Variant report

Variant	rs6988812
Chromosome Location	chr8:54710742-54710743
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	chr8:54709889..54711878-chr8:54714434..54716224,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1031979	0.84[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1031980	0.84[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10435587	0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11994467	0.85[ASN][1000 genomes]
rs11996300	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12056486	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12056719	0.84[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12115070	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12234972	0.84[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13276766	0.83[ASN][1000 genomes]
rs1552148	0.84[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919507	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16919508	0.84[EUR][1000 genomes]
rs16919522	0.84[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919534	0.84[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16919537	0.90[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs16919541	0.81[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs16919563	0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919571	0.84[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919573	0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1872063	0.84[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1905061	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2128150	0.84[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2170444	0.84[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2376011	0.84[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3735831	0.84[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757954	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41321146	0.84[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4236945	0.84[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737192	0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737518	0.84[EUR][1000 genomes]
rs4737554	0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4737558	0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4737753	0.84[EUR][1000 genomes]
rs4737761	0.84[EUR][1000 genomes]
rs4737764	0.84[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737765	0.84[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737821	0.84[CHB][hapmap];0.94[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737974	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4738025	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4738027	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4738470	0.83[ASN][1000 genomes]
rs4738646	0.90[ASN][1000 genomes]
rs4738884	0.84[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs4738916	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55876329	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55964335	0.95[ASN][1000 genomes]
rs56818292	0.90[ASN][1000 genomes]
rs56956173	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56973376	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57071607	0.92[EUR][1000 genomes]
rs58473841	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58558817	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58970885	0.84[EUR][1000 genomes]
rs61070518	0.85[ASN][1000 genomes]
rs6473893	0.88[EUR][1000 genomes]
rs6984257	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986372	0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6987427	0.84[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6988009	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6988808	0.92[EUR][1000 genomes]
rs6994851	0.90[EUR][1000 genomes]
rs6997003	0.89[CHB][hapmap];0.94[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997127	0.84[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999454	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7005696	0.86[EUR][1000 genomes]
rs7009705	0.84[EUR][1000 genomes]
rs7018162	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73587624	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73587627	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73680316	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73680321	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682549	0.83[EUR][1000 genomes]
rs73682551	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73682555	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73682568	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73682570	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7387704	0.82[AMR][1000 genomes]
rs7843701	0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs900163	0.84[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs958268	0.84[EUR][1000 genomes]
rs9643480	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643819	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643820	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
2	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:54681000-54726200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
5	chr8:54687600-54711400	Weak transcription	NHDF-Ad	bronchial
6	chr8:54687600-54753600	Weak transcription	A549	lung
7	chr8:54687800-54712400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:54688000-54712000	Weak transcription	Spleen	Spleen
9	chr8:54688000-54712200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:54691800-54726400	Weak transcription	Stomach Mucosa	stomach
11	chr8:54698600-54712200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:54698600-54716000	Weak transcription	Fetal Heart	heart
13	chr8:54699200-54712000	Weak transcription	Pancreas	Pancrea
14	chr8:54699200-54720000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:54700000-54740400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:54700200-54731600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:54700400-54714800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:54700800-54715200	Strong transcription	Dnd41	blood
19	chr8:54701000-54712600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:54702600-54713800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:54702600-54714600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:54702800-54711000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:54703000-54715400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr8:54703000-54728000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:54703200-54714800	Strong transcription	Primary B cells from cord blood	blood
26	chr8:54703400-54725200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:54704000-54721600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:54704200-54712000	Weak transcription	Fetal Lung	lung
29	chr8:54704400-54712000	Weak transcription	Aorta	Aorta
30	chr8:54704400-54712000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:54704400-54720000	Weak transcription	Brain Substantia Nigra	brain
32	chr8:54704800-54711800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:54705000-54712400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:54705000-54714600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:54705200-54712200	Weak transcription	Gastric	stomach
36	chr8:54705200-54726000	Weak transcription	Right Ventricle	heart
37	chr8:54705200-54726200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:54705400-54727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:54705600-54712600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:54706200-54711400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:54706200-54714800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:54706200-54715000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr8:54706400-54714600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:54707200-54714800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:54707400-54714600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:54707800-54711800	Weak transcription	Hela-S3	cervix
47	chr8:54707800-54740400	Weak transcription	K562	blood
48	chr8:54708000-54712000	Weak transcription	Brain Anterior Caudate	brain
49	chr8:54708000-54725800	Weak transcription	Fetal Kidney	kidney
50	chr8:54708000-54726200	Weak transcription	HepG2	liver

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