Variant report

Variant	rs12922960
Chromosome Location	chr16:47608247-47608248
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47607769..47610118-chr16:47633916..47636393,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11247408	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1137143	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11863453	0.86[ASN][1000 genomes]
rs1200995	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12931879	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13332786	0.88[EUR][1000 genomes]
rs13335733	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35183491	0.90[EUR][1000 genomes]
rs3809676	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
4	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
5	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
6	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 target site	16 gene(s)	inside rSNPs	diseases
7	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
8	nsv974811	chr16:47599013-47613849	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47581000-47615800	Weak transcription	Placenta	Placenta
2	chr16:47581000-47624200	Weak transcription	Brain Substantia Nigra	brain
3	chr16:47581200-47624600	Weak transcription	Colonic Mucosa	Colon
4	chr16:47581200-47627400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:47581400-47641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:47581800-47621400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:47582000-47624200	Weak transcription	Fetal Kidney	kidney
8	chr16:47582200-47625000	Weak transcription	Fetal Heart	heart
9	chr16:47584600-47624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:47584600-47624400	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:47584800-47622600	Weak transcription	Brain Angular Gyrus	brain
12	chr16:47588200-47622600	Weak transcription	Fetal Lung	lung
13	chr16:47588400-47608400	Weak transcription	Thymus	Thymus
14	chr16:47588400-47622600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr16:47588600-47615200	Weak transcription	Liver	Liver
16	chr16:47588600-47615800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr16:47588600-47622600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:47588600-47622600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr16:47588800-47624600	Weak transcription	Gastric	stomach
20	chr16:47589400-47622400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:47596600-47627200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:47597200-47622600	Weak transcription	HSMMtube	muscle
23	chr16:47599400-47623600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:47599800-47608600	Weak transcription	NH-A	brain
25	chr16:47599800-47622800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:47599800-47651200	Weak transcription	A549	lung
27	chr16:47600000-47608600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:47600000-47624600	Weak transcription	HSMM	muscle
29	chr16:47600200-47608600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:47600200-47622600	Weak transcription	Aorta	Aorta
31	chr16:47600400-47615200	Weak transcription	Adipose Nuclei	Adipose
32	chr16:47600800-47610400	Weak transcription	Brain Germinal Matrix	brain
33	chr16:47600800-47622600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:47600800-47622800	Weak transcription	Ovary	ovary
35	chr16:47601000-47624400	Weak transcription	Fetal Brain Male	brain
36	chr16:47601200-47611800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr16:47602000-47622600	Weak transcription	Brain Hippocampus Middle	brain
38	chr16:47602800-47608600	Strong transcription	Primary B cells from cord blood	blood
39	chr16:47603200-47626000	Weak transcription	Stomach Mucosa	stomach
40	chr16:47605000-47608800	Strong transcription	Fetal Stomach	stomach
41	chr16:47605200-47608800	Strong transcription	Fetal Intestine Large	intestine
42	chr16:47605200-47609600	ZNF genes & repeats	GM12878-XiMat	blood
43	chr16:47605400-47609000	Genic enhancers	Primary B cells from peripheral blood	blood
44	chr16:47605400-47609600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr16:47605800-47608400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr16:47606000-47611600	Weak transcription	K562	blood
47	chr16:47606000-47612600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:47606000-47625000	Weak transcription	Small Intestine	intestine
49	chr16:47606200-47622600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr16:47606200-47624400	Weak transcription	Fetal Brain Female	brain

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