Variant report

Variant	rs6549236
Chromosome Location	chr3:69592507-69592508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4855413	0.88[ASN][1000 genomes]
rs55638663	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6549231	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6549235	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6549238	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67465654	0.88[ASN][1000 genomes]
rs6762368	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9310164	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9818139	0.92[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	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69590000-69592600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:69590000-69592600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr3:69590000-69592600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
4	chr3:69590200-69592600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr3:69590600-69592600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr3:69590800-69592600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:69592200-69592600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:69592200-69592600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
9	chr3:69592200-69592600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:69592200-69592600	Enhancers	Fetal Heart	heart
11	chr3:69592200-69592800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:69592200-69593000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr3:69592400-69592600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr3:69592400-69592600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr3:69592400-69592600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr3:69592400-69592600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:69592400-69592600	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr3:69592400-69592600	Flanking Active TSS	Fetal Brain Female	brain
19	chr3:69592400-69592600	Bivalent Enhancer	Fetal Kidney	kidney
20	chr3:69592400-69592600	Flanking Active TSS	HMEC	breast
21	chr3:69592400-69592600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr3:69592400-69592600	Enhancers	NHEK	skin
23	chr3:69592400-69592800	Enhancers	Brain Hippocampus Middle	brain
24	chr3:69592400-69593000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr3:69592400-69593000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:69592400-69593000	Enhancers	Fetal Brain Male	brain
27	chr3:69592400-69596800	Weak transcription	Brain Substantia Nigra	brain
28	chr3:69592400-69604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:69592400-69607600	Weak transcription	Right Ventricle	heart

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