Variant report

Variant	rs72718033
Chromosome Location	chr1:86658311-86658312
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11161752	0.83[EUR][1000 genomes]
rs11161754	0.83[EUR][1000 genomes]
rs11161755	0.83[EUR][1000 genomes]
rs11161756	0.83[EUR][1000 genomes]
rs11161757	0.83[EUR][1000 genomes]
rs11161758	0.83[EUR][1000 genomes]
rs11161759	0.83[EUR][1000 genomes]
rs11578172	0.80[EUR][1000 genomes]
rs11581251	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11581326	0.88[EUR][1000 genomes]
rs11583102	0.88[EUR][1000 genomes]
rs11583117	0.88[EUR][1000 genomes]
rs11583120	0.88[EUR][1000 genomes]
rs12072489	0.83[EUR][1000 genomes]
rs12072806	0.80[EUR][1000 genomes]
rs12074275	0.83[EUR][1000 genomes]
rs12076366	0.80[EUR][1000 genomes]
rs1336055	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414601	0.83[EUR][1000 genomes]
rs1507267	0.88[EUR][1000 genomes]
rs1507268	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1507276	0.83[EUR][1000 genomes]
rs1507282	0.83[EUR][1000 genomes]
rs1507283	0.83[EUR][1000 genomes]
rs17128866	0.80[EUR][1000 genomes]
rs2039601	0.88[EUR][1000 genomes]
rs2174768	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2279948	0.96[EUR][1000 genomes]
rs2892908	0.83[EUR][1000 genomes]
rs41287729	0.90[EUR][1000 genomes]
rs4631724	0.80[EUR][1000 genomes]
rs59694883	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660694	0.83[EUR][1000 genomes]
rs6668627	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6676847	0.88[EUR][1000 genomes]
rs6697869	0.88[EUR][1000 genomes]
rs72716183	0.80[EUR][1000 genomes]
rs72716185	0.88[EUR][1000 genomes]
rs72716190	0.83[EUR][1000 genomes]
rs72716192	0.88[EUR][1000 genomes]
rs72716194	0.83[EUR][1000 genomes]
rs72716202	0.83[EUR][1000 genomes]
rs72718016	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718019	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718023	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718037	0.96[EUR][1000 genomes]
rs7416003	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7531445	0.88[EUR][1000 genomes]
rs7536402	0.88[EUR][1000 genomes]
rs954354	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1010312	chr1:86469730-86686426	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1012467	chr1:86494935-86686426	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1009092	chr1:86532988-86724805	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535024	chr1:86532988-86724805	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv830481	chr1:86550274-86737290	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86656400-86665800	Enhancers	Fetal Lung	lung
2	chr1:86656800-86658400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:86657000-86658400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:86657600-86658400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:86658000-86659000	Weak transcription	Psoas Muscle	Psoas
6	chr1:86658000-86661000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:86658200-86658800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:86658200-86659400	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:86658200-86661600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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