Variant report

Variant	rs8043950
Chromosome Location	chr16:69954942-69954943
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs16959200	1.00[EUR][1000 genomes]
rs17842101	1.00[EUR][1000 genomes]
rs1820189	1.00[EUR][1000 genomes]
rs28533532	1.00[EUR][1000 genomes]
rs2868017	1.00[EUR][1000 genomes]
rs3927170	1.00[EUR][1000 genomes]
rs41454046	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5020405	1.00[EUR][1000 genomes]
rs55797947	1.00[EUR][1000 genomes]
rs56361851	1.00[EUR][1000 genomes]
rs57869957	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58008951	1.00[EUR][1000 genomes]
rs58342753	1.00[EUR][1000 genomes]
rs58909160	1.00[EUR][1000 genomes]
rs58970053	1.00[EUR][1000 genomes]
rs59118511	1.00[EUR][1000 genomes]
rs59740587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114701	1.00[EUR][1000 genomes]
rs60795760	1.00[EUR][1000 genomes]
rs60816774	1.00[EUR][1000 genomes]
rs61191725	1.00[EUR][1000 genomes]
rs61193693	1.00[EUR][1000 genomes]
rs61243105	1.00[EUR][1000 genomes]
rs61691323	1.00[EUR][1000 genomes]
rs6499285	1.00[EUR][1000 genomes]
rs6499290	1.00[EUR][1000 genomes]
rs6499294	1.00[EUR][1000 genomes]
rs689460	1.00[EUR][1000 genomes]
rs7188184	1.00[EUR][1000 genomes]
rs7188705	1.00[EUR][1000 genomes]
rs7197811	1.00[EUR][1000 genomes]
rs7198132	1.00[EUR][1000 genomes]
rs7205451	1.00[EUR][1000 genomes]
rs7205972	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73572193	1.00[EUR][1000 genomes]
rs73576131	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73576152	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73580178	1.00[EUR][1000 genomes]
rs73582113	1.00[EUR][1000 genomes]
rs73582155	1.00[EUR][1000 genomes]
rs73582166	1.00[EUR][1000 genomes]
rs74028069	1.00[EUR][1000 genomes]
rs74028070	1.00[EUR][1000 genomes]
rs8053447	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs904802	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	esv1792580	chr16:69950347-70005207	Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	esv1801278	chr16:69951043-70050770	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	esv1829103	chr16:69951043-70050770	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:69924400-69965000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:69935200-69955000	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:69939000-69974000	Weak transcription	Fetal Brain Male	brain
5	chr16:69939600-69967600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr16:69940400-69958800	Weak transcription	Right Atrium	heart
7	chr16:69940800-69955000	Weak transcription	Psoas Muscle	Psoas
8	chr16:69943200-69965600	Weak transcription	Brain Germinal Matrix	brain
9	chr16:69943400-69958600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:69943400-69959400	Weak transcription	Pancreas	Pancrea
11	chr16:69943600-69955000	Weak transcription	Brain Angular Gyrus	brain
12	chr16:69943600-69958800	Weak transcription	Right Ventricle	heart
13	chr16:69943600-69965000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr16:69943600-69967000	Weak transcription	Small Intestine	intestine
15	chr16:69944000-69957400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:69944000-69959200	Weak transcription	Stomach Mucosa	stomach
17	chr16:69944000-69959600	Weak transcription	Fetal Thymus	thymus
18	chr16:69945200-69964600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:69945400-69955000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:69945400-69955200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:69945400-69964000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr16:69945600-69958800	Weak transcription	Colonic Mucosa	Colon
23	chr16:69945600-69959000	Weak transcription	Esophagus	oesophagus
24	chr16:69945600-69959000	Weak transcription	Thymus	Thymus
25	chr16:69945600-69969400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr16:69946000-69959000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:69947600-69977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr16:69948200-69955600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr16:69948200-69977400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr16:69948400-69956800	Strong transcription	Primary T cells from cord blood	blood
31	chr16:69948400-69977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:69951600-69955200	Weak transcription	Left Ventricle	heart
33	chr16:69951600-69957800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr16:69951800-69957800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:69952200-69955200	Weak transcription	Fetal Heart	heart
36	chr16:69952200-69957400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr16:69952200-69957400	Weak transcription	Fetal Kidney	kidney
38	chr16:69952200-69957400	Weak transcription	Ovary	ovary
39	chr16:69952200-69957800	Weak transcription	Lung	lung
40	chr16:69952200-69957800	Weak transcription	HepG2	liver
41	chr16:69952200-69958600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:69952200-69958800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:69952200-69959800	Weak transcription	GM12878-XiMat	blood
44	chr16:69952200-69961000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:69952200-69965000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:69952400-69957600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr16:69952400-69957600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr16:69952400-69957800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr16:69952400-69963800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:69952600-69955200	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links