Variant report

Variant	rs1993435
Chromosome Location	chr4:45648097-45648098
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10009499	0.80[AMR][1000 genomes]
rs10016628	1.00[AMR][1000 genomes]
rs10024392	0.92[EUR][1000 genomes]
rs10938410	0.91[EUR][1000 genomes]
rs1350198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1378981	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1378983	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1378984	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1378985	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1378989	0.92[EUR][1000 genomes]
rs1456491	0.80[EUR][1000 genomes]
rs1456492	0.80[EUR][1000 genomes]
rs1456497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1456499	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1456500	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1456501	0.91[EUR][1000 genomes]
rs1456502	0.94[EUR][1000 genomes]
rs1547505	0.80[AMR][1000 genomes]
rs1563479	0.92[EUR][1000 genomes]
rs1563480	0.92[EUR][1000 genomes]
rs1563481	0.92[EUR][1000 genomes]
rs1840743	0.94[EUR][1000 genomes]
rs1840744	0.92[EUR][1000 genomes]
rs1869981	0.92[EUR][1000 genomes]
rs1902505	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968749	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2085383	0.94[EUR][1000 genomes]
rs2124681	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2124682	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2168540	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2168541	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4033830	0.92[EUR][1000 genomes]
rs4033831	0.92[EUR][1000 genomes]
rs4449449	0.84[AMR][1000 genomes]
rs4513608	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4694809	0.81[EUR][1000 genomes]
rs4694810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4695128	0.89[EUR][1000 genomes]
rs6447466	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6814398	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6821525	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6825626	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6849927	0.83[EUR][1000 genomes]
rs727244	0.97[EUR][1000 genomes]
rs7661353	0.80[AMR][1000 genomes]
rs7665999	0.92[EUR][1000 genomes]
rs7670730	0.81[EUR][1000 genomes]
rs7676898	0.80[AMR][1000 genomes]
rs7682261	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7682948	0.92[EUR][1000 genomes]
rs7683028	0.80[AMR][1000 genomes]
rs7688109	0.92[EUR][1000 genomes]
rs7695342	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7696046	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9994279	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9997201	0.92[EUR][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	nsv594104	chr4:45105210-45665828	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv461353	chr4:45470453-46227847	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv470030	chr4:45470453-46227847	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594109	chr4:45470453-46227847	Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv461355	chr4:45483121-45982196	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv594111	chr4:45483121-45982196	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv594112	chr4:45503395-45756683	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv997267	chr4:45524521-45703126	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45641600-45648600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:45641800-45648200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:45647600-45649000	Enhancers	Fetal Intestine Large	intestine

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