Variant report

Variant	rs1814973
Chromosome Location	chr3:46581884-46581885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12492797	0.83[ASN][1000 genomes]
rs1879328	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2888531	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34334514	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34478154	0.83[ASN][1000 genomes]
rs34504121	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35714147	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4521278	0.82[EUR][1000 genomes]
rs4683241	0.95[EUR][1000 genomes]
rs4683242	0.96[EUR][1000 genomes]
rs4683243	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55786118	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55990714	0.84[ASN][1000 genomes]
rs59244195	0.87[EUR][1000 genomes]
rs59264692	0.83[ASN][1000 genomes]
rs60983021	0.87[EUR][1000 genomes]
rs6442000	0.91[EUR][1000 genomes]
rs67227548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6774189	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67814017	0.81[ASN][1000 genomes]
rs6791703	0.84[ASN][1000 genomes]
rs6791941	0.87[EUR][1000 genomes]
rs68018913	0.81[ASN][1000 genomes]
rs72900270	0.80[EUR][1000 genomes]
rs72900281	0.87[EUR][1000 genomes]
rs7428292	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7621549	0.84[ASN][1000 genomes]
rs7632776	0.84[ASN][1000 genomes]
rs7643332	0.87[EUR][1000 genomes]
rs867619	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs883738	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs883740	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9827559	0.84[ASN][1000 genomes]
rs9839075	0.84[ASN][1000 genomes]
rs9848284	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv876737	chr3:46569721-46595431	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
2	chr3:46549200-46585400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:46556400-46591000	Weak transcription	Psoas Muscle	Psoas
4	chr3:46558400-46591000	Weak transcription	Gastric	stomach
5	chr3:46567200-46586000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:46569000-46584200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:46571000-46583800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:46571600-46587000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:46578400-46599200	Weak transcription	HSMMtube	muscle
10	chr3:46578800-46586200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:46579000-46583000	Weak transcription	Ovary	ovary
12	chr3:46579200-46587800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:46579600-46584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:46579800-46586200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:46580200-46584400	Weak transcription	Placenta	Placenta
16	chr3:46580200-46586200	Weak transcription	Liver	Liver
17	chr3:46580600-46584400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:46580600-46584400	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:46580600-46584400	Weak transcription	Left Ventricle	heart
20	chr3:46580600-46586200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:46580800-46582200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:46580800-46582400	Enhancers	Duodenum Mucosa	Duodenum
23	chr3:46580800-46583600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:46580800-46586400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:46581000-46583600	Weak transcription	NH-A	brain
26	chr3:46581000-46583800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:46581000-46583800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:46581000-46584400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:46581200-46582400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr3:46581200-46582400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:46581200-46582600	Enhancers	Primary hematopoietic stem cells	blood
32	chr3:46581200-46583600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:46581200-46584000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:46581200-46584400	Enhancers	Primary B cells from peripheral blood	blood
35	chr3:46581200-46584400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr3:46581200-46584800	Enhancers	Thymus	Thymus
37	chr3:46581200-46599200	Weak transcription	Fetal Heart	heart
38	chr3:46581400-46582400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr3:46581400-46582600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:46581400-46583600	Weak transcription	HUVEC	blood vessel
41	chr3:46581400-46583800	Weak transcription	Osteobl	bone
42	chr3:46581400-46584200	Enhancers	Primary B cells from cord blood	blood
43	chr3:46581400-46594400	Enhancers	Fetal Thymus	thymus
44	chr3:46581600-46582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:46581600-46582400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr3:46581600-46582400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr3:46581600-46582400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:46581600-46582600	Weak transcription	Colonic Mucosa	Colon
49	chr3:46581600-46582600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:46581600-46582800	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links