Variant report

Variant	rs9658253
Chromosome Location	chr12:117800626-117800627
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	chr12:117800609-117800659	GM19239	blood:	n/a
2	chr12:117800609-117800659	HCF	heart:	n/a
3	chr12:117800609-117800659	Jurkat	blood:	n/a
4	chr12:117800609-117800659	SAEC	small airway:	n/a
5	chr12:117800609-117800659	GM12878	blood:	n/a
6	chr12:117800609-117800659	HIPEpiC	eye:	n/a
7	chr12:117800609-117800659	T-47D	breast:	n/a
8	chr12:117800609-117800659	HCT-116	colon:	n/a
9	chr12:117800609-117800659	BJ	skin:	n/a
10	chr12:117800609-117800659	IMR90	lung:	fetal
11	chr12:117800609-117800659	Hela-S3	cervix:	n/a
12	chr12:117800609-117800659	AG09319	gingival:	n/a
13	chr12:117800609-117800659	MCF10A-Er-Src	breast:	n/a
14	chr12:117800609-117800659	HRPEpiC	eye:	n/a
15	chr12:117800609-117800659	Caco-2	colon:	n/a
16	chr12:117800609-117800659	GM12891	blood:	n/a
17	chr12:117800609-117800659	SK-N-SH	brain:	n/a
18	chr12:117800609-117800659	PFSK-1	brain:	n/a
19	chr12:117800609-117800659	AG04449	skin:	fetal
20	chr12:117800609-117800659	H1-hESC	embryonic stem cell:	embryo
21	chr12:117800609-117800659	NH-A	brain:	n/a
22	chr12:117800609-117800659	RPTEC	kidney:	n/a
23	chr12:117800609-117800659	AG09309	skin:	n/a
24	chr12:117800609-117800659	NB4	blood:	n/a
25	chr12:117800609-117800659	A549	lung:	n/a
26	chr12:117800609-117800659	NHBE	bronchial:	n/a
27	chr12:117800609-117800659	HCPEpiC	choroid plexus:	n/a
28	chr12:117800609-117800659	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:117800609-117800659	HCM	heart:	n/a
30	chr12:117800609-117800659	CMK	blood:	n/a
31	chr12:117800609-117800659	PrEC	prostate:	n/a
32	chr12:117800609-117800659	NHDF-neo	bronchial:	n/a
33	chr12:117800609-117800659	HNPCEpiC	eye:	n/a
34	chr12:117800609-117800659	PANC-1	pancreas:	n/a
35	chr12:117800609-117800659	HAEpiC	amniotic membrane:	n/a
36	chr12:117800609-117800659	SK-N-MC	brain:	n/a
37	chr12:117800609-117800659	HEEpiC	esophagus:	n/a
38	chr12:117800609-117800659	AoSMC	blood vessel:	n/a
39	chr12:117800609-117800659	SKMC	muscle:	n/a
40	chr12:117800609-117800659	GM12892	blood:	n/a
41	chr12:117800609-117800659	NT2-D1	testis:	n/a
42	chr12:117800609-117800659	HL-60	blood:	n/a
43	chr12:117800609-117800659	U87	brain:	n/a
44	chr12:117800609-117800659	ProgFib	skin:	n/a
45	chr12:117800609-117800659	ovcar-3	ovarian:	n/a
46	chr12:117800609-117800659	SK-N-SH_RA	brain:	n/a
47	chr12:117800609-117800659	HRCEpiC	kidney:	n/a
48	chr12:117800609-117800659	AG10803	skin:	n/a
49	chr12:117800609-117800659	HMEC	breast:	n/a
50	chr12:117800609-117800659	GM06990	blood:	n/a

No data

Variant related genes	Relation type
NOS1	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12425916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827766	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2101238	0.84[EUR][1000 genomes]
rs34266766	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35484983	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56024664	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56202923	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301872	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305221	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455724	chr12:117786105-117845806	Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv560385	chr12:117786105-117845806	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9658253	PEBP1	cis	parietal	SCAN
rs9658253	RPS4Y1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117797200-117801400	Bivalent Enhancer	Fetal Brain Male	brain
2	chr12:117800000-117801400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:117800400-117801000	Enhancers	NHEK	skin
4	chr12:117800400-117801200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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