Variant report

Variant	rs695997
Chromosome Location	chr16:46717312-46717313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10902629	1.00[AMR][1000 genomes]
rs11860636	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12598707	1.00[AMR][1000 genomes]
rs1466170	1.00[AMR][1000 genomes]
rs1530895	1.00[AMR][1000 genomes]
rs153259	0.92[AFR][1000 genomes]
rs1542292	1.00[AMR][1000 genomes]
rs1641120	1.00[AMR][1000 genomes]
rs1645939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1651658	1.00[AMR][1000 genomes]
rs1651659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs166096	1.00[AMR][1000 genomes]
rs168745	1.00[AMR][1000 genomes]
rs1698957	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs185213	1.00[AMR][1000 genomes]
rs1865837	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865838	1.00[AMR][1000 genomes]
rs194054	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs194055	1.00[AMR][1000 genomes]
rs1992075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1992078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2033673	1.00[AMR][1000 genomes]
rs2034599	1.00[AMR][1000 genomes]
rs2164516	0.84[AFR][1000 genomes]
rs250420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs250421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252724	1.00[AMR][1000 genomes]
rs252725	1.00[AMR][1000 genomes]
rs252727	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252728	1.00[AMR][1000 genomes]
rs252732	1.00[AMR][1000 genomes]
rs252733	1.00[AMR][1000 genomes]
rs252734	1.00[AMR][1000 genomes]
rs28185	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36311	1.00[AMR][1000 genomes]
rs36313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36461	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36463	1.00[AMR][1000 genomes]
rs36465	1.00[AMR][1000 genomes]
rs36466	1.00[AMR][1000 genomes]
rs36467	1.00[AMR][1000 genomes]
rs36470	1.00[AMR][1000 genomes]
rs36473	1.00[AMR][1000 genomes]
rs36474	1.00[AMR][1000 genomes]
rs36475	1.00[AMR][1000 genomes]
rs36477	1.00[AMR][1000 genomes]
rs36482	1.00[AMR][1000 genomes]
rs40164	1.00[AMR][1000 genomes]
rs408906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41232	1.00[AMR][1000 genomes]
rs414928	1.00[AMR][1000 genomes]
rs420560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs425556	1.00[AMR][1000 genomes]
rs438275	1.00[AMR][1000 genomes]
rs449778	1.00[AMR][1000 genomes]
rs4966571	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4966603	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967248	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967259	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4967594	1.00[AMR][1000 genomes]
rs4967595	1.00[AMR][1000 genomes]
rs62057622	1.00[AMR][1000 genomes]
rs633699	1.00[AMR][1000 genomes]
rs637583	1.00[AMR][1000 genomes]
rs6598661	1.00[AMR][1000 genomes]
rs6598679	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6598781	1.00[AMR][1000 genomes]
rs698417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs698419	1.00[AMR][1000 genomes]
rs700580	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs700581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184436	1.00[AMR][1000 genomes]
rs7192389	1.00[AMR][1000 genomes]
rs7198683	1.00[AMR][1000 genomes]
rs7206393	1.00[AMR][1000 genomes]
rs794283	1.00[AMR][1000 genomes]
rs794557	1.00[AMR][1000 genomes]
rs794558	1.00[AMR][1000 genomes]
rs794559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs797016	1.00[AMR][1000 genomes]
rs8044120	1.00[AMR][1000 genomes]
rs8046818	1.00[AMR][1000 genomes]
rs8047302	1.00[AMR][1000 genomes]
rs8048535	1.00[AMR][1000 genomes]
rs8049734	1.00[AMR][1000 genomes]
rs8059285	1.00[AMR][1000 genomes]
rs808428	1.00[AMR][1000 genomes]
rs808436	1.00[AMR][1000 genomes]
rs811196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811267	1.00[AMR][1000 genomes]
rs811734	1.00[AMR][1000 genomes]
rs937659	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9922581	1.00[AMR][1000 genomes]
rs9924386	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925083	1.00[AMR][1000 genomes]
rs9935045	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised 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	38 gene(s)	inside rSNPs	diseases
7	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
10	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv428327	chr16:46556968-46718490	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv572536	chr16:46694649-46727385	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	esv1799771	chr16:46705343-46731413	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	esv1792701	chr16:46709686-46751452	Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46691000-46718000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:46691200-46717400	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr16:46692800-46717400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr16:46694000-46717600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:46698600-46717800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr16:46702400-46717600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:46702600-46722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:46705000-46720000	Weak transcription	Fetal Brain Male	brain
9	chr16:46705000-46720600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:46705000-46720600	Weak transcription	Brain Substantia Nigra	brain
11	chr16:46705000-46721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:46705600-46721400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:46705800-46720600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:46705800-46721400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:46705800-46721400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr16:46705800-46722200	Weak transcription	Aorta	Aorta
17	chr16:46708200-46718000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:46709000-46717600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:46709000-46717600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:46709000-46721200	Weak transcription	Thymus	Thymus
21	chr16:46710000-46717400	Strong transcription	Primary B cells from cord blood	blood
22	chr16:46710000-46717800	Weak transcription	Pancreas	Pancrea
23	chr16:46710000-46721400	Weak transcription	Gastric	stomach
24	chr16:46712200-46717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:46712600-46720600	Weak transcription	Psoas Muscle	Psoas
26	chr16:46712800-46720600	Weak transcription	Right Ventricle	heart
27	chr16:46713000-46721000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:46713200-46718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr16:46713200-46718200	Weak transcription	Colon Smooth Muscle	Colon
30	chr16:46713200-46720800	Weak transcription	Fetal Kidney	kidney
31	chr16:46713400-46717800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:46713400-46720400	Weak transcription	Brain Germinal Matrix	brain
33	chr16:46713400-46720400	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:46713400-46720400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr16:46713400-46720600	Weak transcription	Brain Anterior Caudate	brain
36	chr16:46713400-46720600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr16:46713400-46721400	Weak transcription	Lung	lung
38	chr16:46713600-46717800	Weak transcription	Left Ventricle	heart
39	chr16:46713600-46718000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:46713600-46720400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:46713600-46720400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:46713600-46720600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr16:46713600-46720600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:46713600-46720600	Weak transcription	Brain Angular Gyrus	brain
45	chr16:46713600-46720600	Weak transcription	Colonic Mucosa	Colon
46	chr16:46713600-46720600	Weak transcription	Fetal Stomach	stomach
47	chr16:46713600-46720600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:46713600-46720600	Weak transcription	HSMMtube	muscle
49	chr16:46713600-46720600	Weak transcription	NHEK	skin
50	chr16:46713600-46720600	Weak transcription	Osteobl	bone

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