Variant report

Variant	rs1978566
Chromosome Location	chr8:67385088-67385089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:67385016-67385148	H1-hESC	embryonic stem cell:	n/a	chr8:67385137-67385148
2	CEBPB	chr8:67384997-67385194	A549	lung:	n/a	chr8:67385137-67385148
3	CEBPB	chr8:67384973-67385233	K562	blood:	n/a	chr8:67385137-67385148

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67385031..67386596-chr8:67579677..67581320,2	K562	blood:
2	chr16:729976..731206-chr8:67384019..67385398,14	HCT-116	colon:

Variant related genes	Relation type
C8orf46	TF binding region
ENSG00000103266	Chromatin interaction
ENSG00000213865	Chromatin interaction
ENSG00000270024	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10095148	0.86[ASN][1000 genomes]
rs10112574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1030420	0.92[CHB][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs1030421	0.83[MEX][hapmap]
rs10957375	0.86[ASN][1000 genomes]
rs11778287	0.91[JPT][hapmap]
rs11780639	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs12335128	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs2303519	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs2555568	0.84[MEX][hapmap]
rs2719008	0.84[MEX][hapmap]
rs3739334	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs3739337	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs7014273	0.86[ASN][1000 genomes]
rs73691543	0.82[ASN][1000 genomes]
rs746149	0.80[ASN][1000 genomes]
rs890514	0.95[ASN][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv465702	chr8:67375519-67385088	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv611457	chr8:67375519-67385088	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1978566	C8orf46	cis	Thyroid	GTEx
rs1978566	ADHFE1	cis	multi-tissue	Pritchard
rs1978566	ADHFE1	cis	Nerve Tibial	GTEx
rs1978566	ADHFE1	cis	cerebellum	SCAN
rs1978566	ADHFE1	cis	parietal	SCAN
rs1978566	ADHFE1	cis	Artery Tibial	GTEx
rs1978566	MYBL1	cis	parietal	SCAN
rs1978566	ADHFE1	cis	Skin Sun Exposed Lower leg	GTEx
rs1978566	C8orf46	cis	Adipose Subcutaneous	GTEx
rs1978566	C8orf46	cis	Artery Tibial	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67372800-67395200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:67373800-67385400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
4	chr8:67376400-67390000	Weak transcription	Fetal Heart	heart
5	chr8:67377200-67389400	Weak transcription	Brain Substantia Nigra	brain
6	chr8:67380000-67386000	Weak transcription	Fetal Intestine Large	intestine
7	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
8	chr8:67381000-67388200	Weak transcription	Adipose Nuclei	Adipose
9	chr8:67381600-67386200	Weak transcription	Ovary	ovary
10	chr8:67381800-67385600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:67381800-67389400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:67382600-67386200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:67383400-67385800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:67384200-67385200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:67384400-67385200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:67384400-67385400	Enhancers	Brain Germinal Matrix	brain
17	chr8:67384400-67385600	Weak transcription	NHEK	skin
18	chr8:67384400-67395800	Weak transcription	Osteobl	bone
19	chr8:67384600-67385400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:67384600-67385600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:67384600-67385600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:67384600-67389600	Weak transcription	Placenta	Placenta
23	chr8:67384600-67392200	Weak transcription	NHDF-Ad	bronchial
24	chr8:67384800-67385600	Weak transcription	HMEC	breast
25	chr8:67384800-67385800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:67384800-67387000	Enhancers	A549	lung
27	chr8:67384800-67387400	Enhancers	Liver	Liver
28	chr8:67384800-67389400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:67384800-67389400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:67384800-67389400	Weak transcription	NHLF	lung
31	chr8:67384800-67389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:67384800-67389600	Weak transcription	Psoas Muscle	Psoas
33	chr8:67384800-67389800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:67384800-67389800	Weak transcription	HUVEC	blood vessel
35	chr8:67384800-67389800	Weak transcription	NH-A	brain
36	chr8:67384800-67392200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:67384800-67392200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:67384800-67392200	Weak transcription	HSMMtube	muscle
39	chr8:67384800-67395800	Weak transcription	Left Ventricle	heart
40	chr8:67385000-67385400	Weak transcription	Hela-S3	cervix
41	chr8:67385000-67386200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:67385000-67389400	Weak transcription	HSMM	muscle

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