Variant report

Variant	rs34618477
Chromosome Location	chr5:126694195-126694196
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126576910..126578937-chr5:126692698..126694644,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11951920	0.85[AFR][1000 genomes]
rs55900385	0.97[AFR][1000 genomes]
rs56217196	0.92[AFR][1000 genomes]
rs58043513	0.86[AFR][1000 genomes]
rs73344982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126689800-126694200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:126691600-126694800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:126692000-126694800	Weak transcription	Fetal Brain Male	brain
5	chr5:126692200-126704800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:126692800-126694400	Enhancers	Fetal Muscle Leg	muscle
7	chr5:126693000-126695600	Enhancers	Brain Anterior Caudate	brain
8	chr5:126693400-126694200	Enhancers	Osteobl	bone
9	chr5:126693400-126695200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:126693400-126695400	Enhancers	Brain Substantia Nigra	brain
11	chr5:126693400-126695800	Enhancers	Brain Hippocampus Middle	brain
12	chr5:126693600-126694200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:126693600-126694200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:126693600-126694200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:126693600-126694400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:126693600-126694800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:126693600-126694800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:126693600-126694800	Flanking Active TSS	HSMMtube	muscle
19	chr5:126693600-126695000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr5:126693600-126695200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:126693600-126695200	Enhancers	NHDF-Ad	bronchial
22	chr5:126693600-126695600	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:126693800-126694200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:126693800-126694400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:126693800-126694400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:126693800-126694600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:126693800-126694600	Enhancers	Primary hematopoietic stem cells	blood
28	chr5:126693800-126694600	Enhancers	NH-A	brain
29	chr5:126693800-126694800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:126693800-126694800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:126693800-126694800	Enhancers	HUVEC	blood vessel
32	chr5:126693800-126695400	Enhancers	Brain Angular Gyrus	brain
33	chr5:126693800-126695600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:126694000-126694200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:126694000-126694200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:126694000-126694200	Enhancers	HSMM	muscle
37	chr5:126694000-126694400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:126694000-126694400	Enhancers	Psoas Muscle	Psoas

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