Variant report

Variant	rs8020558
Chromosome Location	chr14:70700914-70700915
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	chr14:70700886-70700936	GM12878	blood:	n/a
2	chr14:70700886-70700936	HL-60	blood:	n/a
3	chr14:70700886-70700936	NB4	blood:	n/a
4	chr14:70700886-70700936	Caco-2	colon:	n/a
5	chr14:70700886-70700936	U87	brain:	n/a
6	chr14:70700886-70700936	AG04449	skin:	fetal
7	chr14:70700886-70700936	PFSK-1	brain:	n/a
8	chr14:70700886-70700936	GM19239	blood:	n/a
9	chr14:70700886-70700936	H1-hESC	embryonic stem cell:	embryo
10	chr14:70700886-70700936	GM12892	blood:	n/a
11	chr14:70700886-70700936	HRPEpiC	eye:	n/a
12	chr14:70700886-70700936	HEK293	kidney:	embryo
13	chr14:70700886-70700936	SK-N-SH	brain:	n/a
14	chr14:70700886-70700936	HNPCEpiC	eye:	n/a
15	chr14:70700886-70700936	SKMC	muscle:	n/a
16	chr14:70700886-70700936	HCPEpiC	choroid plexus:	n/a
17	chr14:70700886-70700936	ProgFib	skin:	n/a
18	chr14:70700886-70700936	HUVEC	blood vessel:	n/a
19	chr14:70700886-70700936	HPAEpiC	pulmonary alveolar:	n/a
20	chr14:70700886-70700936	K562	blood:	n/a
21	chr14:70700886-70700936	NH-A	brain:	n/a
22	chr14:70700886-70700936	HMEC	breast:	n/a
23	chr14:70700886-70700936	AG09309	skin:	n/a
24	chr14:70700886-70700936	BJ	skin:	n/a
25	chr14:70700886-70700936	HCM	heart:	n/a
26	chr14:70700886-70700936	HepG2	liver:	n/a
27	chr14:70700886-70700936	GM12891	blood:	n/a
28	chr14:70700886-70700936	Hela-S3	cervix:	n/a
29	chr14:70700886-70700936	RPTEC	kidney:	n/a
30	chr14:70700886-70700936	SK-N-SH_RA	brain:	n/a
31	chr14:70700886-70700936	T-47D	breast:	n/a
32	chr14:70700886-70700936	NT2-D1	testis:	n/a
33	chr14:70700886-70700936	CMK	blood:	n/a
34	chr14:70700886-70700936	HCT-116	colon:	n/a
35	chr14:70700886-70700936	BE2_C	brain:	n/a
36	chr14:70700886-70700936	ECC-1	luminal epithelium:	n/a
37	chr14:70700886-70700936	IMR90	lung:	fetal
38	chr14:70700886-70700936	HAEpiC	amniotic membrane:	n/a
39	chr14:70700886-70700936	A549	lung:	n/a
40	chr14:70700886-70700936	NHBE	bronchial:	n/a
41	chr14:70700886-70700936	MCF10A-Er-Src	breast:	n/a
42	chr14:70700886-70700936	Jurkat	blood:	n/a
43	chr14:70700886-70700936	AoSMC	blood vessel:	n/a
44	chr14:70700886-70700936	HRCEpiC	kidney:	n/a
45	chr14:70700886-70700936	AG10803	skin:	n/a
46	chr14:70700886-70700936	SK-N-MC	brain:	n/a
47	chr14:70700886-70700936	Hepatocyte	liver:	n/a
48	chr14:70700886-70700936	PrEC	prostate:	n/a
49	chr14:70700886-70700936	MCF-7	breast:	n/a
50	chr14:70700886-70700936	HCF	heart:	n/a

No data

Variant related genes	Relation type
ENSG00000270610	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10137139	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11850014	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1364963	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1364966	0.87[AFR][1000 genomes]
rs1425615	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1425616	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1465498	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1469252	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1571371	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1571372	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1958187	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2194881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899338	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899339	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902793	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902794	0.83[AFR][1000 genomes]
rs4902800	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902802	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6573940	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6573945	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147173	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7149733	0.92[AFR][1000 genomes]
rs7150899	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153452	0.83[AFR][1000 genomes]
rs8012405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8018296	0.87[AFR][1000 genomes]
rs8018633	0.94[AFR][1000 genomes];1.00[AMR][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	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv983840	chr14:70696676-70714926	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70691000-70703400	Weak transcription	K562	blood
2	chr14:70697400-70719400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:70700800-70701800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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