Variant report

Variant	rs34442739
Chromosome Location	chr5:80703573-80703574
allele	A/T
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]
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]
rs71636272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80693400-80703600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:80693400-80721600	Weak transcription	Fetal Brain Male	brain
3	chr5:80693600-80704000	Weak transcription	NHLF	lung
4	chr5:80693800-80714600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:80694000-80704400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:80694800-80707800	Weak transcription	Dnd41	blood
7	chr5:80694800-80722400	Weak transcription	Aorta	Aorta
8	chr5:80695400-80716000	Weak transcription	Brain Angular Gyrus	brain
9	chr5:80697200-80739600	Weak transcription	Left Ventricle	heart
10	chr5:80697400-80703800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:80697400-80716000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:80698200-80716000	Weak transcription	Thymus	Thymus
13	chr5:80698400-80704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:80698600-80705000	Weak transcription	Fetal Intestine Large	intestine
15	chr5:80700200-80715000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:80700400-80703800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:80700400-80712400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:80701200-80704000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:80701400-80703800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:80701400-80704400	Weak transcription	Fetal Kidney	kidney
21	chr5:80701600-80715800	Weak transcription	Brain Anterior Caudate	brain
22	chr5:80701600-80715800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:80701800-80722000	Weak transcription	Ovary	ovary
24	chr5:80702000-80716000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:80702200-80733600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:80702400-80715800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:80703000-80704600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:80703000-80705600	Strong transcription	Fetal Thymus	thymus
29	chr5:80703000-80705800	Strong transcription	Primary T cells from cord blood	blood
30	chr5:80703000-80706000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:80703200-80704800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr5:80703200-80714000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:80703200-80714000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:80703400-80703600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:80703400-80704000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:80703400-80716000	Weak transcription	Fetal Brain Female	brain

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