Variant report

Variant	rs12036873
Chromosome Location	chr1:160505215-160505216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:160505140-160505290	GM12873	blood:	n/a	n/a
2	USF1	chr1:160504972-160505325	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr1:160505160-160505310	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr1:160505100-160505250	HepG2	liver:	n/a	n/a
5	CTCF	chr1:160505180-160505330	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr1:160505140-160505290	GM12872	blood:	n/a	n/a
7	JUND	chr1:160505012-160505305	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr1:160505058-160505367	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:160505140-160505290	HRE	kidney:	n/a	n/a
10	KAP1	chr1:160503897-160505771	K562	blood:	n/a	n/a
11	CTCF	chr1:160505160-160505310	GM12875	blood:	n/a	n/a
12	CTCF	chr1:160505100-160505250	GM12865	blood:	n/a	n/a
13	CTCF	chr1:160505140-160505290	GM12866	blood:	n/a	n/a
14	CTCF	chr1:160505140-160505290	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr1:160505120-160505270	HepG2	liver:	n/a	n/a
16	CTCF	chr1:160505031-160505357	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr1:160505207-160505257	A549	lung:	n/a	n/a
18	CTCF	chr1:160505193-160505252	GM13977	blood:	n/a	n/a
19	CTCF	chr1:160505080-160505230	GM12864	blood:	n/a	n/a
20	CBX3	chr1:160504562-160505392	K562	blood:	n/a	n/a
21	CTCF	chr1:160505080-160505230	BE2_C	brain:	n/a	n/a
22	CTCF	chr1:160505162-160505253	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr1:160505137-160505280	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr1:160505157-160505260	GM12878	blood:	n/a	n/a
25	CTCF	chr1:160505119-160505292	Gliobla	brain:	n/a	n/a
26	CTCF	chr1:160505136-160505265	HepG2	liver:	n/a	n/a
27	CTCF	chr1:160505126-160505302	HepG2	liver:	n/a	n/a
28	CTCF	chr1:160505160-160505310	A549	lung:	n/a	n/a
29	CTCF	chr1:160505176-160505229	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:160505160-160505450	A549	lung:	n/a	n/a
31	RAD21	chr1:160504983-160505446	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr1:160505076-160505275	K562	blood:	n/a	n/a
33	CTCF	chr1:160505114-160505277	K562	blood:	n/a	n/a
34	SETDB1	chr1:160503536-160506269	K562	blood:	n/a	n/a
35	CTCF	chr1:160505100-160505250	HCT-116	colon:	n/a	n/a
36	RAD21	chr1:160505101-160505393	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr1:160505140-160505290	GM12874	blood:	n/a	n/a
38	CTCF	chr1:160505140-160505290	GM12865	blood:	n/a	n/a
39	CBX3	chr1:160504608-160505313	K562	blood:	n/a	n/a
40	ZNF143	chr1:160505092-160505349	H1-hESC	embryonic stem cell:	n/a	n/a
41	SETDB1	chr1:160504531-160505257	U2OS	brain:	n/a	n/a
42	CTCF	chr1:160505140-160505290	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr1:160505180-160505330	GM12873	blood:	n/a	n/a
44	CTCF	chr1:160505140-160505290	HEK293	kidney:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000234425	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11265431	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12033630	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]
rs12034517	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080742	0.82[YRI][hapmap];0.97[ASN][1000 genomes]
rs56354572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60930426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6659886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73014378	0.84[AMR][1000 genomes]
rs73016361	0.84[AMR][1000 genomes]
rs73016366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73016371	0.84[AMR][1000 genomes]
rs7517554	0.88[EUR][1000 genomes]
rs7543880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv872491	chr1:160470258-160580549	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr1:160505000-160505800	ZNF genes & repeats	Dnd41	blood
2	chr1:160505200-160505400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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