Variant report

Variant	rs8012405
Chromosome Location	chr14:70706260-70706261
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10137139	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144306	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11850014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1364963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1364966	0.88[AFR][1000 genomes]
rs1425615	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1425616	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1465498	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1469252	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1571371	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1571372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1958187	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2094543	0.81[AFR][1000 genomes]
rs2194881	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2296918	0.81[AFR][1000 genomes]
rs4899338	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899339	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902794	0.84[AFR][1000 genomes]
rs4902800	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902802	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6573940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6573945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147173	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7149495	0.82[AFR][1000 genomes]
rs7149733	0.98[AFR][1000 genomes]
rs7150899	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153452	0.84[AFR][1000 genomes]
rs8018296	0.93[AFR][1000 genomes]
rs8018633	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8020558	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70697400-70719400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:70701800-70721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70704400-70706400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:70705600-70706400	Enhancers	K562	blood
5	chr14:70706000-70706400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr14:70706000-70706400	Enhancers	GM12878-XiMat	blood
7	chr14:70706000-70706800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70706200-70706400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr14:70706200-70706400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr14:70706200-70706600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:70706200-70706600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr14:70706200-70706600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:70706200-70706800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr14:70706200-70707000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:70706200-70707000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr14:70706200-70707200	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links