Variant report

Variant	rs244919
Chromosome Location	chr16:58738050-58738051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11076263	0.82[EUR][1000 genomes]
rs11646756	0.82[EUR][1000 genomes]
rs12325054	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12325510	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12598527	0.82[EUR][1000 genomes]
rs12600201	0.82[EUR][1000 genomes]
rs12600206	0.82[EUR][1000 genomes]
rs12935488	0.83[EUR][1000 genomes]
rs1364346	0.84[EUR][1000 genomes]
rs1473205	0.90[EUR][1000 genomes]
rs1473206	0.90[EUR][1000 genomes]
rs151817	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1615326	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1616798	0.84[EUR][1000 genomes]
rs1627257	0.83[EUR][1000 genomes]
rs1628029	0.82[EUR][1000 genomes]
rs1646262	0.83[EUR][1000 genomes]
rs1646270	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1646273	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1646276	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1646277	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1646283	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1646289	0.84[EUR][1000 genomes]
rs1646290	0.84[EUR][1000 genomes]
rs1657162	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1657165	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1657168	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1657175	0.84[EUR][1000 genomes]
rs1657179	0.91[EUR][1000 genomes]
rs257623	0.83[EUR][1000 genomes]
rs257625	0.83[EUR][1000 genomes]
rs257626	0.83[EUR][1000 genomes]
rs30843	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62066815	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62066843	0.83[EUR][1000 genomes]
rs6993	0.84[ASN][1000 genomes]
rs982848	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
3	nsv510686	chr16:58646119-58765894	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58719000-58739600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:58719200-58741800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:58731000-58740000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:58731200-58739600	Weak transcription	Fetal Brain Female	brain
5	chr16:58732000-58739600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr16:58732000-58739600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr16:58732200-58739400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:58732400-58740600	Weak transcription	Fetal Brain Male	brain
9	chr16:58733200-58739600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:58733200-58739600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:58733200-58740600	Weak transcription	GM12878-XiMat	blood
12	chr16:58733200-58740800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:58733400-58740400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr16:58733400-58740600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:58733400-58741000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:58733600-58740400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr16:58733800-58740400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr16:58734200-58740600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr16:58735000-58738200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:58735000-58739200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:58735600-58739600	Weak transcription	A549	lung
22	chr16:58735600-58739800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr16:58735600-58739800	Weak transcription	Thymus	Thymus
24	chr16:58735800-58752000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:58736000-58740600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:58736200-58738400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr16:58736200-58739200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:58736200-58739400	Weak transcription	Left Ventricle	heart
29	chr16:58736200-58739800	Weak transcription	Brain Germinal Matrix	brain
30	chr16:58736200-58740400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr16:58736200-58740400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:58736200-58741200	Weak transcription	Osteobl	bone
33	chr16:58736400-58738200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:58736400-58739200	Weak transcription	Primary T cells from cord blood	blood
35	chr16:58736400-58739200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:58736400-58739800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:58736400-58739800	Weak transcription	Fetal Intestine Small	intestine
38	chr16:58736600-58739200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr16:58736800-58740800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:58737200-58739800	Weak transcription	Fetal Lung	lung
41	chr16:58737400-58739000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:58737400-58739000	Weak transcription	Fetal Muscle Leg	muscle
43	chr16:58737400-58739000	Weak transcription	Fetal Thymus	thymus
44	chr16:58737400-58741800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:58737600-58739200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:58737600-58739200	Weak transcription	Brain Anterior Caudate	brain
47	chr16:58737600-58739200	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:58737600-58739200	Weak transcription	HMEC	breast
49	chr16:58737600-58739600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:58737600-58739800	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links