Variant report

Variant	rs12056781
Chromosome Location	chr8:131446660-131446661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131441459..131443636-chr8:131445223..131447112,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16904257	0.80[EUR][1000 genomes]
rs16904261	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16904263	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16904264	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17289507	0.86[AMR][1000 genomes]
rs4629915	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67552634	0.90[ASN][1000 genomes]
rs68113520	0.90[ASN][1000 genomes]
rs73427441	0.91[ASN][1000 genomes]
rs73427442	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73427444	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12056781	ASAP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131429000-131446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
3	chr8:131429400-131447200	Weak transcription	Gastric	stomach
4	chr8:131429400-131449400	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:131432200-131449400	Weak transcription	Ovary	ovary
7	chr8:131434600-131447000	Weak transcription	HSMM	muscle
8	chr8:131434600-131447200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:131434800-131453000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:131437000-131449800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:131437000-131449800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:131438200-131451400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:131438800-131451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:131439200-131449800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:131439200-131450200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:131439400-131447400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:131439400-131450000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:131439600-131447000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:131441000-131446800	Weak transcription	Pancreas	Pancrea
20	chr8:131441000-131449600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:131441000-131449800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:131441000-131450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:131441200-131453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:131442000-131446800	Weak transcription	Osteobl	bone
25	chr8:131442000-131450600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:131442200-131447600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:131442400-131449800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:131443000-131446800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:131443200-131451400	Strong transcription	NHEK	skin
30	chr8:131443400-131447000	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:131443400-131447000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:131443400-131447200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:131443400-131451400	Weak transcription	Fetal Kidney	kidney
34	chr8:131443600-131446800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:131443600-131446800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:131443600-131446800	Weak transcription	Hela-S3	cervix
37	chr8:131443600-131447000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:131443600-131447000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:131443600-131447200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:131443600-131449600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:131443600-131453000	Weak transcription	Esophagus	oesophagus
42	chr8:131443800-131446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:131443800-131447200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:131444000-131447000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:131444000-131448000	Weak transcription	Brain Germinal Matrix	brain
46	chr8:131444000-131454400	Weak transcription	Liver	Liver
47	chr8:131444000-131455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:131444400-131450400	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:131444400-131452800	Weak transcription	Fetal Brain Male	brain
50	chr8:131444400-131453000	Strong transcription	A549	lung

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