Variant report

Variant	rs13166665
Chromosome Location	chr5:117928801-117928802
allele	C/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	RAD21	chr5:117928688-117928938	GM12878	blood:	n/a	n/a
2	CTCF	chr5:117928780-117928930	AG09309	skin:	n/a	chr5:117928819-117928828
3	CTCF	chr5:117928680-117928830	HCT-116	colon:	n/a	chr5:117928819-117928828
4	RAD21	chr5:117928736-117928895	SK-N-SH_RA	brain:	n/a	n/a
5	YY1	chr5:117928519-117928922	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:117928780-117928930	GM12875	blood:	n/a	chr5:117928819-117928828
7	CTCF	chr5:117928780-117928930	HRPEpiC	eye:	n/a	chr5:117928819-117928828
8	CTCF	chr5:117928760-117928910	HPAF	blood vessel:	n/a	chr5:117928819-117928828
9	CTCF	chr5:117928760-117928910	MCF-7	breast:	n/a	chr5:117928819-117928828
10	CTCF	chr5:117928747-117928890	Medullo	brain:	n/a	chr5:117928819-117928828
11	CTCF	chr5:117928760-117928910	GM12878	blood:	n/a	chr5:117928819-117928828
12	CTCF	chr5:117928760-117928910	SK-N-SH_RA	brain:	n/a	chr5:117928819-117928828
13	CTCF	chr5:117928740-117928890	GM12865	blood:	n/a	chr5:117928819-117928828
14	CTCF	chr5:117928700-117928850	NB4	blood:	n/a	chr5:117928819-117928828
15	CTCF	chr5:117928720-117928870	AG04449	skin:	n/a	chr5:117928819-117928828
16	CTCF	chr5:117928720-117928870	GM06990	blood:	n/a	chr5:117928819-117928828
17	CTCF	chr5:117928760-117928910	GM12868	blood:	n/a	chr5:117928819-117928828
18	CTCF	chr5:117928700-117928850	GM12872	blood:	n/a	chr5:117928819-117928828
19	CTCF	chr5:117928719-117928932	MCF-7	breast:	n/a	chr5:117928819-117928828
20	CTCF	chr5:117928748-117928881	GM13977	blood:	n/a	chr5:117928819-117928828
21	CTCF	chr5:117928697-117928891	HepG2	liver:	n/a	chr5:117928819-117928828
22	CTCF	chr5:117928680-117928830	GM12871	blood:	n/a	chr5:117928819-117928828
23	CTCF	chr5:117928760-117928910	BE2_C	brain:	n/a	chr5:117928819-117928828
24	CTCF	chr5:117928740-117928890	HCT-116	colon:	n/a	chr5:117928819-117928828
25	CTCF	chr5:117928700-117928850	AG10803	skin:	n/a	chr5:117928819-117928828
26	CTCF	chr5:117928746-117928908	MCF-7	breast:	n/a	chr5:117928819-117928828
27	MAFK	chr5:117928360-117928889	GM12878	blood:	n/a	chr5:117928738-117928749 chr5:117928560-117928576
28	CTCF	chr5:117928787-117928873	GM19240	blood:	n/a	chr5:117928819-117928828
29	CTCF	chr5:117928700-117928850	WERI-Rb-1	eye:	n/a	chr5:117928819-117928828
30	CTCF	chr5:117928680-117928830	Hela-S3	cervix:	n/a	chr5:117928819-117928828
31	CTCF	chr5:117928720-117928870	HCPEpiC	choroid plexus:	n/a	chr5:117928819-117928828
32	CTCF	chr5:117928760-117928910	GM12870	blood:	n/a	chr5:117928819-117928828
33	CTCF	chr5:117928800-117928950	NHDF-neo	bronchial:	n/a	chr5:117928819-117928828
34	CTCF	chr5:117928760-117928910	GM12873	blood:	n/a	chr5:117928819-117928828
35	CTCF	chr5:117928760-117928910	GM12869	blood:	n/a	chr5:117928819-117928828
36	CTCF	chr5:117928780-117928930	HepG2	liver:	n/a	chr5:117928819-117928828
37	CTCF	chr5:117928720-117928870	HepG2	liver:	n/a	chr5:117928819-117928828
38	CTCF	chr5:117928720-117928870	NHEK	skin:	n/a	chr5:117928819-117928828
39	CTCF	chr5:117928760-117928910	GM06990	blood:	n/a	chr5:117928819-117928828
40	CTCF	chr5:117928780-117928930	BJ	skin:	n/a	chr5:117928819-117928828
41	CTCF	chr5:117928700-117928850	HRE	kidney:	n/a	chr5:117928819-117928828
42	CTCF	chr5:117928800-117928950	HMF	breast:	n/a	chr5:117928819-117928828
43	CTCF	chr5:117928720-117928870	RPTEC	kidney:	n/a	chr5:117928819-117928828
44	CTCF	chr5:117928760-117928910	HFF-Myc	foreskin:	n/a	chr5:117928819-117928828
45	CTCF	chr5:117928740-117928890	HBMEC	blood vessel:	n/a	chr5:117928819-117928828
46	CTCF	chr5:117928780-117928930	A549	lung:	n/a	chr5:117928819-117928828
47	CTCF	chr5:117928760-117928910	AG10803	skin:	n/a	chr5:117928819-117928828
48	CTCF	chr5:117928760-117928910	GM12867	blood:	n/a	chr5:117928819-117928828
49	RAD21	chr5:117928696-117929006	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr5:117928740-117928890	HEK293	kidney:	n/a	chr5:117928819-117928828

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:117923008..117924830-chr5:117927973..117929496,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249128	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10214121	0.85[ASN][1000 genomes]
rs10519556	0.82[CHD][hapmap]
rs1123254	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548012	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1549713	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17144281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17144288	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17144294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17144298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17371013	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17371061	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17371476	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2043052	1.00[JPT][hapmap]
rs34030315	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34485412	0.96[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs34706452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35329212	0.81[EUR][1000 genomes]
rs35785379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35867266	0.81[EUR][1000 genomes]
rs35912189	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925959	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs62370411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862770	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6871506	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71583085	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027428	chr5:117072745-118036353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537877	chr5:117072745-118036353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1067621	chr5:117102544-118036352	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv531292	chr5:117102544-118036352	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2758013	chr5:117664725-117942247	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2759373	chr5:117664725-117942247	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv462422	chr5:117740545-118020706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv599529	chr5:117740545-118020706	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv427731	chr5:117781143-118023504	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv1021863	chr5:117832733-117955524	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv462424	chr5:117843869-117955570	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv599539	chr5:117843869-117955570	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv462425	chr5:117843869-117967472	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv599540	chr5:117843869-117967472	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv599541	chr5:117869174-118049776	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv882764	chr5:117884766-118014946	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv1027667	chr5:117891559-118036578	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv882765	chr5:117893138-118020617	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv882766	chr5:117893138-118032245	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv1034379	chr5:117900051-118027895	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv537880	chr5:117900051-118027895	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
23	nsv1020086	chr5:117901084-118013265	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117927200-117932600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:117927400-117929200	Enhancers	Fetal Muscle Leg	muscle
3	chr5:117927800-117929200	Enhancers	Fetal Lung	lung
4	chr5:117928200-117932200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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