Variant report

Variant	rs16970609
Chromosome Location	chr16:70349818-70349819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70322044..70326489-chr16:70345691..70350355,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AARS-1	chr16:70349547-70350045	ENSG00000245206
2	lnc-AARS-1	chr16:70349543-70350045	ENSG00000261777.1

Variant related genes	Relation type
ENSG00000157349	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs11537667	1.00[ASW][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11859257	0.83[AFR][1000 genomes]
rs11859827	0.98[AFR][1000 genomes]
rs11860870	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860922	0.82[AFR][1000 genomes]
rs11862053	1.00[ASW][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11862150	0.87[AFR][1000 genomes]
rs11862188	0.87[AFR][1000 genomes]
rs11863943	0.91[ASW][hapmap]
rs11865783	0.80[YRI][hapmap];0.89[AMR][1000 genomes]
rs11866378	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs11866451	0.86[AFR][1000 genomes]
rs16970141	1.00[ASW][hapmap];0.85[LWK][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs16970147	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs16970149	0.82[YRI][hapmap]
rs16970151	0.91[ASW][hapmap];0.82[YRI][hapmap]
rs16970152	0.91[ASW][hapmap];0.82[YRI][hapmap]
rs16970153	0.82[YRI][hapmap]
rs16970159	0.91[ASW][hapmap];0.90[YRI][hapmap]
rs16970165	0.91[ASW][hapmap];0.82[YRI][hapmap]
rs16970169	0.91[ASW][hapmap];0.95[YRI][hapmap]
rs16970361	1.00[ASW][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17880268	1.00[ASW][hapmap];0.94[MKK][hapmap]
rs17882471	0.87[MKK][hapmap]
rs3972037	0.89[AMR][1000 genomes]
rs55657328	0.93[AFR][1000 genomes]
rs55805938	0.96[AFR][1000 genomes]
rs55819743	0.87[AFR][1000 genomes]
rs55936739	0.93[AFR][1000 genomes]
rs55971559	0.81[AFR][1000 genomes]
rs56043981	0.98[AFR][1000 genomes]
rs56090000	0.98[AFR][1000 genomes]
rs56096542	0.96[AFR][1000 genomes]
rs56217164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56234537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57279408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57320283	0.86[AFR][1000 genomes]
rs57422630	0.87[AFR][1000 genomes]
rs57623576	1.00[AFR][1000 genomes]
rs58055772	0.87[AFR][1000 genomes]
rs58131227	0.91[AFR][1000 genomes]
rs58319566	0.86[AFR][1000 genomes]
rs58328210	0.90[AFR][1000 genomes]
rs59384897	0.96[AFR][1000 genomes]
rs59612351	0.88[AFR][1000 genomes]
rs59791510	0.98[AFR][1000 genomes]
rs59849898	0.91[AFR][1000 genomes]
rs59928915	0.90[AFR][1000 genomes]
rs60103946	0.91[AFR][1000 genomes]
rs60426209	0.96[AFR][1000 genomes]
rs60523557	0.98[AFR][1000 genomes]
rs60567469	0.80[AFR][1000 genomes]
rs60841206	0.86[AFR][1000 genomes]
rs61172065	0.94[AFR][1000 genomes]
rs61266247	0.82[AFR][1000 genomes]
rs61391917	1.00[AFR][1000 genomes]
rs61594809	0.96[AFR][1000 genomes]
rs6499309	0.91[AFR][1000 genomes]
rs6499314	1.00[ASW][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap]
rs7184248	0.96[AFR][1000 genomes]
rs7185665	0.96[AFR][1000 genomes]
rs7186024	0.96[AFR][1000 genomes]
rs7190921	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7195086	0.91[ASW][hapmap]
rs7195104	0.82[YRI][hapmap]
rs7195567	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196392	0.80[ASW][hapmap]
rs7199145	0.93[MKK][hapmap]
rs7199346	1.00[ASW][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs7203772	0.82[YRI][hapmap]
rs7204793	0.80[YRI][hapmap];0.89[AMR][1000 genomes]
rs7204800	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205871	0.96[AFR][1000 genomes]
rs7205990	1.00[ASW][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7206347	0.95[YRI][hapmap]
rs74024176	0.85[AFR][1000 genomes]
rs74024180	0.91[AFR][1000 genomes]
rs74024182	0.87[AFR][1000 genomes]
rs74024184	0.93[AFR][1000 genomes]
rs74024185	0.93[AFR][1000 genomes]
rs74024186	0.96[AFR][1000 genomes]
rs74024187	0.96[AFR][1000 genomes]
rs74024191	0.96[AFR][1000 genomes]
rs74024193	0.97[AFR][1000 genomes]
rs74024196	1.00[AFR][1000 genomes]
rs74024199	0.98[AFR][1000 genomes]
rs74024200	0.98[AFR][1000 genomes]
