Variant report

Variant	rs67450950
Chromosome Location	chr3:46402559-46402560
allele	ATGGGGT/GTGGGG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1034382	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1799865	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2040389	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2040390	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2097283	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2097284	0.80[ASN][1000 genomes]
rs2157058	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2187669	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2187670	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2213288	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2373226	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3092962	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3092963	0.80[ASN][1000 genomes]
rs3092964	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3138042	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34997146	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35510257	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36048784	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36118141	0.80[EUR][1000 genomes]
rs3762823	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3918358	0.80[ASN][1000 genomes]
rs3918359	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3918361	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41276529	0.80[EUR][1000 genomes]
rs4683194	0.80[EUR][1000 genomes]
rs4683199	0.81[EUR][1000 genomes]
rs4683211	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4683215	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4683218	0.91[EUR][1000 genomes]
rs62244813	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6441950	0.80[EUR][1000 genomes]
rs6441958	0.84[EUR][1000 genomes]
rs6441959	0.84[EUR][1000 genomes]
rs6441960	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6441968	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6441972	0.80[ASN][1000 genomes]
rs6765031	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6783993	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6785981	0.80[ASN][1000 genomes]
rs6801761	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6810232	0.80[EUR][1000 genomes]
rs7371987	0.80[EUR][1000 genomes]
rs7432080	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7612940	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs762789	0.80[ASN][1000 genomes]
rs7635588	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs768539	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9839623	0.80[EUR][1000 genomes]
rs9840204	0.80[EUR][1000 genomes]
rs9877860	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46392400-46402600	Weak transcription	Spleen	Spleen
2	chr3:46395800-46404200	Weak transcription	Right Atrium	heart
3	chr3:46396000-46422000	Weak transcription	Lung	lung
4	chr3:46398000-46404200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr3:46398600-46402800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
6	chr3:46399400-46404000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr3:46400200-46404200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr3:46400400-46404200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:46400400-46404400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:46400600-46403000	Enhancers	Fetal Stomach	stomach
11	chr3:46400600-46404000	Enhancers	Primary B cells from cord blood	blood
12	chr3:46400800-46403200	Enhancers	Brain Germinal Matrix	brain
13	chr3:46400800-46403400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr3:46400800-46403800	Enhancers	Primary hematopoietic stem cells	blood
15	chr3:46401000-46402600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:46401000-46403000	Enhancers	Brain Anterior Caudate	brain
17	chr3:46401000-46403000	Enhancers	Brain Hippocampus Middle	brain
18	chr3:46401000-46403000	Enhancers	HSMMtube	muscle
19	chr3:46401000-46403200	Enhancers	Adipose Nuclei	Adipose
20	chr3:46401000-46403200	Enhancers	HSMM	muscle
21	chr3:46401000-46403400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr3:46401000-46403800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:46401000-46404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:46401000-46404000	Enhancers	Fetal Thymus	thymus
25	chr3:46401000-46404200	Enhancers	Primary B cells from peripheral blood	blood
26	chr3:46401000-46404400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:46401000-46404600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:46401200-46402800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:46401200-46402800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:46401200-46403200	Enhancers	NHDF-Ad	bronchial
31	chr3:46401200-46403600	Enhancers	Brain Substantia Nigra	brain
32	chr3:46401400-46402800	Enhancers	Fetal Brain Male	brain
33	chr3:46401400-46403000	Genic enhancers	Primary monocytes fromperipheralblood	blood
34	chr3:46401400-46403000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:46401600-46402600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:46401600-46403400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:46401600-46403800	Enhancers	Duodenum Mucosa	Duodenum
38	chr3:46401800-46403200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:46401800-46403400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:46402000-46402600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:46402000-46402600	Weak transcription	NHEK	skin
42	chr3:46402000-46403200	Enhancers	Colonic Mucosa	Colon
43	chr3:46402000-46403200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr3:46402000-46403400	Enhancers	Placenta	Placenta
45	chr3:46402000-46403600	Weak transcription	Fetal Intestine Large	intestine
46	chr3:46402000-46403800	Enhancers	Brain Cingulate Gyrus	brain
47	chr3:46402200-46402800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:46402200-46403400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:46402200-46404400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr3:46402200-46404400	Enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links