Variant report

Variant	rs16899413
Chromosome Location	chr5:29795385-29795386
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	chr5:29795198-29795813	A549	lung:	n/a	chr5:29795705-29795714
2	GATA1	chr5:29795340-29797051	PBDE	blood:	n/a	chr5:29796378-29796387 chr5:29796684-29796695 chr5:29796004-29796025
3	MAFF	chr5:29795379-29795721	K562	blood:	n/a	n/a
4	MAFK	chr5:29795377-29795698	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250984	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10520952	0.94[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes]
rs10805537	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10940816	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10940817	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10940827	0.88[CEU][hapmap]
rs11737948	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11745229	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11745291	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11954752	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11957760	0.81[EUR][1000 genomes]
rs12516688	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12517227	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12517273	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12523035	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs12651890	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12651934	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12656086	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1350222	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1428312	0.83[CEU][hapmap]
rs1428314	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs1456641	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1456642	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1456643	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1563510	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16899407	0.88[CEU][hapmap];0.87[AMR][1000 genomes]
rs16899416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899419	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16899422	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2019012	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2219325	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2330137	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2330138	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2330139	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2330316	0.83[CEU][hapmap]
rs2925526	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58306893	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58977762	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59897238	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61330469	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61531233	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66702955	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67126601	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6877378	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6886264	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6888568	0.85[ASN][1000 genomes]
rs6893901	0.94[ASN][1000 genomes]
rs72743255	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72743256	0.87[AMR][1000 genomes]
rs72743261	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72743275	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9292341	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016603	chr5:29102713-29843965	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv537712	chr5:29102713-29843965	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3385368	chr5:29548608-29910057	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1029329	chr5:29778216-29805002	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1026460	chr5:29785485-29814309	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	nsv1034228	chr5:29785485-29815868	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv1018046	chr5:29785776-29818396	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv1019541	chr5:29786932-29814309	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv1016811	chr5:29786932-29824596	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	esv3449184	chr5:29794985-29795480	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29794400-29796600	Enhancers	A549	lung
2	chr5:29794600-29796000	Weak transcription	K562	blood
3	chr5:29795000-29795400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:29795000-29795400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:29795000-29796600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:29795000-29797000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:29795200-29795600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:29795200-29796000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:29795200-29796600	Enhancers	Hela-S3	cervix

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