Variant report

Variant	rs150955
Chromosome Location	chr14:70531595-70531596
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	chr14:70530570-70532180	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr14:70531560-70531710	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr14:70530091-70533156	SK-N-SH	brain:	n/a	chr14:70530713-70530727

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70524352..70526169-chr14:70530290..70533211,2	MCF-7	breast:

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]
rs1009256	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10873226	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11158830	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11850085	0.87[ASN][1000 genomes]
rs12586172	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12589441	0.89[ASN][1000 genomes]
rs12590573	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12883784	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12883875	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12884186	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12888543	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12889279	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12890130	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1459707	0.96[ASN][1000 genomes]
rs149250	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs149595	0.94[ASN][1000 genomes]
rs150942	0.90[ASN][1000 genomes]
rs150946	0.94[ASN][1000 genomes]
rs150954	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs150956	0.98[ASN][1000 genomes]
rs17107768	0.87[ASN][1000 genomes]
rs178921	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs178923	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1958184	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2169074	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4144997	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4899323	0.85[ASN][1000 genomes]
rs4899324	0.89[ASN][1000 genomes]
rs4902771	0.85[ASN][1000 genomes]
rs4902772	0.96[ASN][1000 genomes]
rs4902775	0.87[ASN][1000 genomes]
rs4902776	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57170277	0.95[ASN][1000 genomes]
rs6573922	0.87[ASN][1000 genomes]
rs6573924	0.87[ASN][1000 genomes]
rs7161555	0.88[ASN][1000 genomes]
rs8006790	0.93[ASN][1000 genomes]
rs8006924	0.87[ASN][1000 genomes]
rs8013012	0.89[ASN][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70512800-70535600	Weak transcription	Psoas Muscle	Psoas
2	chr14:70526400-70549000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:70527000-70534600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:70530600-70532000	Enhancers	Fetal Brain Male	brain
5	chr14:70530600-70548800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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