Variant report

Variant	rs2108889
Chromosome Location	chr5:126898751-126898752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17164810	0.86[AFR][1000 genomes]
rs55857193	1.00[AMR][1000 genomes]
rs56408687	1.00[AMR][1000 genomes]
rs57304460	1.00[AMR][1000 genomes]
rs58622488	1.00[AMR][1000 genomes]
rs59168209	1.00[AMR][1000 genomes]
rs60007347	1.00[AMR][1000 genomes]
rs60963225	1.00[AMR][1000 genomes]
rs61170684	1.00[AMR][1000 genomes]
rs6595772	1.00[AMR][1000 genomes]
rs6868588	1.00[AMR][1000 genomes]
rs6885300	1.00[AMR][1000 genomes]
rs6889554	1.00[AMR][1000 genomes]
rs73783767	1.00[AMR][1000 genomes]
rs73783787	1.00[AMR][1000 genomes]
rs73783789	1.00[AMR][1000 genomes]
rs73783791	1.00[AMR][1000 genomes]
rs73783792	1.00[AMR][1000 genomes]
rs73783793	1.00[AMR][1000 genomes]
rs73783796	1.00[AMR][1000 genomes]
rs73783799	1.00[AMR][1000 genomes]
rs73783801	1.00[AMR][1000 genomes]
rs73783802	1.00[AMR][1000 genomes]
rs73786110	1.00[AMR][1000 genomes]
rs7703677	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers 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 target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126871800-126901400	Weak transcription	Brain Substantia Nigra	brain
2	chr5:126888200-126901400	Weak transcription	Brain Anterior Caudate	brain
3	chr5:126888200-126901600	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:126888400-126901800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:126889600-126903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:126890000-126899800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:126890000-126899800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:126890000-126899800	Weak transcription	HUVEC	blood vessel
9	chr5:126890000-126899800	Weak transcription	NHEK	skin
10	chr5:126890000-126900000	Weak transcription	Aorta	Aorta
11	chr5:126890000-126902200	Weak transcription	Fetal Thymus	thymus
12	chr5:126890000-126903400	Weak transcription	Primary T cells from cord blood	blood
13	chr5:126890200-126901600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:126890400-126901000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:126890400-126907000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:126890600-126899800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:126891200-126899400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:126891200-126902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:126891400-126900600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:126891600-126902800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:126896600-126898800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:126896600-126898800	Enhancers	NHLF	lung
23	chr5:126897000-126899000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:126897000-126900600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:126897200-126899200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:126897200-126900000	Enhancers	Stomach Smooth Muscle	stomach
27	chr5:126897800-126898800	Enhancers	Primary hematopoietic stem cells	blood
28	chr5:126897800-126899800	Enhancers	Fetal Lung	lung
29	chr5:126897800-126901200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:126897800-126901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:126897800-126901800	Weak transcription	HSMM	muscle
32	chr5:126898000-126899400	Enhancers	Stomach Mucosa	stomach
33	chr5:126898000-126900200	Enhancers	Colon Smooth Muscle	Colon
34	chr5:126898000-126902600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:126898200-126898800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:126898200-126899200	Enhancers	Fetal Muscle Leg	muscle
37	chr5:126898200-126899200	Enhancers	Fetal Stomach	stomach
38	chr5:126898200-126900000	Weak transcription	HSMMtube	muscle
39	chr5:126898200-126903800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr5:126898400-126899200	Enhancers	Adipose Nuclei	Adipose
41	chr5:126898400-126900000	Enhancers	Rectal Smooth Muscle	rectum
42	chr5:126898400-126900800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:126898400-126901200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:126898600-126899600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:126898600-126899600	Weak transcription	NHDF-Ad	bronchial
46	chr5:126898600-126900800	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links