Variant report

Variant	rs17095376
Chromosome Location	chr1:74929486-74929487
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	BCL11A	chr1:74929185-74929684	GM12878	blood:	n/a	n/a
2	ATF2	chr1:74929255-74929663	GM12878	blood:	n/a	n/a
3	BATF	chr1:74929254-74929656	GM12878	blood:	n/a	chr1:74929478-74929489
4	MYC	chr1:74929313-74929984	MCF10A-Er-Src	breast:	n/a	n/a
5	IRF4	chr1:74929260-74929697	GM12878	blood:	n/a	n/a
6	E2F4	chr1:74929176-74929592	MCF10A-Er-Src	breast:	n/a	chr1:74929336-74929348 chr1:74929337-74929351
7	EP300	chr1:74929318-74929651	GM12878	blood:	n/a	chr1:74929482-74929491
8	STAT3	chr1:74929289-74930096	MCF10A-Er-Src	breast:	n/a	chr1:74929481-74929490 chr1:74929930-74929938
9	EP300	chr1:74929202-74929626	GM12878	blood:	n/a	chr1:74929248-74929257 chr1:74929244-74929258 chr1:74929482-74929491
10	STAT3	chr1:74929260-74930015	MCF10A-Er-Src	breast:	n/a	chr1:74929481-74929490 chr1:74929930-74929938
11	EBF1	chr1:74929099-74929617	GM12878	blood:	n/a	n/a
12	FOS	chr1:74929254-74930005	MCF10A-Er-Src	breast:	n/a	chr1:74929480-74929492 chr1:74929481-74929491 chr1:74929535-74929545 chr1:74929482-74929491 chr1:74929535-74929545 chr1:74929483-74929494 chr1:74929455-74929467 chr1:74929482-74929489 chr1:74929481-74929490
13	STAT3	chr1:74929295-74929664	MCF10A-Er-Src	breast:	n/a	chr1:74929481-74929490
14	BATF	chr1:74929264-74929606	GM12878	blood:	n/a	chr1:74929478-74929489
15	CEBPB	chr1:74929299-74930127	IMR90	lung:	n/a	chr1:74929930-74929941 chr1:74929928-74929941 chr1:74929928-74929941 chr1:74929930-74929939 chr1:74929928-74929939
16	FOS	chr1:74929280-74930010	MCF10A-Er-Src	breast:	n/a	chr1:74929480-74929492 chr1:74929481-74929491 chr1:74929535-74929545 chr1:74929482-74929491 chr1:74929535-74929545 chr1:74929483-74929494 chr1:74929455-74929467 chr1:74929482-74929489 chr1:74929481-74929490
17	FOS	chr1:74929280-74930150	MCF10A-Er-Src	breast:	n/a	chr1:74929480-74929492 chr1:74929481-74929491 chr1:74929535-74929545 chr1:74929482-74929491 chr1:74929535-74929545 chr1:74929483-74929494 chr1:74929455-74929467 chr1:74929482-74929489 chr1:74929481-74929490
18	FOXM1	chr1:74929294-74929667	GM12878	blood:	n/a	n/a
19	FOS	chr1:74929271-74929978	MCF10A-Er-Src	breast:	n/a	chr1:74929480-74929492 chr1:74929481-74929491 chr1:74929535-74929545 chr1:74929482-74929491 chr1:74929535-74929545 chr1:74929483-74929494 chr1:74929455-74929467 chr1:74929482-74929489 chr1:74929481-74929490
20	NFIC	chr1:74929212-74929672	GM12878	blood:	n/a	n/a
21	MYC	chr1:74929379-74929737	MCF10A-Er-Src	breast:	n/a	n/a
22	CEBPB	chr1:74929306-74930122	Hela-S3	cervix:	n/a	chr1:74929930-74929941 chr1:74929928-74929941 chr1:74929928-74929941 chr1:74929930-74929939 chr1:74929928-74929939
23	BCL11A	chr1:74929322-74929595	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:74929475-74929795	MCF10A-Er-Src	breast:	n/a	n/a
25	BHLHE40	chr1:74929307-74929660	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000233894	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10493542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10493543	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs17095380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17095385	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17095421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17095449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17095451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17095455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17095460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17095463	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17095465	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17095473	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17095482	1.00[JPT][hapmap]
rs17095483	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1998770	0.85[ASN][1000 genomes]
rs1998771	0.85[ASN][1000 genomes]
rs34871290	0.85[ASN][1000 genomes]
rs3737564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3819944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4372202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs45519034	0.95[ASN][1000 genomes]
rs45545234	0.85[ASN][1000 genomes]
rs61140856	0.95[ASN][1000 genomes]
rs6701139	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6704493	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs72969868	0.95[ASN][1000 genomes]
rs72971710	0.95[ASN][1000 genomes]
rs72977490	0.85[ASN][1000 genomes]
rs9326113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9326114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9727476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9729683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[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	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
5	nsv1007414	chr1:74726454-74976335	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv535002	chr1:74726454-74976335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1002903	chr1:74831209-74993866	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr1:74928000-74931000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr1:74928000-74932800	Weak transcription	Fetal Heart	heart
3	chr1:74928200-74930800	Weak transcription	Right Ventricle	heart
4	chr1:74928800-74930000	Enhancers	NHDF-Ad	bronchial
5	chr1:74928800-74930200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:74929000-74929800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:74929000-74929800	Enhancers	NH-A	brain
8	chr1:74929200-74929600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:74929200-74929800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:74929200-74929800	Enhancers	Adipose Nuclei	Adipose
11	chr1:74929200-74930000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:74929200-74930800	Weak transcription	Pancreas	Pancrea
13	chr1:74929200-74936400	Weak transcription	Left Ventricle	heart

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