Variant report

Variant	rs12085542
Chromosome Location	chr1:158724073-158724074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:158724057-158724107	Hepatocyte	liver:	n/a
2	chr1:158724057-158724107	AG04449	skin:	fetal
3	chr1:158724057-158724107	HNPCEpiC	eye:	n/a
4	chr1:158724057-158724107	BE2_C	brain:	n/a
5	chr1:158724057-158724107	HEEpiC	esophagus:	n/a
6	chr1:158724057-158724107	K562	blood:	n/a
7	chr1:158724057-158724107	NB4	blood:	n/a
8	chr1:158724057-158724107	NT2-D1	testis:	n/a
9	chr1:158724057-158724107	ovcar-3	ovarian:	n/a
10	chr1:158724057-158724107	BJ	skin:	n/a
11	chr1:158724057-158724107	MCF-7	breast:	n/a
12	chr1:158724057-158724107	HCPEpiC	choroid plexus:	n/a
13	chr1:158724057-158724107	SK-N-MC	brain:	n/a
14	chr1:158724057-158724107	SK-N-SH	brain:	n/a
15	chr1:158724057-158724107	U87	brain:	n/a
16	chr1:158724057-158724107	SKMC	muscle:	n/a
17	chr1:158724057-158724107	HCT-116	colon:	n/a
18	chr1:158724057-158724107	HEK293	kidney:	embryo
19	chr1:158724057-158724107	RPTEC	kidney:	n/a
20	chr1:158724057-158724107	SAEC	small airway:	n/a
21	chr1:158724057-158724107	SK-N-SH_RA	brain:	n/a
22	chr1:158724057-158724107	HepG2	liver:	n/a
23	chr1:158724057-158724107	MCF10A-Er-Src	breast:	n/a
24	chr1:158724057-158724107	NHDF-neo	bronchial:	n/a
25	chr1:158724057-158724107	T-47D	breast:	n/a
26	chr1:158724057-158724107	HCM	heart:	n/a
27	chr1:158724057-158724107	ProgFib	skin:	n/a
28	chr1:158724057-158724107	AG04450	lung:	fetal
29	chr1:158724057-158724107	HAEpiC	amniotic membrane:	n/a
30	chr1:158724057-158724107	Caco-2	colon:	n/a
31	chr1:158724057-158724107	HL-60	blood:	n/a
32	chr1:158724057-158724107	Hela-S3	cervix:	n/a
33	chr1:158724057-158724107	HRPEpiC	eye:	n/a
34	chr1:158724057-158724107	GM12891	blood:	n/a
35	chr1:158724057-158724107	GM12892	blood:	n/a
36	chr1:158724057-158724107	LNCaP	prostate:	n/a
37	chr1:158724057-158724107	NH-A	brain:	n/a
38	chr1:158724057-158724107	IMR90	lung:	fetal
39	chr1:158724057-158724107	GM06990	blood:	n/a
40	chr1:158724057-158724107	PrEC	prostate:	n/a
41	chr1:158724057-158724107	HRE	kidney:	n/a
42	chr1:158724057-158724107	ECC-1	luminal epithelium:	n/a
43	chr1:158724057-158724107	AoSMC	blood vessel:	n/a
44	chr1:158724057-158724107	A549	lung:	n/a
45	chr1:158724057-158724107	Jurkat	blood:	n/a
46	chr1:158724057-158724107	HCF	heart:	n/a
47	chr1:158724057-158724107	HIPEpiC	eye:	n/a
48	chr1:158724057-158724107	HUVEC	blood vessel:	n/a
49	chr1:158724057-158724107	PFSK-1	brain:	n/a
50	chr1:158724057-158724107	GM12878	blood:	n/a

No data

Variant related genes	Relation type
OR6K6	CpG island

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10489840	1.00[MEX][hapmap]
rs11265061	0.80[AMR][1000 genomes]
rs11265062	0.80[AMR][1000 genomes]
rs12084048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087634	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840675	1.00[YRI][hapmap]
rs16840971	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840976	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840980	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840986	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840991	0.89[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841009	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841017	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841025	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841033	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841038	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841045	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2226909	0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59553196	0.91[AMR][1000 genomes]
rs59833969	0.91[AMR][1000 genomes]
rs60761924	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61637596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74122455	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3491788	chr1:158537183-158725907	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3491789	chr1:158537242-158725858	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1006288	chr1:158684002-158844221	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv535181	chr1:158684002-158844221	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv817245	chr1:158684003-158844220	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv547988	chr1:158685036-158848064	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv547989	chr1:158685036-158852953	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv2764266	chr1:158700732-158725880	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1011085	chr1:158703583-158845135	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv1002401	chr1:158712627-158972031	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv547993	chr1:158715288-158727887	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv547994	chr1:158715288-158727943	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv547995	chr1:158715773-158729346	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3453410	chr1:158719983-158725862	ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
15	esv3353649	chr1:158719993-158725860	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
16	esv3453411	chr1:158719997-158725858	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 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	chr1:158692600-158735200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:158722400-158724800	Enhancers	Fetal Heart	heart

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