Variant report

Variant	rs56105112
Chromosome Location	chr8:69132762-69132763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69126795..69128703-chr8:69131275..69133013,2	K562	blood:
2	chr8:69084432..69086381-chr8:69131521..69133145,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11987049	0.85[ASN][1000 genomes]
rs17379640	0.80[ASN][1000 genomes]
rs17450699	0.85[ASN][1000 genomes]
rs17463773	0.85[ASN][1000 genomes]
rs73265346	0.82[AMR][1000 genomes];1.00[EUR][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	esv3331644	chr8:68806705-69189171	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv890976	chr8:69100070-69155563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69086000-69141600	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:69103200-69141400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:69103200-69141800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:69104800-69132800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:69105400-69141400	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:69116800-69135000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:69120600-69140000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:69122200-69138400	Weak transcription	Fetal Lung	lung
9	chr8:69124000-69132800	Weak transcription	Pancreas	Pancrea
10	chr8:69125800-69141200	Weak transcription	Brain Substantia Nigra	brain
11	chr8:69127200-69132800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:69127400-69135000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:69127400-69136400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:69127600-69135400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:69128400-69141400	Weak transcription	Brain Anterior Caudate	brain
16	chr8:69129200-69141400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:69129400-69135000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:69129600-69134600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:69130000-69136400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:69130000-69151800	Weak transcription	Lung	lung
21	chr8:69130200-69141400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:69130400-69132800	Weak transcription	Left Ventricle	heart
23	chr8:69130600-69141200	Weak transcription	Adipose Nuclei	Adipose
24	chr8:69130800-69143600	Weak transcription	HUVEC	blood vessel
25	chr8:69131000-69151200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:69131200-69140600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:69131200-69141600	Weak transcription	Fetal Brain Male	brain
28	chr8:69131200-69145000	Weak transcription	Fetal Stomach	stomach
29	chr8:69131400-69141800	Weak transcription	Brain Angular Gyrus	brain
30	chr8:69131800-69132800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:69132000-69135000	Weak transcription	Right Atrium	heart
32	chr8:69132200-69134200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:69132200-69135600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:69132400-69133400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:69132400-69133400	Enhancers	Brain Germinal Matrix	brain
36	chr8:69132400-69135400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:69132600-69133200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:69132600-69133200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:69132600-69133200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:69132600-69133400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:69132600-69133400	Enhancers	NHDF-Ad	bronchial
42	chr8:69132600-69133400	Enhancers	NHLF	lung
43	chr8:69132600-69133600	Enhancers	Fetal Heart	heart
44	chr8:69132600-69133600	Enhancers	Osteobl	bone

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