Variant report

Variant	rs16879869
Chromosome Location	chr8:110664877-110664878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:159)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:159 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:110664740-110664890	AG09309	skin:	n/a	n/a
2	CTCF	chr8:110664760-110664910	AG09319	gingival:	n/a	n/a
3	CTCF	chr8:110664780-110664930	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr8:110664740-110664890	GM12874	blood:	n/a	n/a
5	CTCF	chr8:110664772-110664940	Lung_OC	lung:	n/a	n/a
6	CTCF	chr8:110664732-110664959	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr8:110664780-110664930	K562	blood:	n/a	n/a
8	RAD21	chr8:110664637-110664955	HepG2	liver:	n/a	chr8:110664792-110664801
9	CTCF	chr8:110664760-110664910	Caco-2	colon:	n/a	n/a
10	CTCF	chr8:110664820-110664970	A549	lung:	n/a	n/a
11	CTCF	chr8:110664725-110664972	K562	blood:	n/a	n/a
12	MAFK	chr8:110664671-110664925	HepG2	liver:	n/a	n/a
13	CTCF	chr8:110664800-110664950	NHLF	lung:	n/a	n/a
14	CTCF	chr8:110664800-110664950	HAc	cerebellar:	n/a	n/a
15	CTCF	chr8:110664760-110664910	GM12872	blood:	n/a	n/a
16	SMC3	chr8:110664684-110664993	K562	blood:	n/a	n/a
17	CTCF	chr8:110664736-110665004	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr8:110664780-110664930	GM06990	blood:	n/a	n/a
19	CTCF	chr8:110664760-110664910	HCFaa	heart:	n/a	n/a
20	CTCF	chr8:110664800-110664950	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr8:110664780-110664930	AG04449	skin:	n/a	n/a
22	CTCF	chr8:110664820-110664970	MCF-7	breast:	n/a	n/a
23	CTCF	chr8:110664760-110664910	GM12870	blood:	n/a	n/a
24	CTCF	chr8:110664775-110664883	MCF-7	breast:	n/a	n/a
25	CTCF	chr8:110664800-110664950	BE2_C	brain:	n/a	n/a
26	CTCF	chr8:110664740-110664890	Caco-2	colon:	n/a	n/a
27	CTCF	chr8:110664840-110664990	AG04450	lung:	n/a	n/a
28	CTCF	chr8:110664721-110664978	A549	lung:	n/a	n/a
29	SMC3	chr8:110664283-110665298	SK-N-SH	brain:	n/a	n/a
30	RAD21	chr8:110664584-110665022	GM12878	blood:	n/a	chr8:110664792-110664801
31	CTCF	chr8:110664742-110664937	GM13977	blood:	n/a	n/a
32	CTCF	chr8:110664800-110664950	GM12801	blood:	n/a	n/a
33	CTCF	chr8:110664780-110664930	HepG2	liver:	n/a	n/a
34	CTCF	chr8:110664681-110664914	SK-N-SH_RA	brain:	n/a	n/a
35	RAD21	chr8:110664640-110665022	IMR90	lung:	n/a	chr8:110664792-110664801
36	CTCF	chr8:110664800-110664950	GM12875	blood:	n/a	n/a
37	CTCF	chr8:110664740-110664890	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr8:110664722-110664959	GM12878	blood:	n/a	n/a
39	RAD21	chr8:110664681-110664965	A549	lung:	n/a	chr8:110664792-110664801
40	MAFK	chr8:110664714-110664969	HepG2	liver:	n/a	n/a
41	MAFF	chr8:110664741-110664980	K562	blood:	n/a	n/a
42	RAD21	chr8:110664621-110665006	SK-N-SH_RA	brain:	n/a	chr8:110664792-110664801
43	CTCF	chr8:110664800-110664950	GM12864	blood:	n/a	n/a
44	SMC3	chr8:110664635-110665040	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr8:110664780-110664930	HPAF	blood vessel:	n/a	n/a
46	MAFF	chr8:110664746-110664947	HepG2	liver:	n/a	n/a
47	CTCF	chr8:110664740-110664890	NHEK	skin:	n/a	n/a
48	CTCF	chr8:110664820-110664970	HMEC	breast:	n/a	n/a
49	RFX5	chr8:110664781-110665066	K562	blood:	n/a	n/a
50	CTCF	chr8:110664739-110665005	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110572756..110574612-chr8:110663424..110665898,2	MCF-7	breast:
2	chr8:110463988..110464714-chr8:110664335..110664899,2	MCF-7	breast:
3	chr8:110664332..110665340-chr8:110732244..110733184,5	MCF-7	breast:
4	chr8:110358379..110359744-chr8:110664444..110665358,3	MCF-7	breast:
5	chr8:110664832..110666386-chr8:110668699..110671644,3	K562	blood:
6	chr8:110551379..110553677-chr8:110663314..110665311,2	MCF-7	breast:
7	chr8:110573542..110574906-chr8:110664369..110665365,7	MCF-7	breast:
8	chr8:110463060..110463781-chr8:110664134..110664918,2	MCF-7	breast:
9	chr8:110358952..110359590-chr8:110664334..110665002,4	MCF-7	breast:
10	chr8:110664503..110665173-chr8:110732488..110733083,2	MCF-7	breast:
11	chr8:110462782..110463819-chr8:110664356..110665380,8	MCF-7	breast:
12	chr8:110459151..110460064-chr8:110664745..110665328,2	MCF-7	breast:
13	chr8:110573747..110574531-chr8:110664322..110665293,6	MCF-7	breast:

No data

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10092211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092626	1.00[CEU][hapmap]
rs10096439	1.00[CEU][hapmap]
rs10098728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105594	1.00[CEU][hapmap]
rs10105602	1.00[CEU][hapmap]
rs10106169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106809	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107091	1.00[CEU][hapmap]
rs11988264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268243	0.80[YRI][hapmap]
rs16879807	1.00[CEU][hapmap]
rs16879840	1.00[CEU][hapmap]
rs16879862	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879889	1.00[ASN][1000 genomes]
rs16879903	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879906	1.00[ASN][1000 genomes]
rs28404625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28465493	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28636990	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28726128	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4313130	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4506181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56838167	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57167766	1.00[ASN][1000 genomes]
rs57285880	1.00[ASN][1000 genomes]
rs58404081	1.00[ASN][1000 genomes]
rs58910462	1.00[ASN][1000 genomes]
rs59161508	1.00[ASN][1000 genomes]
rs59892422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59981669	0.81[ASN][1000 genomes]
rs60841208	1.00[ASN][1000 genomes]
rs61437630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61702273	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469275	0.80[YRI][hapmap]
rs6469277	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6987830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7017357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321006	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321029	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817773	1.00[ASN][1000 genomes]
rs7824472	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825942	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842227	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843208	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9297431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9774677	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110664800-110670000	Weak transcription	Fetal Brain Male	brain

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