Variant report

Variant	rs166215
Chromosome Location	chr5:52497637-52497638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr5:52497542-52498016	HCT-116	colon:	n/a	n/a
2	IRF1	chr5:52497626-52497945	K562	blood:	n/a	n/a
3	CTCF	chr5:52497622-52497863	HepG2	liver:	n/a	n/a
4	CTCF	chr5:52497572-52497910	K562	blood:	n/a	n/a
5	RAD21	chr5:52497578-52497867	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:52497511-52497903	A549	lung:	n/a	n/a
7	IRF1	chr5:52497629-52497952	K562	blood:	n/a	n/a
8	RCOR1	chr5:52497501-52497936	K562	blood:	n/a	n/a
9	CTCF	chr5:52497565-52498052	K562	blood:	n/a	n/a
10	RAD21	chr5:52497597-52497948	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr5:52497614-52497872	A549	lung:	n/a	n/a
12	YY1	chr5:52497589-52497866	H1-hESC	embryonic stem cell:	n/a	chr5:52497717-52497729
13	CTCF	chr5:52497620-52497770	GM12871	blood:	n/a	n/a
14	RAD21	chr5:52497589-52497865	K562	blood:	n/a	n/a
15	MAZ	chr5:52497577-52497944	K562	blood:	n/a	n/a
16	CTCF	chr5:52497489-52497901	HCT-116	colon:	n/a	n/a
17	RAD21	chr5:52497625-52497917	K562	blood:	n/a	n/a
18	CTCF	chr5:52497563-52497914	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr5:52497537-52497833	H1-hESC	embryonic stem cell:	n/a	chr5:52497717-52497729
20	RAD21	chr5:52497592-52497891	HepG2	liver:	n/a	n/a
21	CTCF	chr5:52497620-52497770	AG04450	lung:	n/a	n/a
22	RAD21	chr5:52497578-52497916	HepG2	liver:	n/a	n/a
23	CTCF	chr5:52497618-52497943	HepG2	liver:	n/a	n/a
24	CTCF	chr5:52497580-52497730	WI-38	lung:	n/a	n/a
25	RAD21	chr5:52497566-52497909	ECC-1	luminal epithelium:	n/a	n/a
26	CTCF	chr5:52497600-52497750	GM12875	blood:	n/a	n/a
27	ZNF143	chr5:52497605-52497945	K562	blood:	n/a	n/a
28	CTCF	chr5:52497588-52497953	K562	blood:	n/a	n/a
29	CTCF	chr5:52497567-52497964	K562	blood:	n/a	n/a
30	YY1	chr5:52497602-52497801	K562	blood:	n/a	chr5:52497717-52497729
31	CTCF	chr5:52497600-52497750	AG04450	lung:	n/a	n/a
32	CTCF	chr5:52497620-52497770	HCM	heart:	n/a	n/a
33	CTCF	chr5:52497541-52497859	H1-hESC	embryonic stem cell:	n/a	n/a
34	SPI1	chr5:52497531-52497744	K562	blood:	n/a	n/a
35	RAD21	chr5:52497570-52497833	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr5:52497617-52497909	K562	blood:	n/a	n/a
37	RAD21	chr5:52497604-52497870	HepG2	liver:	n/a	n/a
38	RAD21	chr5:52497497-52497998	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52419531..52420160-chr5:52497344..52497892,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213940	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs152975	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs152976	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs152978	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153123	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs153127	0.85[ASN][1000 genomes]
rs153666	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs166216	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs173844	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs181897	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs183682	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs251504	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs251506	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs251508	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251514	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs251515	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs251581	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs251587	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs252048	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs254142	0.85[ASN][1000 genomes]
rs254481	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs254482	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27319	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27320	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27321	0.82[ASN][1000 genomes]
rs27322	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs38054	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs443738	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58993230	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61011254	0.89[ASN][1000 genomes]
rs62357428	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs774235	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs774236	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs812852	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv515913	chr5:52492677-52545841	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv522454	chr5:52492677-52571758	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv968913	chr5:52495296-52509384	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv598173	chr5:52495682-52499899	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv20413	chr5:52497292-52500173	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52489000-52507000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:52489600-52507800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links