43904800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:43904400-43904800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr18:43904400-43904800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr18:43904400-43904800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:43904400-43904800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr18:43904400-43904800	Enhancers	Fetal Kidney	kidney

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