Variant report

Variant	rs16955238
Chromosome Location	chr16:81415691-81415692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81409982..81413670-chr16:81414350..81417251,3	K562	blood:
2	chr16:81409751..81411946-chr16:81415475..81417498,3	MCF-7	breast:
3	chr16:81406782..81409533-chr16:81410750..81415931,4	K562	blood:
4	chr16:81409982..81414172-chr16:81414350..81416327,5	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1037971	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863508	1.00[JPT][hapmap]
rs12599564	1.00[MEX][hapmap]
rs16955221	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955251	1.00[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955255	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955259	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17189030	1.00[MEX][hapmap]
rs1934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2290949	0.86[GIH][hapmap]
rs41484544	1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57170812	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58655554	0.85[EUR][1000 genomes]
rs60624976	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61096092	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7200991	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7201420	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202625	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586406	0.91[AFR][1000 genomes]
rs73602865	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73602873	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053778	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8054921	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8058442	0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs8059072	1.00[CEU][hapmap];0.92[AFR][1000 genomes];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
rs16955238	IFI44	trans	brain	seeQTL
rs16955238	ISG15	trans	brain	seeQTL
rs16955238	STAT1	trans	brain	seeQTL
rs16955238	IFI44L	trans	brain	seeQTL
rs16955238	OAS3	trans	brain	seeQTL
rs16955238	IFIT3	trans	brain	seeQTL
rs16955238	IRF9	trans	brain	seeQTL
rs16955238	MX1	trans	brain	seeQTL
rs16955238	IFITM1	trans	brain	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81382400-81418400	Weak transcription	Small Intestine	intestine
2	chr16:81384200-81434600	Weak transcription	NHLF	lung
3	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
4	chr16:81385600-81418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
6	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:81391200-81417600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
9	chr16:81397400-81426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr16:81399000-81417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:81400000-81427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:81402200-81418000	Weak transcription	Brain Germinal Matrix	brain
15	chr16:81404400-81417200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr16:81405200-81418400	Weak transcription	Right Atrium	heart
17	chr16:81406600-81423800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr16:81409400-81415800	Strong transcription	Primary T cells from cord blood	blood
19	chr16:81409800-81415800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr16:81411200-81415800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:81411200-81424400	Weak transcription	Colonic Mucosa	Colon
22	chr16:81411200-81428400	Weak transcription	GM12878-XiMat	blood
23	chr16:81411400-81416400	Weak transcription	HUVEC	blood vessel
24	chr16:81411400-81417000	Weak transcription	Ovary	ovary
25	chr16:81411400-81418200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr16:81411400-81418400	Weak transcription	Lung	lung
27	chr16:81411400-81419200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:81411400-81421600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:81411400-81422600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr16:81411400-81428000	Weak transcription	Spleen	Spleen
31	chr16:81411400-81428200	Weak transcription	Stomach Mucosa	stomach
32	chr16:81411400-81429200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr16:81411400-81429600	Weak transcription	HSMM	muscle
34	chr16:81411600-81417400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr16:81411600-81418400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr16:81411600-81420400	Weak transcription	Right Ventricle	heart
37	chr16:81411600-81428600	Weak transcription	Fetal Kidney	kidney
38	chr16:81411600-81437400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr16:81411800-81416000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:81411800-81417200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:81411800-81417200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:81411800-81417400	Weak transcription	Brain Anterior Caudate	brain
43	chr16:81411800-81419000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr16:81411800-81423000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr16:81411800-81424400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr16:81411800-81424600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:81411800-81428200	Weak transcription	Fetal Brain Female	brain
48	chr16:81411800-81428200	Weak transcription	Osteobl	bone
49	chr16:81411800-81428600	Weak transcription	HSMMtube	muscle
50	chr16:81411800-81431000	Weak transcription	K562	blood

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