Variant report

Variant	rs2672262
Chromosome Location	chr8:19120321-19120322
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	JUND	chr8:19120016-19120525	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr8:19119900-19120459	U87	brain:	n/a	n/a
3	CTCF	chr8:19120180-19120330	SAEC	small airway:	n/a	n/a
4	ELK1	chr8:19120301-19120338	Hela-S3	cervix:	n/a	n/a
5	FOS	chr8:19120054-19120446	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr8:19120320-19120470	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr8:19120180-19120330	HAc	cerebellar:	n/a	n/a
8	STAT3	chr8:19120262-19120427	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr8:19120023-19120408	U87	brain:	n/a	n/a
10	FOSL2	chr8:19120025-19120547	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr8:19120277-19120448	Gliobla	brain:	n/a	n/a
12	FOSL2	chr8:19119982-19120635	A549	lung:	n/a	n/a
13	CTCF	chr8:19120200-19120350	HMF	breast:	n/a	n/a
14	CTCF	chr8:19120180-19120330	HCFaa	heart:	n/a	n/a
15	FOS	chr8:19119997-19120426	MCF10A-Er-Src	breast:	n/a	n/a
16	RAD21	chr8:19120127-19120363	IMR90	lung:	n/a	n/a
17	STAT3	chr8:19120214-19120329	MCF10A-Er-Src	breast:	n/a	n/a
18	FOSL2	chr8:19120054-19120386	A549	lung:	n/a	n/a
19	MYC	chr8:19120171-19120363	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr8:19120098-19120362	SK-N-SH	brain:	n/a	n/a
21	FOS	chr8:19120027-19120461	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr8:19120088-19120410	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19120168..19121747-chr8:19134338..19135929,2	K562	blood:

Variant related genes	Relation type
ENSG00000253557	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10088667	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs10091480	0.83[JPT][hapmap]
rs10091481	0.88[JPT][hapmap]
rs10092550	0.83[JPT][hapmap]
rs10098785	0.85[AMR][1000 genomes]
rs10105631	0.83[JPT][hapmap]
rs1193287	0.91[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1193288	0.90[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1193289	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1193290	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs1193292	0.83[JPT][hapmap]
rs1193293	0.83[JPT][hapmap]
rs1193294	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs1193296	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1193305	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1193308	0.90[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1193309	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1193329	0.81[AMR][1000 genomes]
rs13261970	0.91[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1473940	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs1514706	0.82[AMR][1000 genomes]
rs1915406	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1967513	0.83[EUR][1000 genomes]
rs2139762	0.82[EUR][1000 genomes]
rs2244965	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2244976	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2249278	0.83[JPT][hapmap]
rs2672225	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2672226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2672227	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2672231	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2672254	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2672260	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2672264	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2683280	0.83[JPT][hapmap]
rs2683311	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2683312	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2683313	0.87[CEU][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2683314	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2683316	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2683319	0.82[EUR][1000 genomes]
rs2943422	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2943430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2947260	0.83[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2947261	0.86[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes]
rs2947262	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6586820	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7814080	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs951674	0.82[AMR][1000 genomes]
rs951675	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv917232	chr8:18585309-19208665	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv890615	chr8:18989735-19181921	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv890616	chr8:18989735-19197809	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv1033297	chr8:19108472-19150023	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1034119	chr8:19115084-19164833	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv465599	chr8:19115136-19159082	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv610747	chr8:19115136-19159082	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv465600	chr8:19116030-19156100	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv610748	chr8:19116030-19156100	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv610749	chr8:19116030-19160915	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19119000-19121800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19119000-19122000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:19119600-19120400	Enhancers	Ovary	ovary
4	chr8:19119600-19120400	Enhancers	A549	lung
5	chr8:19119600-19120400	Enhancers	Osteobl	bone
6	chr8:19119600-19120600	Enhancers	NH-A	brain
7	chr8:19119600-19123800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:19119600-19124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:19119800-19121000	Weak transcription	HepG2	liver

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