Variant report

Variant	rs1693521
Chromosome Location	chr15:52824807-52824808
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	GATA3	chr15:52824573-52824907	T-47D	breast:	n/a	n/a
2	GATA3	chr15:52824594-52824902	T-47D	breast:	n/a	n/a
3	SPI1	chr15:52824638-52825089	HL-60	blood:	n/a	chr15:52824926-52824939

No.	Distal block	Cell Line	Cell type
1	chr15:52822627..52825324-chr15:52833612..52835175,2	K562	blood:
2	chr12:120729695..120732278-chr15:52824709..52826497,2	MCF-7	breast:
3	chr15:52785155..52787650-chr15:52822285..52825077,2	MCF-7	breast:

Variant related genes	Relation type
MYO5A	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10444827	1.00[AFR][1000 genomes]
rs11637651	1.00[AFR][1000 genomes]
rs11638118	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11638675	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs1534201	0.91[EUR][1000 genomes]
rs1615028	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs1626180	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs1632403	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1669859	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1669865	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1669868	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1669871	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1669875	1.00[AFR][1000 genomes]
rs1669876	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1693500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693511	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs1693513	0.98[ASN][1000 genomes]
rs1693520	0.95[ASN][1000 genomes]
rs1724584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1724586	1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs1724613	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs1724614	0.95[ASN][1000 genomes]
rs1724615	0.95[ASN][1000 genomes]
rs1724617	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1724640	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1917972	1.00[CHB][hapmap]
rs1967624	0.84[EUR][1000 genomes]
rs2444012	0.82[EUR][1000 genomes]
rs2444014	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2444017	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2453983	0.95[ASN][1000 genomes]
rs2453984	0.84[GIH][hapmap]
rs2462855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2693459	1.00[AFR][1000 genomes]
rs2693463	0.95[ASN][1000 genomes]
rs2693467	1.00[CHB][hapmap]
rs4238392	1.00[ASN][1000 genomes]
rs59277991	1.00[AFR][1000 genomes]
rs62016004	1.00[AFR][1000 genomes]
rs7178682	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8035295	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap]

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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1047775	chr15:52822050-52912228	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52822200-52839600	Weak transcription	Right Atrium	heart
2	chr15:52822600-52827200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:52822800-52838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:52824400-52825400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:52824800-52825000	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:52824800-52825000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:52824800-52825000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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