Variant report

Variant	rs12882693
Chromosome Location	chr14:70656838-70656839
allele	A/G
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	0.87[EUR][1000 genomes]
rs10137313	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10141251	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10144989	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10145919	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10147630	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11158843	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11158844	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11623847	0.83[EUR][1000 genomes]
rs11846947	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11851232	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12888540	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1467688	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1559714	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1571376	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1958186	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2182973	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28547335	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34658799	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35406991	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35814863	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4899337	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899342	0.85[EUR][1000 genomes]
rs4902797	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4902799	0.81[AMR][1000 genomes]
rs4902801	0.85[EUR][1000 genomes]
rs61978252	0.81[ASN][1000 genomes]
rs61979503	0.85[EUR][1000 genomes]
rs6573935	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6650511	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7141105	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7141597	0.81[EUR][1000 genomes]
rs7154186	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7155673	0.85[EUR][1000 genomes]
rs74062858	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8003306	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8015463	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8017251	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8017375	0.85[AMR][1000 genomes];0.87[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70655000-70657000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:70655800-70657200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:70656000-70657200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:70656000-70657200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:70656200-70657200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:70656200-70657200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:70656200-70657200	Bivalent/Poised TSS	Right Ventricle	heart
8	chr14:70656400-70657000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr14:70656400-70657200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:70656400-70657200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr14:70656400-70657200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:70656400-70657200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr14:70656400-70657400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr14:70656400-70657400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr14:70656400-70657400	Bivalent Enhancer	Fetal Brain Male	brain
16	chr14:70656400-70688400	Weak transcription	Psoas Muscle	Psoas
17	chr14:70656600-70657000	Bivalent Enhancer	Fetal Heart	heart
18	chr14:70656600-70657000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr14:70656600-70657000	Enhancers	HSMMtube	muscle
20	chr14:70656600-70657200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
21	chr14:70656600-70657200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:70656600-70657200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:70656800-70657000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr14:70656800-70657000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
25	chr14:70656800-70657000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr14:70656800-70657200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr14:70656800-70657200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr14:70656800-70657200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr14:70656800-70657600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr14:70656800-70658000	Enhancers	Primary hematopoietic stem cells	blood

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