Variant report

Variant	rs3790086
Chromosome Location	chr16:69887707-69887708
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11075739	0.81[ASN][1000 genomes]
rs11641899	0.85[ASN][1000 genomes]
rs12447914	0.95[ASN][1000 genomes]
rs2173714	0.85[ASN][1000 genomes]
rs34378064	0.86[ASN][1000 genomes]
rs3790085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275849	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs4341733	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs4985418	0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap]
rs4985445	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4985446	0.86[ASN][1000 genomes]
rs62051389	0.84[ASN][1000 genomes]
rs6499257	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs6499260	0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs68039170	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7193221	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs7194806	0.84[ASN][1000 genomes]
rs7202223	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs7206585	0.91[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs8057620	0.85[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8059645	0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs8063219	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs9630631	0.83[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

No data

Chromatin state (count:100 , 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	chr16:69867000-69888400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:69868000-69888800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr16:69868200-69892800	Weak transcription	A549	lung
8	chr16:69868800-69888400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr16:69873400-69888000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:69874000-69905800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr16:69874200-69889400	Weak transcription	Right Ventricle	heart
12	chr16:69875200-69890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:69875800-69888800	Strong transcription	Fetal Intestine Small	intestine
14	chr16:69876000-69895000	Weak transcription	Fetal Brain Female	brain
15	chr16:69876000-69904400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:69876000-69905800	Weak transcription	Dnd41	blood
17	chr16:69876200-69905800	Weak transcription	Brain Germinal Matrix	brain
18	chr16:69877000-69892400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr16:69877200-69892400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr16:69877600-69892200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:69879400-69891600	Weak transcription	Thymus	Thymus
22	chr16:69879600-69892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:69879800-69892200	Weak transcription	Liver	Liver
24	chr16:69879800-69892200	Weak transcription	Fetal Thymus	thymus
25	chr16:69879800-69895000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:69880400-69892200	Weak transcription	Hela-S3	cervix
27	chr16:69881600-69890200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:69882800-69894800	Weak transcription	Colonic Mucosa	Colon
29	chr16:69883000-69893200	Weak transcription	Psoas Muscle	Psoas
30	chr16:69883000-69899400	Weak transcription	NHLF	lung
31	chr16:69883200-69892600	Weak transcription	NHEK	skin
32	chr16:69883200-69893200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr16:69883200-69894400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr16:69883400-69892000	Weak transcription	Placenta	Placenta
35	chr16:69883400-69892400	Weak transcription	HSMM	muscle
36	chr16:69883400-69894800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:69883400-69899600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:69883400-69903800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:69883600-69887800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:69883600-69889000	Weak transcription	HUVEC	blood vessel
41	chr16:69883600-69889200	Weak transcription	NHDF-Ad	bronchial
42	chr16:69883600-69891600	Weak transcription	Pancreas	Pancrea
43	chr16:69883600-69892200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr16:69883600-69892800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:69883600-69904400	Weak transcription	HMEC	breast
46	chr16:69883800-69889200	Weak transcription	Left Ventricle	heart
47	chr16:69883800-69892800	Weak transcription	Fetal Muscle Leg	muscle
48	chr16:69883800-69892800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:69883800-69895200	Weak transcription	HSMMtube	muscle
50	chr16:69884000-69892400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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