Variant report

Variant	rs13248765
Chromosome Location	chr8:20206822-20206823
allele	A/C
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	CTCF	chr8:20206680-20206930	HCM	heart:	n/a	chr8:20206726-20206735 chr8:20206722-20206735

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20204664..20206937-chr8:20209022..20211953,2	K562	blood:

Variant related genes	Relation type
ENSG00000253164	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1038465	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12541289	0.85[AMR][1000 genomes]
rs12542760	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12544659	0.85[AMR][1000 genomes]
rs12679658	0.81[AMR][1000 genomes]
rs34324466	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35946940	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4270981	0.82[AMR][1000 genomes]
rs57307831	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs754455	0.81[AMR][1000 genomes]
rs900956	0.91[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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20205000-20207800	Enhancers	Fetal Stomach	stomach
2	chr8:20205600-20207200	Enhancers	Ovary	ovary
3	chr8:20205600-20207600	Enhancers	Fetal Lung	lung
4	chr8:20205800-20208000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr8:20206200-20207000	Enhancers	Fetal Heart	heart
6	chr8:20206400-20207000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:20206400-20207000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr8:20206400-20207000	Enhancers	Left Ventricle	heart
9	chr8:20206400-20207200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:20206400-20207400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:20206400-20207600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr8:20206400-20207600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:20206400-20207600	Weak transcription	Lung	lung
14	chr8:20206400-20207800	Enhancers	HSMMtube	muscle
15	chr8:20206400-20208000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:20206400-20208200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:20206400-20208400	Enhancers	Fetal Brain Male	brain
18	chr8:20206400-20208800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr8:20206400-20208800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr8:20206400-20209800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:20206600-20207000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:20206600-20207000	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr8:20206600-20207600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr8:20206600-20207800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr8:20206600-20207800	Weak transcription	Fetal Kidney	kidney
26	chr8:20206600-20208000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:20206600-20208000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:20206600-20208400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr8:20206600-20208600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:20206600-20208600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr8:20206800-20207000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:20206800-20207200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:20206800-20207400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:20206800-20207600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:20206800-20208200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:20206800-20208200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:20206800-20213400	Weak transcription	Right Atrium	heart

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