Variant report

Variant	rs57092565
Chromosome Location	chr8:62692824-62692825
allele	A/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	PRDM1	chr8:62692744-62693238	Hela-S3	cervix:	n/a	chr8:62692900-62692914
2	EBF1	chr8:62692617-62693386	GM12878	blood:	n/a	n/a
3	ATF2	chr8:62692712-62693204	GM12878	blood:	n/a	n/a
4	BATF	chr8:62692813-62693451	GM12878	blood:	n/a	chr8:62692998-62693007
5	NFIC	chr8:62692421-62692990	SK-N-SH	brain:	n/a	n/a
6	ZNF143	chr8:62692765-62693386	GM12878	blood:	n/a	n/a
7	CEBPB	chr8:62692687-62693172	Hela-S3	cervix:	n/a	chr8:62692977-62692990
8	BATF	chr8:62692823-62693294	GM12878	blood:	n/a	chr8:62692998-62693007
9	CEBPB	chr8:62692671-62693244	A549	lung:	n/a	chr8:62692977-62692990
10	EP300	chr8:62692492-62693120	SK-N-SH_RA	brain:	n/a	n/a
11	TCF12	chr8:62692415-62693262	A549	lung:	n/a	n/a
12	EP300	chr8:62692780-62693205	Hela-S3	cervix:	n/a	n/a
13	RELA	chr8:62692715-62693410	GM12878	blood:	n/a	n/a
14	TCF7L2	chr8:62692204-62693113	Hela-S3	cervix:	n/a	n/a
15	EP300	chr8:62692513-62693193	A549	lung:	n/a	n/a
16	GATA3	chr8:62692348-62693115	SK-N-SH	brain:	n/a	n/a
17	RUNX3	chr8:62692657-62693545	GM12878	blood:	n/a	n/a
18	PBX3	chr8:62692386-62693075	SK-N-SH	brain:	n/a	n/a
19	RCOR1	chr8:62692701-62693436	GM12878	blood:	n/a	n/a
20	EBF1	chr8:62692643-62692859	GM12878	blood:	n/a	n/a
21	RUNX3	chr8:62692628-62693469	GM12878	blood:	n/a	n/a
22	STAT3	chr8:62692816-62693087	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62690850..62692862-chr8:62695568..62697831,2	MCF-7	breast:
2	chr8:62675193..62676843-chr8:62690905..62693820,2	K562	blood:
3	chr8:62688734..62690854-chr8:62691636..62693377,2	K562	blood:
4	chr8:62671674..62674406-chr8:62692816..62694496,2	K562	blood:
5	chr8:62691275..62692962-chr8:62695381..62698338,2	K562	blood:
6	chr8:62641475..62643115-chr8:62692238..62694630,2	K562	blood:

Variant related genes	Relation type
ENSG00000254119	TF binding region
ENSG00000254119	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10504336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1495006	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927875	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927904	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16927910	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17542259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015490	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55839820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55901448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57717707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv968546	chr8:62689202-62696074	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62685600-62696200	Weak transcription	Pancreas	Pancrea
2	chr8:62690200-62698000	Weak transcription	K562	blood
3	chr8:62690400-62693000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:62690400-62693200	Flanking Active TSS	A549	lung
5	chr8:62690600-62702000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:62691400-62700200	Enhancers	Liver	Liver
7	chr8:62691600-62698200	Weak transcription	NHDF-Ad	bronchial
8	chr8:62692200-62697800	Enhancers	HepG2	liver
9	chr8:62692400-62693000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:62692400-62693200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:62692400-62693200	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:62692400-62693400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:62692400-62693800	Enhancers	Primary B cells from cord blood	blood
14	chr8:62692600-62693000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:62692600-62693000	Enhancers	Fetal Lung	lung
16	chr8:62692600-62693000	Flanking Active TSS	Hela-S3	cervix
17	chr8:62692600-62693200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:62692600-62693200	Enhancers	Osteobl	bone
19	chr8:62692600-62693800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:62692600-62695400	Weak transcription	Stomach Mucosa	stomach
21	chr8:62692800-62702200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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