Variant report

Variant	rs8047194
Chromosome Location	chr16:69891510-69891511
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10852460	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10852461	0.86[ASN][1000 genomes]
rs11075742	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11075744	0.88[ASN][1000 genomes]
rs1116544	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11642008	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11645565	0.86[AMR][1000 genomes]
rs11648348	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12927168	0.81[EUR][1000 genomes]
rs1466863	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1500337	0.90[ASN][1000 genomes]
rs1566453	0.86[ASN][1000 genomes]
rs1566454	0.90[ASN][1000 genomes]
rs1566456	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2133799	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2362642	0.86[ASN][1000 genomes]
rs3790075	0.90[ASN][1000 genomes]
rs3790076	0.90[ASN][1000 genomes]
rs3790080	0.90[ASN][1000 genomes]
rs3790082	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3790083	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985447	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985448	0.90[ASN][1000 genomes]
rs4985449	0.90[ASN][1000 genomes]
rs4985450	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55887947	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499263	0.96[ASN][1000 genomes]
rs6499265	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6499268	0.90[ASN][1000 genomes]
rs7190013	0.90[ASN][1000 genomes]
rs7196917	0.87[AMR][1000 genomes]
rs7200258	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7202233	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047682	0.86[ASN][1000 genomes]
rs8048550	0.98[ASN][1000 genomes]
rs8049373	0.86[ASN][1000 genomes]
rs8050414	0.88[ASN][1000 genomes]
rs8050516	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8051168	0.94[ASN][1000 genomes]
rs8060478	0.86[ASN][1000 genomes]
rs8063226	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9927967	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9936589	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9936723	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8047194	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:69834200-69892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr16:69837000-69905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:69852000-69893200	Weak transcription	K562	blood
5	chr16:69868200-69892800	Weak transcription	A549	lung
6	chr16:69874000-69905800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:69876000-69895000	Weak transcription	Fetal Brain Female	brain
8	chr16:69876000-69904400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:69876000-69905800	Weak transcription	Dnd41	blood
10	chr16:69876200-69905800	Weak transcription	Brain Germinal Matrix	brain
11	chr16:69877000-69892400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr16:69877200-69892400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr16:69877600-69892200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:69879400-69891600	Weak transcription	Thymus	Thymus
15	chr16:69879600-69892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:69879800-69892200	Weak transcription	Liver	Liver
17	chr16:69879800-69892200	Weak transcription	Fetal Thymus	thymus
18	chr16:69879800-69895000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:69880400-69892200	Weak transcription	Hela-S3	cervix
20	chr16:69882800-69894800	Weak transcription	Colonic Mucosa	Colon
21	chr16:69883000-69893200	Weak transcription	Psoas Muscle	Psoas
22	chr16:69883000-69899400	Weak transcription	NHLF	lung
23	chr16:69883200-69892600	Weak transcription	NHEK	skin
24	chr16:69883200-69893200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr16:69883200-69894400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr16:69883400-69892000	Weak transcription	Placenta	Placenta
27	chr16:69883400-69892400	Weak transcription	HSMM	muscle
28	chr16:69883400-69894800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:69883400-69899600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:69883400-69903800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:69883600-69891600	Weak transcription	Pancreas	Pancrea
32	chr16:69883600-69892200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr16:69883600-69892800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:69883600-69904400	Weak transcription	HMEC	breast
35	chr16:69883800-69892800	Weak transcription	Fetal Muscle Leg	muscle
36	chr16:69883800-69892800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:69883800-69895200	Weak transcription	HSMMtube	muscle
38	chr16:69884000-69892400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:69884600-69892200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr16:69885200-69895600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr16:69885400-69894200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr16:69886200-69892200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr16:69886200-69892400	Weak transcription	Ovary	ovary
44	chr16:69887400-69894000	Weak transcription	Aorta	Aorta
45	chr16:69887600-69901400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:69887800-69892200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:69887800-69893400	Weak transcription	Brain Anterior Caudate	brain
48	chr16:69887800-69894000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:69887800-69894200	Weak transcription	Brain Angular Gyrus	brain
50	chr16:69888000-69891600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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