Variant report

Variant	rs16945483
Chromosome Location	chr16:47703607-47703608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16945398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945402	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945540	1.00[AMR][1000 genomes]
rs1985323	1.00[AMR][1000 genomes]
rs4324153	1.00[AMR][1000 genomes]
rs7200023	1.00[AMR][1000 genomes]
rs7204738	1.00[AMR][1000 genomes]
rs8044898	0.94[AFR][1000 genomes]
rs8049167	0.86[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs8054041	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8057350	1.00[AMR][1000 genomes]
rs8058843	1.00[AMR][1000 genomes]
rs8061091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8063586	1.00[AMR][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	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	27 gene(s)	inside rSNPs	diseases
3	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1056126	chr16:47658705-47738655	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3340795	chr16:47703048-47703619	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47626600-47724600	Weak transcription	Small Intestine	intestine
2	chr16:47661200-47709200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr16:47666200-47729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:47671000-47710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:47678200-47735000	Weak transcription	Fetal Brain Male	brain
6	chr16:47678400-47722800	Weak transcription	NHDF-Ad	bronchial
7	chr16:47678400-47730800	Weak transcription	NH-A	brain
8	chr16:47678600-47733200	Weak transcription	NHLF	lung
9	chr16:47680600-47711600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr16:47681400-47710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:47683400-47710800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:47685000-47717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:47685600-47730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:47688200-47710800	Weak transcription	Fetal Thymus	thymus
15	chr16:47688200-47727000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:47688200-47727200	Weak transcription	Hela-S3	cervix
17	chr16:47689600-47711600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr16:47690200-47704200	Strong transcription	Adipose Nuclei	Adipose
19	chr16:47690400-47703800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr16:47692200-47709000	Weak transcription	Pancreas	Pancrea
21	chr16:47693000-47710600	Weak transcription	Fetal Heart	heart
22	chr16:47693600-47709400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:47694600-47705000	Strong transcription	Left Ventricle	heart
24	chr16:47694600-47705800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:47695200-47709000	Weak transcription	Right Ventricle	heart
26	chr16:47695200-47709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:47695200-47709400	Weak transcription	Psoas Muscle	Psoas
28	chr16:47695200-47710600	Weak transcription	Brain Angular Gyrus	brain
29	chr16:47695400-47708600	Weak transcription	Gastric	stomach
30	chr16:47695400-47710200	Weak transcription	Brain Hippocampus Middle	brain
31	chr16:47695600-47709400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:47695800-47709200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:47695800-47709200	Weak transcription	Fetal Brain Female	brain
34	chr16:47695800-47709400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr16:47695800-47710400	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:47695800-47727200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr16:47695800-47735000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr16:47696000-47708000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr16:47696000-47708000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr16:47696000-47708600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:47696000-47708600	Weak transcription	Spleen	Spleen
42	chr16:47696000-47709000	Weak transcription	Colonic Mucosa	Colon
43	chr16:47696000-47709000	Weak transcription	Ovary	ovary
44	chr16:47696000-47709600	Weak transcription	HSMM	muscle
45	chr16:47696000-47710400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:47696000-47710400	Weak transcription	Brain Substantia Nigra	brain
47	chr16:47696000-47727800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:47696000-47730200	Weak transcription	NHEK	skin
49	chr16:47696000-47737800	Weak transcription	HMEC	breast
50	chr16:47696200-47708400	Weak transcription	GM12878-XiMat	blood

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