Variant report

Variant	rs26266
Chromosome Location	chr5:80040694-80040695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1650690	0.85[CEU][hapmap]
rs1650723	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1650734	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1650735	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1650736	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs245394	0.80[AMR][1000 genomes]
rs245397	0.82[AMR][1000 genomes]
rs245399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs245400	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs245403	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs245408	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs26268	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27365	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28026	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs32958	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs32994	0.81[EUR][1000 genomes]
rs33009	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs33010	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs33012	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39628	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs42290	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6151616	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs836790	1.00[CEU][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
2	nsv882231	chr5:79984714-80187929	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs26266	DHFR///LOC643509	Cis_1M	lymphoblastoid	RTeQTL
rs26266	MSH3	cis	Thyroid	GTEx
rs26266	MSH3	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79964800-80057800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:79971800-80112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:79985000-80100600	Weak transcription	Brain Germinal Matrix	brain
4	chr5:79998600-80051000	Weak transcription	Fetal Brain Male	brain
5	chr5:79998800-80109400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:80004000-80050400	Weak transcription	NHDF-Ad	bronchial
7	chr5:80016200-80043600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:80016400-80050800	Weak transcription	Psoas Muscle	Psoas
9	chr5:80020200-80043600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:80022800-80041400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:80022800-80051200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:80023000-80041400	Weak transcription	Fetal Brain Female	brain
13	chr5:80023000-80043000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:80023000-80043200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:80024000-80041400	Weak transcription	NH-A	brain
16	chr5:80024200-80046800	Weak transcription	Brain Angular Gyrus	brain
17	chr5:80024400-80043400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:80026000-80042000	Weak transcription	GM12878-XiMat	blood
19	chr5:80032400-80045400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr5:80032800-80043600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:80033200-80051400	Weak transcription	HMEC	breast
22	chr5:80034200-80049400	Strong transcription	Primary T cells from cord blood	blood
23	chr5:80034800-80050600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:80035000-80050400	Weak transcription	Stomach Mucosa	stomach
25	chr5:80035200-80042200	Weak transcription	HSMMtube	muscle
26	chr5:80036200-80041400	Weak transcription	NHLF	lung
27	chr5:80036400-80043800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:80037000-80042400	Strong transcription	Fetal Thymus	thymus
29	chr5:80037200-80040800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:80037200-80049800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:80037200-80050600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:80037400-80042400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:80037400-80045800	Strong transcription	Liver	Liver
34	chr5:80037400-80049000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:80037400-80050600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:80037600-80044000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:80037600-80049000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:80037600-80050200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:80038200-80043000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:80038200-80044400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:80038400-80043000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:80038400-80043200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr5:80038400-80043400	Strong transcription	HSMM	muscle
44	chr5:80038400-80043600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr5:80038400-80044000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:80038400-80044200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr5:80038400-80045800	Strong transcription	Adipose Nuclei	Adipose
48	chr5:80038600-80041000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:80038600-80041000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:80038600-80042200	Strong transcription	Fetal Kidney	kidney

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