Variant report

Variant	rs55876329
Chromosome Location	chr8:54688523-54688524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54685269..54687285-chr8:54688387..54691070,4	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1031979	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031980	0.98[ASN][1000 genomes]
rs10435587	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11994467	0.85[ASN][1000 genomes]
rs11996300	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12056486	0.95[ASN][1000 genomes]
rs12056719	0.92[ASN][1000 genomes]
rs12234972	0.94[ASN][1000 genomes]
rs13276766	0.83[ASN][1000 genomes]
rs1552148	0.94[ASN][1000 genomes]
rs16919507	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16919522	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16919534	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16919537	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16919541	0.93[ASN][1000 genomes]
rs16919563	0.95[ASN][1000 genomes]
rs16919571	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919573	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1872063	0.94[ASN][1000 genomes]
rs1905061	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2128150	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2170444	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2376011	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3735831	0.93[ASN][1000 genomes]
rs3757954	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs41321146	0.92[ASN][1000 genomes]
rs4236945	0.98[ASN][1000 genomes]
rs4737192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737554	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4737558	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4737753	0.86[EUR][1000 genomes]
rs4737761	0.86[EUR][1000 genomes]
rs4737764	0.98[ASN][1000 genomes]
rs4737765	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737821	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4738470	0.83[ASN][1000 genomes]
rs4738646	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4738884	0.93[ASN][1000 genomes]
rs4738916	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55964335	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56818292	0.87[ASN][1000 genomes]
rs56973376	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58473841	0.83[ASN][1000 genomes]
rs58558817	0.92[ASN][1000 genomes]
rs61070518	0.85[ASN][1000 genomes]
rs6473893	0.91[EUR][1000 genomes]
rs6984257	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6986372	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6987427	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988009	0.94[ASN][1000 genomes]
rs6988812	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6994851	0.88[EUR][1000 genomes]
rs6997003	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6997127	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6999454	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7005696	0.88[EUR][1000 genomes]
rs7006934	0.80[EUR][1000 genomes]
rs7018162	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73587624	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73587627	0.83[ASN][1000 genomes]
rs73682549	0.82[EUR][1000 genomes]
rs73682551	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73682552	0.81[AMR][1000 genomes]
rs73682555	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73682568	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73682570	0.96[ASN][1000 genomes]
rs7843701	0.95[ASN][1000 genomes]
rs900163	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643480	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9643819	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9643820	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
2	chr8:54655400-54703600	Weak transcription	Brain Angular Gyrus	brain
3	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
4	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:54668000-54703000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:54673400-54698200	Weak transcription	Pancreas	Pancrea
7	chr8:54673400-54698400	Weak transcription	Gastric	stomach
8	chr8:54673400-54703000	Weak transcription	Left Ventricle	heart
9	chr8:54673400-54704000	Weak transcription	Right Ventricle	heart
10	chr8:54673600-54691200	Weak transcription	HepG2	liver
11	chr8:54675200-54689000	Weak transcription	Fetal Heart	heart
12	chr8:54676600-54702800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:54676600-54703200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:54676600-54703800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:54681000-54689000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:54681000-54707400	Weak transcription	NHLF	lung
17	chr8:54681000-54726200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:54681200-54704000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:54681200-54707400	Weak transcription	Hela-S3	cervix
20	chr8:54681400-54691200	Weak transcription	Stomach Mucosa	stomach
21	chr8:54681400-54699000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:54681400-54703200	Weak transcription	NHEK	skin
23	chr8:54681400-54703800	Weak transcription	HMEC	breast
24	chr8:54681400-54707600	Weak transcription	NH-A	brain
25	chr8:54682000-54690400	Weak transcription	K562	blood
26	chr8:54682200-54698200	Weak transcription	Fetal Kidney	kidney
27	chr8:54682200-54703800	Weak transcription	Brain Anterior Caudate	brain
28	chr8:54682600-54699000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:54682600-54699200	Weak transcription	HSMM	muscle
30	chr8:54683000-54702800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:54683800-54698200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:54684000-54689000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:54684000-54698400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:54684200-54689000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:54684600-54692200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:54685000-54699000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:54685200-54688800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:54685200-54699000	Weak transcription	Dnd41	blood
39	chr8:54685400-54691400	Weak transcription	Primary T cells from cord blood	blood
40	chr8:54686000-54689000	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:54686000-54689200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr8:54686000-54689200	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
44	chr8:54686600-54689200	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr8:54686800-54689400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:54687200-54689200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
47	chr8:54687200-54689200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:54687400-54689200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:54687400-54689200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:54687400-54689200	Strong transcription	Fetal Stomach	stomach

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