Variant report

Variant	rs17660230
Chromosome Location	chr8:87097147-87097148
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	SMC3	chr8:87097062-87097237	GM12878	blood:	n/a	n/a
2	CTCF	chr8:87096897-87097427	MCF-7	breast:	n/a	n/a
3	CTCF	chr8:87096915-87097273	MCF-7	breast:	n/a	n/a
4	MAFK	chr8:87096893-87097236	K562	blood:	n/a	chr8:87097061-87097081 chr8:87097060-87097075 chr8:87097063-87097079 chr8:87097064-87097078
5	CTCF	chr8:87097060-87097210	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr8:87097020-87097170	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr8:87097100-87097250	HPF	lung:	n/a	n/a
8	CTCF	chr8:87097100-87097250	HRE	kidney:	n/a	n/a
9	CTCF	chr8:87097040-87097190	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr8:87097000-87097150	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr8:87097060-87097210	HVMF	connective:	n/a	n/a
12	CTCF	chr8:87097013-87097204	MCF-7	breast:	n/a	n/a
13	CTCF	chr8:87097108-87097161	HepG2	liver:	n/a	n/a
14	SMC3	chr8:87097033-87097233	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr8:87097091-87097168	GM13977	blood:	n/a	n/a
16	CTCF	chr8:87097020-87097170	Caco-2	colon:	n/a	n/a
17	CTCF	chr8:87097120-87097270	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr8:87097080-87097230	HAc	cerebellar:	n/a	n/a
19	CTCF	chr8:87097040-87097190	MCF-7	breast:	n/a	n/a
20	CTCF	chr8:87097080-87097230	RPTEC	kidney:	n/a	n/a
21	CTCF	chr8:87097068-87097208	K562	blood:	n/a	n/a
22	CTCF	chr8:87097060-87097210	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr8:87096828-87097442	HCT-116	colon:	n/a	n/a
24	CTCF	chr8:87097040-87097190	HPAF	blood vessel:	n/a	n/a
25	RAD21	chr8:87096896-87097381	MCF-7	breast:	n/a	n/a
26	CTCF	chr8:87097060-87097210	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:87097080-87097230	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr8:87097080-87097230	HRE	kidney:	n/a	n/a
29	MAFF	chr8:87096902-87097235	K562	blood:	n/a	chr8:87097058-87097076 chr8:87097064-87097078
30	CTCF	chr8:87097060-87097210	HMF	breast:	n/a	n/a
31	CTCF	chr8:87097080-87097230	HepG2	liver:	n/a	n/a
32	RAD21	chr8:87096854-87097367	HCT-116	colon:	n/a	n/a
33	CTCF	chr8:87097120-87097270	HVMF	connective:	n/a	n/a
34	CTCF	chr8:87097060-87097210	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr8:87097080-87097230	HCFaa	heart:	n/a	n/a
36	MAFF	chr8:87096886-87097251	HepG2	liver:	n/a	chr8:87097058-87097076 chr8:87097064-87097078
37	CTCF	chr8:87096831-87097329	HCT-116	colon:	n/a	n/a
38	CTCF	chr8:87097080-87097230	GM06990	blood:	n/a	n/a
39	RAD21	chr8:87096902-87097216	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:87097040-87097190	HPF	lung:	n/a	n/a
41	CTCF	chr8:87097100-87097250	HBMEC	blood vessel:	n/a	n/a
42	MAFK	chr8:87096889-87097252	IMR90	lung:	n/a	chr8:87097061-87097081 chr8:87097060-87097075 chr8:87097063-87097079 chr8:87097064-87097078
43	CTCF	chr8:87097020-87097170	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr8:87097000-87097150	GM12866	blood:	n/a	n/a
45	CTCF	chr8:87097100-87097250	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr8:87097057-87097182	MCF-7	breast:	n/a	n/a
47	CTCF	chr8:87097100-87097250	AG10803	skin:	n/a	n/a
48	CTCF	chr8:87097060-87097210	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr8:87097080-87097230	HMEC	breast:	n/a	n/a
50	JUN	chr8:87096865-87097186	HepG2	liver:	n/a	chr8:87097006-87097019

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87058815..87059551-chr8:87097105..87097612,2	MCF-7	breast:

Variant related genes	Relation type
PSKH2	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11775441	0.89[EUR][1000 genomes]
rs17602780	0.90[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62509890	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62509892	0.89[EUR][1000 genomes]
rs62509897	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62509898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62509922	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62509923	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62509936	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1034721	chr8:86977250-87131151	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv891148	chr8:86987886-87149808	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv891149	chr8:87023306-87167184	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1034855	chr8:87040075-87168730	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3493409	chr8:87085885-87109161	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv3493410	chr8:87085885-87109161	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87082400-87126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87095400-87098400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr8:87096200-87097200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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