Variant report

Variant	rs6573935
Chromosome Location	chr14:70657253-70657254
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:70653257-70657609	SK-N-SH	brain:	n/a	chr14:70654787-70654796

Variant related genes	Relation type
SLC8A3	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1000619	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10137313	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10141251	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10144989	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10145919	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10147630	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11158843	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11158844	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11623847	0.85[EUR][1000 genomes]
rs11846947	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11851232	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12882693	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12888540	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1467688	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1559714	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1571376	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1958186	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2182973	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28547335	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34658799	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35406991	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35814863	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4899337	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4899342	0.87[EUR][1000 genomes]
rs4902797	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4902799	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4902801	0.87[EUR][1000 genomes]
rs61978252	0.83[ASN][1000 genomes]
rs61979503	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6650511	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7141105	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7141597	0.82[EUR][1000 genomes]
rs7154186	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7155673	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74062858	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8003306	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8015463	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8017251	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8017375	0.85[AMR][1000 genomes];0.89[EUR][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	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70656400-70657400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
2	chr14:70656400-70657400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr14:70656400-70657400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr14:70656400-70688400	Weak transcription	Psoas Muscle	Psoas
5	chr14:70656800-70657600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr14:70656800-70658000	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:70657000-70660000	Weak transcription	HSMMtube	muscle
8	chr14:70657200-70657400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr14:70657200-70657400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr14:70657200-70657400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:70657200-70657400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
12	chr14:70657200-70659200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:70657200-70661000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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