Variant report

Variant	rs13276413
Chromosome Location	chr8:54569292-54569293
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	chr8:54563689..54565236-chr8:54567231..54570214,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10958389	0.83[ASN][1000 genomes]
rs10958390	0.83[ASN][1000 genomes]
rs11776780	0.86[ASN][1000 genomes]
rs11785567	0.88[ASN][1000 genomes]
rs13249111	0.96[ASN][1000 genomes]
rs13255239	0.81[ASN][1000 genomes]
rs6473880	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7461411	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7461464	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7815156	0.81[ASN][1000 genomes]
rs7817444	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7817963	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1830188	chr8:54520350-54601462	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv890919	chr8:54521248-54607336	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv1020081	chr8:54528266-54592073	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	nsv611381	chr8:54528760-54589344	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1030947	chr8:54535233-54592073	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	nsv890920	chr8:54559770-54626539	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54555000-54569600	Weak transcription	Right Atrium	heart
2	chr8:54558200-54569800	Weak transcription	Aorta	Aorta
3	chr8:54563400-54569400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:54565000-54569400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:54565200-54569400	Weak transcription	Fetal Heart	heart
6	chr8:54568600-54569400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:54568600-54569400	Weak transcription	Brain Angular Gyrus	brain
8	chr8:54568800-54569400	Enhancers	Primary B cells from cord blood	blood
9	chr8:54568800-54569600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:54569000-54569400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:54569000-54569600	Enhancers	Fetal Muscle Trunk	muscle
12	chr8:54569000-54570000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:54569000-54570800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:54569200-54569400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:54569200-54569400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr8:54569200-54569400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:54569200-54569400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:54569200-54569400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:54569200-54569400	Enhancers	GM12878-XiMat	blood
20	chr8:54569200-54569600	Enhancers	Primary B cells from peripheral blood	blood
21	chr8:54569200-54569600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:54569200-54569600	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr8:54569200-54569600	Enhancers	Fetal Brain Male	brain
24	chr8:54569200-54569600	Enhancers	Fetal Muscle Leg	muscle
25	chr8:54569200-54569600	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:54569200-54569800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:54569200-54569800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:54569200-54569800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr8:54569200-54569800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr8:54569200-54571000	Active TSS	Brain Substantia Nigra	brain
31	chr8:54569200-54571000	Active TSS	Fetal Brain Female	brain

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