Variant report

Variant	rs55713145
Chromosome Location	chr8:92028009-92028010
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	KAP1	chr8:92027365-92028483	K562	blood:	n/a	n/a
2	SETDB1	chr8:92027444-92028036	U2OS	brain:	n/a	n/a
3	TRIM28	chr8:92027639-92028124	K562	blood:	n/a	n/a
4	SETDB1	chr8:92026443-92028757	K562	blood:	n/a	n/a
5	CBX3	chr8:92027627-92028068	K562	blood:	n/a	n/a
6	POLR2A	chr8:92027604-92028251	H1-hESC	embryonic stem cell:	n/a	n/a
7	CBX3	chr8:92027647-92028148	K562	blood:	n/a	n/a
8	POLR2A	chr8:92027726-92028170	K562	blood:	n/a	n/a
9	CEBPB	chr8:92027984-92028137	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:92023345..92024869-chr8:92025995..92028632,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253358	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11985772	1.00[AMR][1000 genomes]
rs11987648	1.00[AMR][1000 genomes]
rs11991531	1.00[AMR][1000 genomes]
rs28489455	1.00[AMR][1000 genomes]
rs57710051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58715526	1.00[AMR][1000 genomes]
rs60529729	1.00[AMR][1000 genomes]
rs73694359	1.00[AMR][1000 genomes]
rs73694368	1.00[AMR][1000 genomes]
rs73694375	1.00[AMR][1000 genomes]
rs73694384	1.00[AMR][1000 genomes]
rs73697108	1.00[AMR][1000 genomes]
rs73697109	1.00[AMR][1000 genomes]
rs73697110	1.00[AMR][1000 genomes]
rs73697131	1.00[AMR][1000 genomes]
rs73697133	1.00[AMR][1000 genomes]
rs73697148	1.00[AMR][1000 genomes]
rs73697151	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1851089	chr8:92006663-92038304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91998200-92028800	Weak transcription	HSMMtube	muscle
2	chr8:91998200-92030200	Weak transcription	Aorta	Aorta
3	chr8:91998200-92030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:91998400-92028800	Weak transcription	Fetal Brain Male	brain
5	chr8:91998400-92030200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:91998600-92030000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:91998600-92030200	Weak transcription	Fetal Stomach	stomach
8	chr8:91998600-92030200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:91998600-92030400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:92000400-92029000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:92003800-92040200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:92008000-92028800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:92008600-92028600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:92009000-92030200	Weak transcription	Brain Angular Gyrus	brain
15	chr8:92009200-92028800	Weak transcription	Brain Anterior Caudate	brain
16	chr8:92013400-92030200	Weak transcription	Lung	lung
17	chr8:92014600-92033000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:92014800-92032400	Weak transcription	Spleen	Spleen
19	chr8:92015800-92052200	Weak transcription	Pancreas	Pancrea
20	chr8:92018400-92028800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:92023600-92045600	Weak transcription	Right Ventricle	heart
22	chr8:92024400-92028600	Weak transcription	Brain Substantia Nigra	brain
23	chr8:92024400-92030200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:92025200-92032400	Strong transcription	Placenta	Placenta
25	chr8:92025400-92032600	Strong transcription	Fetal Thymus	thymus
26	chr8:92025800-92028200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:92026000-92038400	Weak transcription	Esophagus	oesophagus
28	chr8:92026200-92029400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:92026200-92030600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:92026200-92031000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:92026200-92031800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:92026400-92028200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr8:92026400-92028200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr8:92026400-92028800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:92026400-92029000	ZNF genes & repeats	HMEC	breast
36	chr8:92026400-92029200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:92026400-92029200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr8:92026400-92029200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr8:92026400-92029400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:92026400-92029400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr8:92026400-92029400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr8:92026400-92029400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr8:92026400-92029600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:92026400-92029600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:92026400-92030800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:92026400-92032200	Strong transcription	Thymus	Thymus
47	chr8:92026400-92032400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:92026400-92032600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:92026600-92028200	ZNF genes & repeats	Fetal Lung	lung
50	chr8:92026600-92028600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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