Variant report

Variant	rs16960425
Chromosome Location	chr17:19684481-19684482
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12103837	1.00[AMR][1000 genomes]
rs16960503	0.82[AFR][1000 genomes]
rs28416178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28491526	0.95[AFR][1000 genomes]
rs28632080	0.81[AFR][1000 genomes]
rs8064668	0.89[AFR][1000 genomes]
rs8064945	1.00[AMR][1000 genomes]
rs8072354	1.00[AMR][1000 genomes]
rs9889660	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9893138	0.82[AFR][1000 genomes]
rs9895806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9897053	1.00[AMR][1000 genomes]
rs9905439	1.00[AMR][1000 genomes]
rs9905570	0.95[AFR][1000 genomes]
rs9906047	1.00[AFR][1000 genomes]
rs9906125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9906263	0.89[AFR][1000 genomes]
rs9910607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9912443	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9913673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9914597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9914797	1.00[AMR][1000 genomes]
rs9915262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9915902	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9916309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19666000-19691200	Weak transcription	Spleen	Spleen
2	chr17:19666000-19691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:19670200-19694200	Weak transcription	Right Ventricle	heart
4	chr17:19670200-19699400	Weak transcription	Psoas Muscle	Psoas
5	chr17:19673800-19685000	Weak transcription	HSMM	muscle
6	chr17:19673800-19769800	Weak transcription	NH-A	brain
7	chr17:19674000-19699200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr17:19674000-19699200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr17:19675200-19693000	Weak transcription	Small Intestine	intestine
10	chr17:19675200-19695600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:19675400-19688200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr17:19675600-19684600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:19675600-19691200	Weak transcription	Esophagus	oesophagus
14	chr17:19675600-19693600	Strong transcription	Fetal Muscle Leg	muscle
15	chr17:19676000-19691200	Weak transcription	Fetal Thymus	thymus
16	chr17:19676400-19685400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:19676400-19688000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:19676400-19688400	Strong transcription	Fetal Intestine Large	intestine
19	chr17:19676800-19691800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:19676800-19697000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:19676800-19699400	Weak transcription	Thymus	Thymus
22	chr17:19677000-19685800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:19677000-19687800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:19677000-19688000	Strong transcription	Adipose Nuclei	Adipose
25	chr17:19677200-19685000	Strong transcription	Liver	Liver
26	chr17:19677200-19685200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr17:19677200-19685800	Strong transcription	Brain Cingulate Gyrus	brain
28	chr17:19677200-19691600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:19677400-19687800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:19677400-19696200	Weak transcription	Fetal Heart	heart
31	chr17:19677600-19696200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr17:19677800-19700000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr17:19678000-19698400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr17:19678200-19685800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:19678200-19687200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:19678200-19687400	Strong transcription	Placenta	Placenta
37	chr17:19678200-19688000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:19678200-19691200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:19678200-19698800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr17:19678200-19712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:19678400-19686000	Strong transcription	Osteobl	bone
42	chr17:19678400-19687200	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr17:19678400-19692000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr17:19678800-19691800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr17:19678800-19698800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr17:19678800-19699200	Weak transcription	Colonic Mucosa	Colon
47	chr17:19679000-19685200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr17:19679000-19685800	Strong transcription	Colon Smooth Muscle	Colon
49	chr17:19679200-19685800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr17:19679200-19686200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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