Variant report

Variant	rs16955259
Chromosome Location	chr16:81420189-81420190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1037971	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955221	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955238	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.80[MKK][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955251	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17189030	1.00[ASW][hapmap];0.87[TSI][hapmap]
rs1934	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2290949	0.86[GIH][hapmap]
rs41484544	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57170812	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58655554	0.85[EUR][1000 genomes]
rs60624976	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61096092	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7200991	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7201420	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202625	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602865	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73602873	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602876	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053778	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8054921	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8058442	0.94[EUR][1000 genomes]
rs8059072	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs16955259	OAS3	trans	brain	seeQTL
rs16955259	IFI44L	trans	brain	seeQTL
rs16955259	IFI44	trans	brain	seeQTL
rs16955259	MX1	trans	brain	seeQTL
rs16955259	STAT1	trans	brain	seeQTL
rs16955259	ISG15	trans	brain	seeQTL
rs16955259	IFITM1	trans	brain	seeQTL
rs16955259	IFIT3	trans	brain	seeQTL
rs16955259	IRF9	trans	brain	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81384200-81434600	Weak transcription	NHLF	lung
2	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
3	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
4	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
6	chr16:81397400-81426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:81400000-81427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:81406600-81423800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:81411200-81424400	Weak transcription	Colonic Mucosa	Colon
12	chr16:81411200-81428400	Weak transcription	GM12878-XiMat	blood
13	chr16:81411400-81421600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:81411400-81422600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr16:81411400-81428000	Weak transcription	Spleen	Spleen
16	chr16:81411400-81428200	Weak transcription	Stomach Mucosa	stomach
17	chr16:81411400-81429200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr16:81411400-81429600	Weak transcription	HSMM	muscle
19	chr16:81411600-81420400	Weak transcription	Right Ventricle	heart
20	chr16:81411600-81428600	Weak transcription	Fetal Kidney	kidney
21	chr16:81411600-81437400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr16:81411800-81423000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr16:81411800-81424400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:81411800-81424600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:81411800-81428200	Weak transcription	Fetal Brain Female	brain
26	chr16:81411800-81428200	Weak transcription	Osteobl	bone
27	chr16:81411800-81428600	Weak transcription	HSMMtube	muscle
28	chr16:81411800-81431000	Weak transcription	K562	blood
29	chr16:81411800-81432400	Weak transcription	A549	lung
30	chr16:81412000-81420400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:81412000-81420600	Weak transcription	Fetal Muscle Leg	muscle
32	chr16:81412000-81421600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:81412000-81421600	Weak transcription	Gastric	stomach
34	chr16:81412000-81422800	Weak transcription	NHEK	skin
35	chr16:81412000-81423000	Weak transcription	Thymus	Thymus
36	chr16:81412000-81424400	Weak transcription	Aorta	Aorta
37	chr16:81412000-81424600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:81412000-81424600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:81412000-81426200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr16:81412200-81422800	Weak transcription	Fetal Thymus	thymus
41	chr16:81412200-81424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:81412200-81425400	Weak transcription	NH-A	brain
43	chr16:81412200-81425600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:81412200-81434400	Weak transcription	Hela-S3	cervix
45	chr16:81412400-81420200	Weak transcription	Fetal Intestine Large	intestine
46	chr16:81412400-81425200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:81412400-81425600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr16:81412600-81426600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr16:81412600-81427000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:81412600-81427200	Weak transcription	NHDF-Ad	bronchial

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