Variant report

Variant	rs4985446
Chromosome Location	chr16:69880293-69880294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11075738	0.89[ASN][1000 genomes]
rs11075739	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11641899	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11643817	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11645565	0.85[EUR][1000 genomes]
rs12447095	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12447914	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2173714	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34378064	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790085	0.86[ASN][1000 genomes]
rs3790086	0.86[ASN][1000 genomes]
rs4275849	0.89[ASN][1000 genomes]
rs4341733	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985374	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4985418	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985445	0.95[ASN][1000 genomes]
rs60941540	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62051384	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62051387	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62051389	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6499257	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6499260	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68039170	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7193221	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7194806	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7196917	0.85[EUR][1000 genomes]
rs7202223	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7206585	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8044920	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8052428	0.90[EUR][1000 genomes]
rs8057620	0.82[ASN][1000 genomes]
rs8059645	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8063219	0.89[ASN][1000 genomes]
rs9630631	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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:115 , 50 per page) page: 1 2 3

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	chr16:69865000-69887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:69865600-69881600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:69867000-69888400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr16:69867400-69881800	Weak transcription	NHDF-Ad	bronchial
9	chr16:69867800-69881800	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:69868000-69881800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:69868000-69885000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:69868000-69888800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr16:69868200-69880600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr16:69868200-69881800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr16:69868200-69884800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:69868200-69885400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:69868200-69892800	Weak transcription	A549	lung
18	chr16:69868800-69888400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr16:69871200-69884600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr16:69871200-69885000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr16:69871400-69883200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr16:69871600-69882800	Strong transcription	Primary T cells from cord blood	blood
23	chr16:69873400-69888000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:69874000-69882400	Weak transcription	NH-A	brain
25	chr16:69874000-69883000	Weak transcription	HMEC	breast
26	chr16:69874000-69905800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr16:69874200-69882000	Weak transcription	Fetal Lung	lung
28	chr16:69874200-69889400	Weak transcription	Right Ventricle	heart
29	chr16:69874400-69881600	Weak transcription	Psoas Muscle	Psoas
30	chr16:69874400-69881600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr16:69874600-69880600	Strong transcription	Fetal Stomach	stomach
32	chr16:69874600-69881800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:69874600-69882000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr16:69874800-69887200	Weak transcription	Aorta	Aorta
35	chr16:69875000-69882400	Weak transcription	HSMMtube	muscle
36	chr16:69875200-69881800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:69875200-69882000	Weak transcription	HUVEC	blood vessel
38	chr16:69875200-69882600	Weak transcription	HSMM	muscle
39	chr16:69875200-69890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr16:69875400-69882000	Weak transcription	Colonic Mucosa	Colon
41	chr16:69875800-69881400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr16:69875800-69881600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr16:69875800-69881800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr16:69875800-69882000	Weak transcription	Right Atrium	heart
45	chr16:69875800-69882400	Weak transcription	Brain Angular Gyrus	brain
46	chr16:69875800-69886000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr16:69875800-69888800	Strong transcription	Fetal Intestine Small	intestine
48	chr16:69876000-69881600	Weak transcription	Fetal Muscle Leg	muscle
49	chr16:69876000-69881800	Weak transcription	Brain Substantia Nigra	brain
50	chr16:69876000-69881800	Weak transcription	Left Ventricle	heart

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