Variant report

Variant	rs758854
Chromosome Location	chr17:15845451-15845452
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	MAZ	chr17:15845132-15845558	IMR90	lung:	n/a	n/a
2	SMC3	chr17:15845254-15845557	Hela-S3	cervix:	n/a	chr17:15845297-15845307
3	MYC	chr17:15845352-15845935	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr17:15845106-15846073	HUVEC	blood vessel:	n/a	chr17:15845280-15845292 chr17:15845282-15845290
5	USF2	chr17:15845447-15845558	HepG2	liver:	n/a	n/a
6	FOS	chr17:15845118-15845458	MCF10A-Er-Src	breast:	n/a	chr17:15845280-15845292 chr17:15845282-15845290
7	POLR2A	chr17:15845236-15845492	Hela-S3	cervix:	n/a	n/a
8	FOS	chr17:15845101-15845454	MCF10A-Er-Src	breast:	n/a	chr17:15845280-15845292 chr17:15845282-15845290
9	ZKSCAN1	chr17:15845273-15845541	Hela-S3	cervix:	n/a	n/a
10	MAX	chr17:15845270-15845739	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr17:15845436-15845496	GM13976	blood:	n/a	n/a
12	MAZ	chr17:15845317-15845513	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15841943..15846200-chr17:15846723..15848699,3	MCF-7	breast:

Variant related genes	Relation type
ADORA2B	TF binding region
ENSG00000170425	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1102644	1.00[EUR][1000 genomes]
rs11868331	1.00[EUR][1000 genomes]
rs11868613	1.00[EUR][1000 genomes]
rs11869184	1.00[EUR][1000 genomes]
rs11872072	1.00[EUR][1000 genomes]
rs1622059	1.00[EUR][1000 genomes]
rs1622062	1.00[EUR][1000 genomes]
rs1797463	1.00[EUR][1000 genomes]
rs2058366	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2482988	1.00[EUR][1000 genomes]
rs2535600	1.00[EUR][1000 genomes]
rs2535602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2535603	1.00[ASN][1000 genomes]
rs2535604	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2535607	0.92[ASN][1000 genomes]
rs2535608	0.92[ASN][1000 genomes]
rs2535610	0.92[ASN][1000 genomes]
rs2779190	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2779191	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2779192	1.00[ASN][1000 genomes]
rs2779193	1.00[ASN][1000 genomes]
rs2779194	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2779195	1.00[ASN][1000 genomes]
rs2779196	1.00[ASN][1000 genomes]
rs2779197	1.00[ASN][1000 genomes]
rs2779199	0.92[ASN][1000 genomes]
rs2779203	1.00[EUR][1000 genomes]
rs3859259	1.00[EUR][1000 genomes]
rs4791645	1.00[EUR][1000 genomes]
rs4791646	1.00[EUR][1000 genomes]
rs4791651	1.00[EUR][1000 genomes]
rs4791654	1.00[EUR][1000 genomes]
rs4792695	1.00[EUR][1000 genomes]
rs4792696	1.00[EUR][1000 genomes]
rs4792697	1.00[EUR][1000 genomes]
rs4792698	1.00[EUR][1000 genomes]
rs484520	1.00[EUR][1000 genomes]
rs500752	1.00[EUR][1000 genomes]
rs513190	1.00[EUR][1000 genomes]
rs708592	1.00[EUR][1000 genomes]
rs7209188	1.00[EUR][1000 genomes]
rs7213464	1.00[ASN][1000 genomes]
rs757623	1.00[ASN][1000 genomes]
rs758855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758856	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758858	0.92[ASN][1000 genomes]
rs8079191	1.00[EUR][1000 genomes]
rs859225	1.00[EUR][1000 genomes]
rs859231	1.00[EUR][1000 genomes]
rs859239	1.00[EUR][1000 genomes]
rs859241	1.00[EUR][1000 genomes]
rs859242	1.00[EUR][1000 genomes]
rs859244	1.00[EUR][1000 genomes]
rs859245	1.00[EUR][1000 genomes]
rs859249	1.00[EUR][1000 genomes]
rs859250	1.00[EUR][1000 genomes]
rs859251	1.00[EUR][1000 genomes]
rs859254	1.00[EUR][1000 genomes]
rs859258	1.00[EUR][1000 genomes]
rs859259	1.00[EUR][1000 genomes]
rs859260	1.00[EUR][1000 genomes]
rs859261	1.00[EUR][1000 genomes]
rs859262	1.00[EUR][1000 genomes]
rs859263	1.00[EUR][1000 genomes]
rs859264	1.00[EUR][1000 genomes]
rs859265	1.00[EUR][1000 genomes]
rs859266	1.00[EUR][1000 genomes]
rs859267	1.00[EUR][1000 genomes]
rs859268	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
10	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS 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 miRNA target site	164 gene(s)	inside rSNPs	diseases
12	nsv1061987	chr17:15810017-15855135	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15843400-15845800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr17:15844200-15847600	Weak transcription	Right Atrium	heart
3	chr17:15844400-15845800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
4	chr17:15844800-15846200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:15844800-15846200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:15844800-15846400	Enhancers	NHEK	skin
7	chr17:15844800-15846800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:15845200-15845600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:15845200-15845600	Flanking Active TSS	Hela-S3	cervix
10	chr17:15845200-15846000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:15845200-15846200	Enhancers	HMEC	breast
12	chr17:15845200-15846200	Enhancers	NH-A	brain
13	chr17:15845200-15846400	Enhancers	HUVEC	blood vessel
14	chr17:15845200-15846600	Enhancers	Placenta	Placenta
15	chr17:15845400-15845800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr17:15845400-15846200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr17:15845400-15846400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr17:15845400-15847200	Enhancers	Primary neutrophils fromperipheralblood	blood

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