Variant report

Variant	rs4899323
Chromosome Location	chr14:70530101-70530102
allele	C/T
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	EP300	chr14:70530091-70533156	SK-N-SH	brain:	n/a	chr14:70530713-70530727

Variant related genes	Relation type
SLC8A3	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1009256	0.91[CHB][hapmap]
rs10142899	0.84[CHD][hapmap]
rs10873226	0.95[CHB][hapmap];0.98[CHD][hapmap]
rs11158830	0.91[CHB][hapmap]
rs1122271	0.84[CHD][hapmap]
rs11629291	0.82[CHD][hapmap]
rs11850085	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs12435324	0.86[JPT][hapmap]
rs12436004	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs12586172	0.95[CHB][hapmap]
rs12589441	0.95[CHB][hapmap];0.98[CHD][hapmap]
rs12590573	0.95[CHB][hapmap]
rs12883784	0.95[CHB][hapmap];0.98[CHD][hapmap]
rs12883875	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs12883884	0.81[CHD][hapmap]
rs12884186	0.95[CHB][hapmap];0.98[CHD][hapmap]
rs12888543	0.95[CHB][hapmap]
rs12889279	0.91[CHB][hapmap]
rs12890130	0.91[CHB][hapmap]
rs1459707	0.88[ASN][1000 genomes]
rs149250	0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[ASN][1000 genomes]
rs149595	0.83[ASN][1000 genomes]
rs150942	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs150946	0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[ASN][1000 genomes]
rs150954	0.87[ASN][1000 genomes]
rs150955	0.85[ASN][1000 genomes]
rs150956	0.87[ASN][1000 genomes]
rs17107768	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs178921	0.95[CHB][hapmap]
rs178923	0.85[ASN][1000 genomes]
rs1958184	0.95[CHB][hapmap]
rs2169074	0.95[CHB][hapmap];0.98[CHD][hapmap]
rs2839867	0.84[CHD][hapmap]
rs4144997	0.91[CHB][hapmap]
rs4899324	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs4899325	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902771	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902772	0.89[ASN][1000 genomes]
rs4902776	0.95[CHB][hapmap]
rs57170277	0.87[ASN][1000 genomes]
rs57898302	0.90[ASN][1000 genomes]
rs6573922	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs7142759	0.84[CHD][hapmap]
rs7148389	0.91[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7161555	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs8006790	0.85[ASN][1000 genomes]
rs8006924	0.91[CHB][hapmap]
rs8013012	0.88[ASN][1000 genomes]
rs8015112	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs998919	0.84[CHD][hapmap]

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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70512800-70535600	Weak transcription	Psoas Muscle	Psoas
2	chr14:70514600-70531200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:70526400-70549000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:70527000-70534600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:70528600-70530600	Weak transcription	Hela-S3	cervix
6	chr14:70529400-70530600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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