Variant report

Variant	rs34418807
Chromosome Location	chr8:54165372-54165373
allele	C/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	chr8:54165371-54165421	H1-hESC	embryonic stem cell:	embryo
2	chr8:54165371-54165421	HAEpiC	amniotic membrane:	n/a
3	chr8:54165371-54165421	HCF	heart:	n/a
4	chr8:54165371-54165421	HEK293	kidney:	embryo
5	chr8:54165371-54165421	AG09319	gingival:	n/a
6	chr8:54165371-54165421	HPAEpiC	pulmonary alveolar:	n/a
7	chr8:54165371-54165421	GM06990	blood:	n/a
8	chr8:54165371-54165421	SK-N-SH	brain:	n/a
9	chr8:54165371-54165421	IMR90	lung:	fetal
10	chr8:54165371-54165421	SKMC	muscle:	n/a
11	chr8:54165371-54165421	U87	brain:	n/a
12	chr8:54165371-54165421	BE2_C	brain:	n/a
13	chr8:54165371-54165421	HepG2	liver:	n/a
14	chr8:54165371-54165421	PANC-1	pancreas:	n/a
15	chr8:54165371-54165421	ECC-1	luminal epithelium:	n/a
16	chr8:54165371-54165421	HCT-116	colon:	n/a
17	chr8:54165371-54165421	HEEpiC	esophagus:	n/a
18	chr8:54165371-54165421	A549	lung:	n/a
19	chr8:54165371-54165421	PrEC	prostate:	n/a
20	chr8:54165371-54165421	AoSMC	blood vessel:	n/a
21	chr8:54165371-54165421	HL-60	blood:	n/a
22	chr8:54165371-54165421	LNCaP	prostate:	n/a
23	chr8:54165371-54165421	RPTEC	kidney:	n/a
24	chr8:54165371-54165421	HIPEpiC	eye:	n/a
25	chr8:54165371-54165421	Hepatocyte	liver:	n/a
26	chr8:54165371-54165421	AG04450	lung:	fetal
27	chr8:54165371-54165421	HUVEC	blood vessel:	n/a
28	chr8:54165371-54165421	HRPEpiC	eye:	n/a
29	chr8:54165371-54165421	SAEC	small airway:	n/a
30	chr8:54165371-54165421	PFSK-1	brain:	n/a
31	chr8:54165371-54165421	AG10803	skin:	n/a
32	chr8:54165371-54165421	GM12878	blood:	n/a
33	chr8:54165371-54165421	HNPCEpiC	eye:	n/a
34	chr8:54165371-54165421	NHBE	bronchial:	n/a
35	chr8:54165371-54165421	SK-N-SH_RA	brain:	n/a
36	chr8:54165371-54165421	BJ	skin:	n/a
37	chr8:54165371-54165421	Hela-S3	cervix:	n/a
38	chr8:54165371-54165421	HRE	kidney:	n/a
39	chr8:54165371-54165421	K562	blood:	n/a
40	chr8:54165371-54165421	HMEC	breast:	n/a
41	chr8:54165371-54165421	GM12891	blood:	n/a
42	chr8:54165371-54165421	Caco-2	colon:	n/a
43	chr8:54165371-54165421	NT2-D1	testis:	n/a
44	chr8:54165371-54165421	GM19239	blood:	n/a
45	chr8:54165371-54165421	MCF10A-Er-Src	breast:	n/a
46	chr8:54165371-54165421	GM12892	blood:	n/a
47	chr8:54165371-54165421	HCPEpiC	choroid plexus:	n/a
48	chr8:54165371-54165421	NH-A	brain:	n/a
49	chr8:54165371-54165421	AG04449	skin:	fetal
50	chr8:54165371-54165421	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
OPRK1	CpG island

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs16918832	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918875	1.00[EUR][1000 genomes]
rs16918900	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57537478	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57796760	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58121794	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58534275	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58861077	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60521056	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60721705	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61410012	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473814	0.82[AMR][1000 genomes]
rs6988508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996658	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7016275	1.00[EUR][1000 genomes]
rs73585649	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73585658	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586457	0.82[AMR][1000 genomes]
rs73586486	0.82[AMR][1000 genomes]
rs73586489	0.82[AMR][1000 genomes]
rs73588541	0.82[AMR][1000 genomes]
rs73589347	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589385	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601364	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601368	1.00[EUR][1000 genomes]
rs73602836	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602840	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602841	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602860	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679682	1.00[EUR][1000 genomes]
rs7462780	0.82[AMR][1000 genomes]
rs7816233	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822011	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822111	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829470	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832039	0.93[EUR][1000 genomes]
rs7839445	0.83[AMR][1000 genomes];1.00[EUR][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	nsv1016224	chr8:53719941-54367534	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530534	chr8:53787984-54367353	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3377304	chr8:53873441-54380875	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54163400-54165400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:54164600-54165400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:54164600-54165400	Bivalent Enhancer	Placenta	Placenta
4	chr8:54164600-54165400	Weak transcription	Right Atrium	heart
5	chr8:54164600-54165600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:54164600-54166000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:54165000-54165400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:54165200-54165400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr8:54165200-54165400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:54165200-54165800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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