Variant report

Variant	rs2977007
Chromosome Location	chr8:52302527-52302528
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17264278	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2116350	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2915497	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2915498	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2915501	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2977006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2977013	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2977016	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2977018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3097699	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34452992	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs994127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active 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	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52301400-52302800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:52301400-52302800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:52301600-52302800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:52301600-52302800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:52301600-52302800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:52301600-52302800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:52301600-52303000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:52301600-52303000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:52301600-52303000	Enhancers	Fetal Kidney	kidney
10	chr8:52301600-52303200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:52301800-52303000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:52301800-52303000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:52301800-52303000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:52301800-52303000	Enhancers	Fetal Stomach	stomach
15	chr8:52301800-52303000	Enhancers	Osteobl	bone
16	chr8:52301800-52303400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:52302000-52303200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:52302200-52303400	Enhancers	NHDF-Ad	bronchial
19	chr8:52302200-52307000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:52302400-52302800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:52302400-52303200	Weak transcription	Fetal Lung	lung
22	chr8:52302400-52306200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:52302400-52307000	Weak transcription	NH-A	brain

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