rs8045571	0.82[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs8046280	0.93[AFR][1000 genomes]
rs8046662	0.82[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs8049046	0.90[YRI][hapmap]
rs8049316	0.93[MKK][hapmap]
rs8051869	0.90[AFR][1000 genomes]
rs8053040	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs8053657	0.81[AFR][1000 genomes]
rs8053883	0.91[ASW][hapmap];0.81[YRI][hapmap]
rs8055338	0.93[MKK][hapmap]
rs8063749	1.00[YRI][hapmap];0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking 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 target site	51 gene(s)	inside rSNPs	diseases
2	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70333800-70350200	Weak transcription	Gastric	stomach
2	chr16:70333800-70350800	Weak transcription	Aorta	Aorta
3	chr16:70333800-70367800	Weak transcription	Small Intestine	intestine
4	chr16:70334000-70350200	Weak transcription	Left Ventricle	heart
5	chr16:70334000-70350400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
7	chr16:70334200-70350000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
9	chr16:70335400-70350400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr16:70335800-70350400	Weak transcription	Fetal Lung	lung
11	chr16:70335800-70366400	Weak transcription	Psoas Muscle	Psoas
12	chr16:70335800-70374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:70339000-70366400	Weak transcription	K562	blood
14	chr16:70339200-70350000	Weak transcription	Spleen	Spleen
15	chr16:70339200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:70339400-70350000	Weak transcription	Hela-S3	cervix
17	chr16:70339400-70350200	Weak transcription	Primary B cells from cord blood	blood
18	chr16:70339400-70350200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:70339400-70351400	Weak transcription	NH-A	brain
20	chr16:70339400-70359000	Weak transcription	HUVEC	blood vessel
21	chr16:70339400-70365000	Weak transcription	A549	lung
22	chr16:70339400-70367400	Weak transcription	HMEC	breast
23	chr16:70339600-70356800	Weak transcription	GM12878-XiMat	blood
24	chr16:70342200-70357600	Weak transcription	NHLF	lung
25	chr16:70344600-70350200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:70345200-70350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:70345200-70350600	Weak transcription	Colonic Mucosa	Colon
28	chr16:70345600-70366600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:70346200-70352000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:70346200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:70346200-70376000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:70346400-70352400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr16:70346400-70369600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr16:70346600-70360400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr16:70347400-70350600	Weak transcription	Fetal Brain Female	brain
36	chr16:70347400-70371000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:70348200-70367800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:70348200-70371000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:70348400-70371000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:70348600-70352400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr16:70348600-70355800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr16:70348800-70350600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr16:70348800-70351800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr16:70348800-70351800	Strong transcription	Brain Angular Gyrus	brain
45	chr16:70348800-70351800	Strong transcription	Fetal Kidney	kidney
46	chr16:70348800-70352800	Strong transcription	Fetal Thymus	thymus
47	chr16:70348800-70354200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:70348800-70354600	Strong transcription	Placenta	Placenta
49	chr16:70348800-70355600	Strong transcription	Brain Hippocampus Middle	brain
50	chr16:70348800-70359600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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