Variant report

Variant	rs1805869
Chromosome Location	chr8:91043775-91043776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10109454	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1011682	0.83[EUR][1000 genomes]
rs1011683	0.84[EUR][1000 genomes]
rs10956427	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476590	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16786	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1805788	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1805793	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805796	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805801	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805802	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805806	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805807	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805808	0.83[EUR][1000 genomes]
rs1805809	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805833	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805841	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805864	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805871	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1805889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072656	0.84[EUR][1000 genomes]
rs2074593	0.83[EUR][1000 genomes]
rs2097825	0.82[EUR][1000 genomes]
rs2107466	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2189619	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2293775	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3087750	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34394839	0.82[EUR][1000 genomes]
rs34915823	0.80[EUR][1000 genomes]
rs4961165	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4961166	0.81[EUR][1000 genomes]
rs4961167	0.82[EUR][1000 genomes]
rs4961169	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6993054	0.84[EUR][1000 genomes]
rs7010210	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7011299	0.83[EUR][1000 genomes]
rs709816	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7822272	0.84[EUR][1000 genomes]
rs7822950	0.83[EUR][1000 genomes]
rs867185	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs926092	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1805869	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
3	chr8:91018600-91065400	Weak transcription	HMEC	breast
4	chr8:91019000-91057000	Weak transcription	Fetal Brain Female	brain
5	chr8:91019800-91048600	Weak transcription	K562	blood
6	chr8:91027600-91066800	Weak transcription	NHEK	skin
7	chr8:91029400-91066000	Weak transcription	HUVEC	blood vessel
8	chr8:91030000-91049600	Weak transcription	Small Intestine	intestine
9	chr8:91030000-91057400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:91032000-91049000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:91032000-91050800	Weak transcription	Esophagus	oesophagus
12	chr8:91032000-91050800	Weak transcription	NHDF-Ad	bronchial
13	chr8:91032000-91051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:91032000-91057000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:91032000-91064000	Weak transcription	Fetal Brain Male	brain
16	chr8:91032000-91064800	Weak transcription	NHLF	lung
17	chr8:91032200-91051400	Weak transcription	Brain Substantia Nigra	brain
18	chr8:91032200-91057400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:91032400-91049200	Weak transcription	Brain Angular Gyrus	brain
20	chr8:91032400-91049200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:91032400-91051200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:91032400-91054400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:91032600-91049200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:91033000-91049600	Weak transcription	Fetal Intestine Small	intestine
25	chr8:91033000-91049600	Weak transcription	Fetal Stomach	stomach
26	chr8:91033600-91045600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:91033800-91064400	Weak transcription	NH-A	brain
28	chr8:91034200-91056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:91034600-91049000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:91034800-91048600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:91034800-91049200	Weak transcription	Placenta	Placenta
32	chr8:91035000-91049000	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:91035000-91057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:91035400-91048600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:91035400-91057600	Weak transcription	Gastric	stomach
36	chr8:91035800-91048200	Weak transcription	Fetal Lung	lung
37	chr8:91035800-91048400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:91035800-91049200	Weak transcription	Osteobl	bone
39	chr8:91036200-91049000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:91036200-91049200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:91039600-91046600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr8:91040000-91044200	Strong transcription	Dnd41	blood
43	chr8:91040000-91046400	Strong transcription	Primary B cells from cord blood	blood
44	chr8:91040200-91046400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:91040200-91059200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:91040400-91045000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:91040800-91057000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:91041200-91057400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr8:91041400-91046400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr8:91041400-91058800	Strong transcription	Primary T cells fromperipheralblood	blood

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