Variant report

Variant	rs2690073
Chromosome Location	chr6:25264164-25264165
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	JUND	chr6:25263638-25264319	SK-N-SH	brain:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
2	EP300	chr6:25263870-25264269	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:25263823-25264210	H1-neurons	neurons:	n/a	n/a
4	TEAD4	chr6:25263741-25264350	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr6:25263762-25264346	SK-N-SH	brain:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
6	GATA3	chr6:25263610-25264423	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr6:25263704-25264441	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr6:25263650-25264382	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr6:25263700-25264334	SK-N-SH	brain:	n/a	n/a
10	MAFK	chr6:25263848-25264218	Hela-S3	cervix:	n/a	n/a
11	FOSL2	chr6:25263847-25264236	A549	lung:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
12	FOSL2	chr6:25263764-25264191	SK-N-SH	brain:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
13	POLR2A	chr6:25263753-25264241	SK-N-SH	brain:	n/a	n/a
14	CEBPB	chr6:25263851-25264227	Hela-S3	cervix:	n/a	n/a
15	PBX3	chr6:25263789-25264315	SK-N-SH	brain:	n/a	n/a
16	EP300	chr6:25263785-25264203	SK-N-SH_RA	brain:	n/a	n/a
17	STAT3	chr6:25263937-25264206	MCF10A-Er-Src	breast:	n/a	n/a
18	PBX3	chr6:25263641-25264354	SK-N-SH	brain:	n/a	n/a
19	NFIC	chr6:25263712-25264278	SK-N-SH	brain:	n/a	n/a
20	TEAD4	chr6:25263741-25264220	SK-N-SH	brain:	n/a	n/a
21	RXRA	chr6:25263733-25264356	SK-N-SH	brain:	n/a	n/a
22	EP300	chr6:25263732-25264303	SK-N-SH	brain:	n/a	n/a
23	MAX	chr6:25263818-25264240	SK-N-SH	brain:	n/a	chr6:25263983-25263992
24	JUND	chr6:25263764-25264327	SK-N-SH	brain:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
25	JUND	chr6:25263839-25264240	Hela-S3	cervix:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
26	RFX5	chr6:25263847-25264240	Hela-S3	cervix:	n/a	n/a
27	FOS	chr6:25263818-25264173	MCF10A-Er-Src	breast:	n/a	chr6:25263983-25263991 chr6:25263981-25263993
28	JUND	chr6:25263686-25264438	SK-N-SH	brain:	n/a	chr6:25263983-25263991 chr6:25263981-25263993

Variant related genes	Relation type
ENSG00000235733	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1810471	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs1815097	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1880270	1.00[EUR][1000 genomes]
rs2328862	1.00[EUR][1000 genomes]
rs2690043	0.80[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690044	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690045	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690051	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690055	1.00[AMR][1000 genomes]
rs2690057	0.85[AMR][1000 genomes]
rs2690058	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690062	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2690066	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690069	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690075	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690076	1.00[EUR][1000 genomes]
rs2690102	0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2690116	1.00[EUR][1000 genomes]
rs2744252	0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744253	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744255	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744259	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744260	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744262	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744263	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744266	0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744284	1.00[AMR][1000 genomes]
rs2744285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744286	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2744291	1.00[EUR][1000 genomes]
rs2744292	1.00[EUR][1000 genomes]
rs34935689	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs940405	0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1025694	chr6:25136860-25309450	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1020774	chr6:25154152-25285679	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv538161	chr6:25154152-25285679	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv883483	chr6:25200842-25272435	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv883484	chr6:25237288-25303100	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv883485	chr6:25259137-25437986	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv883486	chr6:25260434-25422369	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv970080	chr6:25260590-25265244	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25262600-25264200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:25263600-25264600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:25263600-25264600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:25263600-25264600	Enhancers	Hela-S3	cervix
5	chr6:25263800-25264200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:25263800-25264400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:25263800-25264400	Enhancers	NHEK	skin
8	chr6:25263800-25264600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:25263800-25264600	Enhancers	Osteobl	bone
10	chr6:25263800-25264800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:25264000-25264600	Enhancers	HSMM	muscle
12	chr6:25264000-25264600	Enhancers	NHLF	lung
13	chr6:25264000-25264800	Enhancers	NHDF-Ad	bronchial

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