Variant report

Variant	rs9968651
Chromosome Location	chr5:15383605-15383606
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr5:15383554-15383922	H1-hESC	embryonic stem cell:	n/a	n/a
2	SMC3	chr5:15383453-15384077	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr5:15383562-15383982	A549	lung:	n/a	n/a
4	RAD21	chr5:15383597-15383942	HepG2	liver:	n/a	n/a
5	CTCF	chr5:15383591-15383937	GM12878	blood:	n/a	n/a
6	RAD21	chr5:15383579-15383971	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr5:15383563-15383986	MCF-7	breast:	n/a	n/a
8	CTCF	chr5:15383502-15384000	A549	lung:	n/a	n/a
9	RAD21	chr5:15383581-15383971	SK-N-SH_RA	brain:	n/a	n/a
10	RAD21	chr5:15383560-15384049	MCF-7	breast:	n/a	n/a
11	RAD21	chr5:15383584-15383937	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr5:15383575-15384061	MCF-7	breast:	n/a	n/a
13	CTCF	chr5:15383425-15383993	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr5:15383491-15383914	MCF-7	breast:	n/a	n/a
15	RAD21	chr5:15383587-15383918	A549	lung:	n/a	n/a
16	RAD21	chr5:15383587-15383964	IMR90	lung:	n/a	n/a
17	RAD21	chr5:15383577-15383986	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr5:15383157-15384152	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr5:15383583-15383950	IMR90	lung:	n/a	n/a
20	RAD21	chr5:15383594-15383914	GM12878	blood:	n/a	n/a
21	RAD21	chr5:15383605-15383963	SK-N-SH_RA	brain:	n/a	n/a
22	TEAD4	chr5:15383561-15383857	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:15383237..15384294-chr5:15793976..15794826,3	MCF-7	breast:
2	chr5:15105601..15106226-chr5:15383297..15383849,2	MCF-7	breast:
3	chr5:15383442..15384171-chr5:15993598..15994416,2	MCF-7	breast:

No data

Variant related genes	Relation type
MARK2P5	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10059008	1.00[EUR][1000 genomes]
rs10063263	1.00[EUR][1000 genomes]
rs10077393	1.00[EUR][1000 genomes]
rs10079818	0.82[AFR][1000 genomes]
rs10079824	0.82[AFR][1000 genomes]
rs11133817	1.00[EUR][1000 genomes]
rs13356380	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1529487	1.00[EUR][1000 genomes]
rs16903864	1.00[EUR][1000 genomes]
rs16903892	1.00[EUR][1000 genomes]
rs188592	1.00[EUR][1000 genomes]
rs2402164	1.00[EUR][1000 genomes]
rs28713425	1.00[EUR][1000 genomes]
rs28716171	1.00[EUR][1000 genomes]
rs2896211	1.00[EUR][1000 genomes]
rs304557	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs304559	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs304560	1.00[EUR][1000 genomes]
rs304561	1.00[EUR][1000 genomes]
rs304562	1.00[EUR][1000 genomes]
rs304582	0.91[AMR][1000 genomes]
rs4701626	1.00[EUR][1000 genomes]
rs4701628	1.00[EUR][1000 genomes]
rs4701629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4702074	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4702075	1.00[EUR][1000 genomes]
rs4702077	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs512861	1.00[EUR][1000 genomes]
rs572051	1.00[EUR][1000 genomes]
rs575014	1.00[EUR][1000 genomes]
rs57991493	1.00[EUR][1000 genomes]
rs598853	1.00[EUR][1000 genomes]
rs609984	1.00[EUR][1000 genomes]
rs623156	1.00[EUR][1000 genomes]
rs633807	1.00[EUR][1000 genomes]
rs652985	1.00[EUR][1000 genomes]
rs6554885	1.00[EUR][1000 genomes]
rs683393	1.00[EUR][1000 genomes]
rs685706	1.00[EUR][1000 genomes]
rs73751952	1.00[EUR][1000 genomes]
rs73751955	1.00[EUR][1000 genomes]
rs7709371	1.00[EUR][1000 genomes]
rs7717617	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9312884	1.00[EUR][1000 genomes]
rs9312886	1.00[EUR][1000 genomes]
rs9968700	0.90[AFR][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	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking 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	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv881558	chr5:15291398-15420775	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15383200-15385800	Enhancers	Fetal Heart	heart
2	chr5:15383600-15383800	Enhancers	Stomach Smooth Muscle	stomach

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