Variant report

Variant	rs12103931
Chromosome Location	chr17:15844835-15844836
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	POLR2A	chr17:15844732-15845170	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15842605..15845101-chr17:15849558..15852028,2	K562	blood:
2	chr17:15841943..15846200-chr17:15846723..15848699,3	MCF-7	breast:
3	chr17:15842295..15844901-chr17:15846137..15847870,2	MCF-7	breast:

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

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs2228101	1.00[EUR][1000 genomes]
rs58182068	1.00[EUR][1000 genomes]
rs58206797	1.00[EUR][1000 genomes]
rs58678411	1.00[EUR][1000 genomes]
rs59239162	1.00[EUR][1000 genomes]
rs59242320	1.00[EUR][1000 genomes]
rs59543390	1.00[EUR][1000 genomes]
rs59647552	1.00[EUR][1000 genomes]
rs59805617	1.00[EUR][1000 genomes]
rs60453431	1.00[EUR][1000 genomes]
rs60636875	1.00[EUR][1000 genomes]
rs60812331	1.00[EUR][1000 genomes]
rs60842225	1.00[EUR][1000 genomes]
rs61374610	1.00[EUR][1000 genomes]
rs61464947	1.00[EUR][1000 genomes]
rs61478648	1.00[EUR][1000 genomes]
rs7209874	1.00[EUR][1000 genomes]
rs7209920	1.00[EUR][1000 genomes]
rs7211406	1.00[EUR][1000 genomes]
rs7213299	1.00[EUR][1000 genomes]
rs73274315	1.00[EUR][1000 genomes]
rs73274366	1.00[EUR][1000 genomes]
rs73274391	1.00[EUR][1000 genomes]
rs73274394	1.00[EUR][1000 genomes]
rs73276038	1.00[EUR][1000 genomes]
rs73276041	1.00[EUR][1000 genomes]
rs73276049	1.00[EUR][1000 genomes]
rs73276056	1.00[EUR][1000 genomes]
rs73276059	1.00[EUR][1000 genomes]
rs73276065	1.00[EUR][1000 genomes]
rs73276071	1.00[EUR][1000 genomes]
rs73276077	1.00[EUR][1000 genomes]
rs73276080	1.00[EUR][1000 genomes]
rs73276085	1.00[EUR][1000 genomes]
rs73278155	1.00[EUR][1000 genomes]
rs73278190	1.00[EUR][1000 genomes]
rs73280217	1.00[EUR][1000 genomes]
rs73280221	1.00[EUR][1000 genomes]
rs73280227	1.00[EUR][1000 genomes]
rs73280233	1.00[EUR][1000 genomes]
rs73280237	1.00[EUR][1000 genomes]
rs73280240	1.00[EUR][1000 genomes]
rs73280256	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15832000-15845200	Weak transcription	Placenta	Placenta
2	chr17:15832800-15845400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr17:15843400-15845800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr17:15844200-15847600	Weak transcription	Right Atrium	heart
5	chr17:15844400-15845800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
6	chr17:15844800-15845200	Enhancers	Hela-S3	cervix
7	chr17:15844800-15846200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:15844800-15846200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:15844800-15846400	Enhancers	NHEK	skin
10	chr17:15844800-15846800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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