Variant report

Variant	rs451048
Chromosome Location	chr13:93858060-93858061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93855392..93860776-chr13:93863717..93866465,4	K562	blood:
2	chr13:92991818..92993645-chr13:93857308..93859420,2	K562	blood:
3	chr13:93856789..93859463-chr13:93864470..93867026,2	K562	blood:

Variant related genes	Relation type
ENSG00000232885	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1413066	0.86[AFR][1000 genomes]
rs1413067	0.86[AFR][1000 genomes]
rs16948474	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1760330	0.86[AFR][1000 genomes]
rs1810933	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1855274	0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1855275	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs223307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2388917	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2780374	0.95[AFR][1000 genomes]
rs2780381	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2780382	0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2781035	0.86[AFR][1000 genomes]
rs2781051	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2781052	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319517	0.83[AMR][1000 genomes]
rs319518	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319520	0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319521	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320071	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320072	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs320075	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320076	0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320078	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320079	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320080	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320081	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs364631	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs366378	0.94[AFR][1000 genomes]
rs367924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs368555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs371381	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs372160	0.86[AFR][1000 genomes]
rs374389	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376830	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs376851	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs380416	0.86[AFR][1000 genomes]
rs380786	0.86[AFR][1000 genomes]
rs381662	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs385054	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs387992	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs389587	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs390904	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs394973	0.86[AFR][1000 genomes]
rs397442	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs415326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs417537	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs417815	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs418948	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs420913	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs421381	0.81[AFR][1000 genomes]
rs421861	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs425257	0.86[AFR][1000 genomes]
rs425955	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426342	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426397	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs426787	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs427399	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs427409	0.86[AFR][1000 genomes]
rs427503	0.86[AFR][1000 genomes]
rs428015	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs4300492	0.81[AFR][1000 genomes]
rs431476	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs432632	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs432800	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs433129	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs433135	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437435	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437703	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437913	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs438139	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs439216	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs443603	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs444365	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs448518	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs450509	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs450732	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs454092	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475566	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489911	0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs489934	0.86[AFR][1000 genomes]
rs521884	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs549385	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7330458	0.86[AFR][1000 genomes]
rs914865	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs914866	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832682	chr13:93700861-93874801	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv900914	chr13:93814026-93858612	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv900915	chr13:93814026-93861348	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv900916	chr13:93814026-93869041	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv900917	chr13:93816293-93858612	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv900918	chr13:93816293-93861348	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93856800-93866600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:93858000-93860600	Weak transcription	Right Atrium	heart

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