Variant report

Variant	rs2377962
Chromosome Location	chr18:9101722-9101723
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	TCF12	chr18:9101611-9103380	A549	lung:	n/a	chr18:9102566-9102576
2	CREB1	chr18:9101600-9102186	K562	blood:	n/a	n/a
3	POLR2A	chr18:9101558-9103877	MCF10A-Er-Src	breast:	n/a	n/a
4	PML	chr18:9101692-9103415	GM12878	blood:	n/a	n/a
5	ELF1	chr18:9101671-9102051	K562	blood:	n/a	n/a
6	SPI1	chr18:9101633-9102826	HL-60	blood:	n/a	chr18:9101903-9101912 chr18:9101904-9101911
7	CEBPB	chr18:9101538-9101898	IMR90	lung:	n/a	n/a
8	HEY1	chr18:9101702-9103018	HepG2	liver:	n/a	chr18:9102817-9102832
9	POLR2A	chr18:9101541-9102919	HCT-116	colon:	n/a	n/a
10	GABPA	chr18:9101694-9102054	K562	blood:	n/a	n/a
11	POLR2A	chr18:9101701-9102910	HepG2	liver:	n/a	n/a
12	CREB1	chr18:9101642-9102126	HepG2	liver:	n/a	n/a
13	MAZ	chr18:9101695-9103982	IMR90	lung:	n/a	n/a
14	GABPA	chr18:9101662-9102171	A549	lung:	n/a	n/a
15	CEBPB	chr18:9101586-9101898	K562	blood:	n/a	n/a
16	CREB1	chr18:9101475-9102306	K562	blood:	n/a	n/a
17	FOS	chr18:9101654-9102028	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr18:9101713-9103331	K562	blood:	n/a	n/a
19	FOXA1	chr18:9101679-9102205	HepG2	liver:	n/a	n/a
20	ELF1	chr18:9101598-9102792	HCT-116	colon:	n/a	n/a
21	POLR2A	chr18:9101613-9104658	IMR90	lung:	n/a	n/a
22	ELF1	chr18:9101634-9102196	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr18:9101525-9104962	HepG2	liver:	n/a	n/a
24	FOSL2	chr18:9101636-9102088	A549	lung:	n/a	n/a
25	EP300	chr18:9101650-9102204	HepG2	liver:	n/a	chr18:9101903-9101912
26	FOS	chr18:9101695-9101923	MCF10A-Er-Src	breast:	n/a	n/a
27	ATF1	chr18:9101692-9102307	K562	blood:	n/a	n/a
28	PML	chr18:9101659-9102872	K562	blood:	n/a	n/a
29	POLR2A	chr18:9101705-9103450	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr18:9101696-9103955	HL-60	blood:	n/a	n/a
31	GABPA	chr18:9101591-9102845	SK-N-SH	brain:	n/a	chr18:9102574-9102583
32	REST	chr18:9101690-9102920	HL-60	blood:	n/a	chr18:9102810-9102823 chr18:9102250-9102270 chr18:9102516-9102529
33	RELA	chr18:9101713-9103167	GM19099	blood:	n/a	n/a
34	TEAD4	chr18:9101680-9104147	K562	blood:	n/a	n/a
35	CREB1	chr18:9101617-9102162	HepG2	liver:	n/a	n/a
36	JUN	chr18:9101690-9102808	K562	blood:	n/a	n/a
37	POLR2A	chr18:9101720-9102940	U87	brain:	n/a	n/a
38	NR2F2	chr18:9101615-9103164	K562	blood:	n/a	n/a
39	POLR2A	chr18:9101691-9103687	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr18:9101574-9102828	SK-N-SH	brain:	n/a	chr18:9102574-9102583
41	MXI1	chr18:9101518-9104225	IMR90	lung:	n/a	n/a
42	STAT3	chr18:9101721-9102730	MCF10A-Er-Src	breast:	n/a	chr18:9101906-9101913 chr18:9102528-9102540
43	GABPA	chr18:9101613-9102266	HL-60	blood:	n/a	n/a
44	POLR2A	chr18:9101640-9103077	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr18:9101636-9102945	HUVEC	blood vessel:	n/a	n/a
46	CEBPB	chr18:9101621-9102007	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr18:9101555-9103143	HUVEC	blood vessel:	n/a	n/a
48	HCFC1	chr18:9101476-9104112	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr18:9101528-9102847	HL-60	blood:	n/a	chr18:9102574-9102583
50	POLR2A	chr18:9101616-9104645	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:226249272..226249832-chr18:9101582..9102167,2	Hela-S3	cervix:
2	chr15:45003579..45004232-chr18:9101371..9101879,2	NB4	blood:
3	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
4	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:
5	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
6	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
7	chr18:9101667..9102598-chr2:99224797..99225528,2	Hela-S3	cervix:
8	chr18:9100740..9102292-chr18:9126318..9129921,3	MCF-7	breast:
9	chr18:9018123..9019834-chr18:9100436..9102568,2	K562	blood:

