Variant report

Variant	rs71636272
Chromosome Location	chr5:80697366-80697367
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10746	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13154229	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13155027	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13155682	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13162911	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13176170	0.82[EUR][1000 genomes]
rs13185752	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13186206	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13190050	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13190332	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17230425	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17230796	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17296290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2059892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162974	0.81[EUR][1000 genomes]
rs33989062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34094852	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34442739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34513795	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34588330	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34594743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34955738	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35003041	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35367896	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35399912	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35626276	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35657180	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3764985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4703521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4703522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703524	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4703525	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4703834	0.82[EUR][1000 genomes]
rs4703835	0.82[EUR][1000 genomes]
rs4703837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5005446	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs723046	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80690600-80702800	Weak transcription	Fetal Brain Female	brain
2	chr5:80693200-80703400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:80693400-80703600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:80693400-80721600	Weak transcription	Fetal Brain Male	brain
5	chr5:80693600-80704000	Weak transcription	NHLF	lung
6	chr5:80693800-80697600	Weak transcription	Liver	Liver
7	chr5:80693800-80703000	Weak transcription	Primary T cells from cord blood	blood
8	chr5:80693800-80714600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:80694000-80704400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:80694800-80707800	Weak transcription	Dnd41	blood
11	chr5:80694800-80722400	Weak transcription	Aorta	Aorta
12	chr5:80695000-80703000	Weak transcription	Fetal Thymus	thymus
13	chr5:80695400-80716000	Weak transcription	Brain Angular Gyrus	brain
14	chr5:80695600-80697400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:80695800-80697400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:80696400-80697400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:80696800-80703200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:80697000-80697400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:80697000-80697400	Enhancers	Fetal Muscle Trunk	muscle
20	chr5:80697200-80697400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:80697200-80697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:80697200-80739600	Weak transcription	Left Ventricle	heart

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