Variant report

Variant	rs13249111
Chromosome Location	chr8:54569634-54569635
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:
2	chr8:54556956..54558528-chr8:54569373..54571068,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10216460	0.83[EUR][1000 genomes]
rs10958389	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10958390	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11776780	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11785567	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13255239	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13276413	0.96[ASN][1000 genomes]
rs13281202	0.83[EUR][1000 genomes]
rs6473880	0.85[ASN][1000 genomes]
rs7461411	0.85[ASN][1000 genomes]
rs7461464	0.84[ASN][1000 genomes]
rs7815156	0.83[ASN][1000 genomes]
rs7817444	0.85[ASN][1000 genomes]
rs7817963	0.82[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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54558200-54569800	Weak transcription	Aorta	Aorta
2	chr8:54569000-54570000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:54569000-54570800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54569200-54569800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:54569200-54569800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:54569200-54569800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
7	chr8:54569200-54569800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:54569200-54571000	Active TSS	Brain Substantia Nigra	brain
9	chr8:54569200-54571000	Active TSS	Fetal Brain Female	brain
10	chr8:54569400-54569800	Enhancers	Fetal Heart	heart
11	chr8:54569400-54569800	Active TSS	GM12878-XiMat	blood
12	chr8:54569400-54570000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr8:54569400-54570000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr8:54569400-54570000	Bivalent/Poised TSS	HepG2	liver
15	chr8:54569400-54570200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
16	chr8:54569400-54570200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr8:54569400-54570200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr8:54569400-54570600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:54569400-54570600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
20	chr8:54569400-54570600	Active TSS	Brain Angular Gyrus	brain
21	chr8:54569400-54570600	Active TSS	Brain Hippocampus Middle	brain
22	chr8:54569400-54570600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr8:54569400-54570800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr8:54569400-54570800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr8:54569400-54570800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:54569400-54570800	Active TSS	Brain Anterior Caudate	brain
27	chr8:54569400-54570800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr8:54569400-54570800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:54569400-54570800	Active TSS	Fetal Lung	lung
30	chr8:54569400-54571000	Active TSS	Fetal Kidney	kidney
31	chr8:54569400-54571000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr8:54569600-54569800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:54569600-54569800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:54569600-54569800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:54569600-54569800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:54569600-54569800	Active TSS	Primary hematopoietic stem cells	blood
37	chr8:54569600-54569800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:54569600-54569800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:54569600-54569800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:54569600-54569800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:54569600-54569800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:54569600-54569800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:54569600-54569800	Enhancers	Liver	Liver
44	chr8:54569600-54569800	Active TSS	Colonic Mucosa	Colon
45	chr8:54569600-54569800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr8:54569600-54569800	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr8:54569600-54569800	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr8:54569600-54569800	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr8:54569600-54569800	Active TSS	Fetal Stomach	stomach
50	chr8:54569600-54569800	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links