Variant report

Variant	rs12486
Chromosome Location	chr18:28935694-28935695
allele	A/G
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	chr18:28935651-28935701	HCM	heart:	n/a
2	chr18:28935651-28935701	RPTEC	kidney:	n/a
3	chr18:28935651-28935701	HCT-116	colon:	n/a
4	chr18:28935651-28935701	K562	blood:	n/a
5	chr18:28935651-28935701	BE2_C	brain:	n/a
6	chr18:28935651-28935701	HRE	kidney:	n/a
7	chr18:28935651-28935701	NHDF-neo	bronchial:	n/a
8	chr18:28935651-28935701	CMK	blood:	n/a
9	chr18:28935651-28935701	AG04449	skin:	fetal
10	chr18:28935651-28935701	Jurkat	blood:	n/a
11	chr18:28935651-28935701	SK-N-SH_RA	brain:	n/a
12	chr18:28935651-28935701	ECC-1	luminal epithelium:	n/a
13	chr18:28935651-28935701	PFSK-1	brain:	n/a
14	chr18:28935651-28935701	Hela-S3	cervix:	n/a
15	chr18:28935651-28935701	AG09309	skin:	n/a
16	chr18:28935651-28935701	HRCEpiC	kidney:	n/a
17	chr18:28935651-28935701	NB4	blood:	n/a
18	chr18:28935651-28935701	NHBE	bronchial:	n/a
19	chr18:28935651-28935701	MCF10A-Er-Src	breast:	n/a
20	chr18:28935651-28935701	HNPCEpiC	eye:	n/a
21	chr18:28935651-28935701	ovcar-3	ovarian:	n/a
22	chr18:28935651-28935701	HPAEpiC	pulmonary alveolar:	n/a
23	chr18:28935651-28935701	T-47D	breast:	n/a
24	chr18:28935651-28935701	HEK293	kidney:	embryo
25	chr18:28935651-28935701	SK-N-MC	brain:	n/a
26	chr18:28935651-28935701	U87	brain:	n/a
27	chr18:28935651-28935701	ProgFib	skin:	n/a
28	chr18:28935651-28935701	A549	lung:	n/a
29	chr18:28935651-28935701	BJ	skin:	n/a
30	chr18:28935651-28935701	LNCaP	prostate:	n/a
31	chr18:28935651-28935701	GM19239	blood:	n/a
32	chr18:28935651-28935701	SAEC	small airway:	n/a
33	chr18:28935651-28935701	SKMC	muscle:	n/a
34	chr18:28935651-28935701	HCF	heart:	n/a
35	chr18:28935651-28935701	PrEC	prostate:	n/a
36	chr18:28935651-28935701	HepG2	liver:	n/a
37	chr18:28935651-28935701	AoSMC	blood vessel:	n/a
38	chr18:28935651-28935701	Hepatocyte	liver:	n/a
39	chr18:28935651-28935701	GM06990	blood:	n/a
40	chr18:28935651-28935701	PANC-1	pancreas:	n/a
41	chr18:28935651-28935701	HMEC	breast:	n/a
42	chr18:28935651-28935701	GM12878	blood:	n/a
43	chr18:28935651-28935701	HUVEC	blood vessel:	n/a
44	chr18:28935651-28935701	H1-hESC	embryonic stem cell:	embryo
45	chr18:28935651-28935701	HL-60	blood:	n/a
46	chr18:28935651-28935701	GM12892	blood:	n/a
47	chr18:28935651-28935701	AG10803	skin:	n/a
48	chr18:28935651-28935701	Caco-2	colon:	n/a
49	chr18:28935651-28935701	AG04450	lung:	fetal
50	chr18:28935651-28935701	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
ENSG00000266729	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1042754	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11875693	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16961692	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16961693	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16961694	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs16961701	0.88[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17842356	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56030969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57121909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58163687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59045214	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59243474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59911099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60226049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv909516	chr18:28910615-28946104	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr18:28934400-28942800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:28935200-28936800	Weak transcription	Liver	Liver
3	chr18:28935400-28942600	Weak transcription	Esophagus	oesophagus

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