Variant related genes	Relation type
ENSG00000265257	TF binding region
NDUFV2	TF binding region
ENSG00000183513	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000166710	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1046483	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs10502391	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12326829	1.00[CEU][hapmap]
rs12953401	1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1443597	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1443598	0.89[CEU][hapmap]
rs16954792	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs16954886	1.00[CEU][hapmap]
rs16954905	1.00[CEU][hapmap]
rs17413344	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17497377	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17498752	0.89[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs17498969	1.00[CEU][hapmap]
rs17499116	1.00[CEU][hapmap]
rs1899668	1.00[CEU][hapmap]
rs2120316	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2298548	1.00[CEU][hapmap]
rs3744822	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs4449017	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs5011606	1.00[CEU][hapmap]
rs57716132	0.86[EUR][1000 genomes]
rs59983698	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72935229	0.86[EUR][1000 genomes]
rs72935233	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72935236	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72935248	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72935249	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72935251	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72935253	0.86[EUR][1000 genomes]
rs72935258	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72935260	0.86[EUR][1000 genomes]
rs72935263	0.86[EUR][1000 genomes]
rs72935265	0.86[EUR][1000 genomes]
rs72935266	0.86[EUR][1000 genomes]
rs72935267	0.86[EUR][1000 genomes]
rs7506375	1.00[CEU][hapmap]
rs8098544	1.00[CEU][hapmap]
rs9675513	1.00[CEU][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9095600-9101800	Weak transcription	Psoas Muscle	Psoas
2	chr18:9096000-9101800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr18:9097400-9102000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:9097600-9101800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:9097600-9102000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr18:9098000-9101800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr18:9098000-9102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr18:9098200-9101800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr18:9098200-9102000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr18:9098200-9102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:9098800-9101800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr18:9100000-9101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:9100000-9101800	Weak transcription	Fetal Brain Female	brain
14	chr18:9101000-9102000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr18:9101200-9101800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr18:9101200-9101800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr18:9101400-9101800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:9101400-9101800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr18:9101400-9101800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr18:9101400-9101800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr18:9101400-9101800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr18:9101400-9101800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr18:9101400-9101800	Active TSS	Adipose Nuclei	Adipose
24	chr18:9101400-9101800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr18:9101400-9101800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr18:9101400-9101800	Enhancers	Fetal Brain Male	brain
27	chr18:9101400-9101800	Enhancers	Fetal Muscle Trunk	muscle
28	chr18:9101400-9101800	Flanking Active TSS	Placenta	Placenta
29	chr18:9101400-9101800	Enhancers	Fetal Thymus	thymus
30	chr18:9101400-9101800	Flanking Active TSS	HSMM	muscle
31	chr18:9101400-9101800	Enhancers	HSMMtube	muscle
32	chr18:9101400-9101800	Flanking Active TSS	K562	blood
33	chr18:9101400-9102000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr18:9101400-9102000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr18:9101400-9102000	Flanking Active TSS	Dnd41	blood
36	chr18:9101400-9102200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr18:9101400-9102200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:9101400-9102400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr18:9101400-9102400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr18:9101400-9102400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:9101400-9103600	Active TSS	Brain Angular Gyrus	brain
42	chr18:9101400-9103600	Active TSS	Hela-S3	cervix
43	chr18:9101400-9103800	Active TSS	Liver	Liver
44	chr18:9101400-9104000	Active TSS	GM12878-XiMat	blood
45	chr18:9101600-9101800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr18:9101600-9101800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr18:9101600-9101800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr18:9101600-9101800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr18:9101600-9101800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr18:9101600-9101800	Flanking Active TSS	Primary B cells from cord blood	blood

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