Variant report

Variant	rs61514087
Chromosome Location	chr8:61433805-61433806
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	PBX3	chr8:61433578-61434024	SK-N-SH	brain:	n/a	n/a
2	MEF2A	chr8:61433536-61434055	SK-N-SH	brain:	n/a	chr8:61433881-61433895

Variant related genes	Relation type
ENSG00000251396	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs16926265	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926273	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56957672	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57207257	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57310966	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58443130	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58486252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58847436	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58916286	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59531479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	1.00[EUR][1000 genomes]
rs60448147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60730808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60880721	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61277001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990951	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003631	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243809	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255451	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257441	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257447	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257451	0.90[AMR][1000 genomes]
rs73257453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257475	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259409	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259436	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259456	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259478	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259486	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261229	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261235	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261240	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261257	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261277	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826092	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839296	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846100	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61428600-61434400	Active TSS	GM12878-XiMat	blood
2	chr8:61431000-61435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr8:61431000-61436600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:61431000-61438200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:61431200-61434800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:61431200-61438200	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:61431600-61438200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:61431600-61441600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:61431800-61435600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:61432000-61434000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:61432000-61434400	Weak transcription	Esophagus	oesophagus
13	chr8:61432000-61434400	Weak transcription	Spleen	Spleen
14	chr8:61432000-61434600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:61432000-61434800	Enhancers	Brain Substantia Nigra	brain
16	chr8:61432000-61434800	Enhancers	Colon Smooth Muscle	Colon
17	chr8:61432000-61435400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:61432000-61435600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr8:61432000-61437600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr8:61432000-61439200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:61432000-61440200	Enhancers	Liver	Liver
22	chr8:61432200-61434000	Enhancers	Fetal Lung	lung
23	chr8:61432200-61434200	Enhancers	NHDF-Ad	bronchial
24	chr8:61432200-61434400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:61432200-61434400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:61432200-61434400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:61432200-61434400	Weak transcription	Fetal Kidney	kidney
28	chr8:61432200-61434400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:61432200-61434400	Enhancers	Hela-S3	cervix
30	chr8:61432200-61434400	Enhancers	HSMM	muscle
31	chr8:61432200-61434800	Enhancers	HMEC	breast
32	chr8:61432200-61435200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:61432200-61435400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:61432200-61435400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:61432200-61435400	Enhancers	HepG2	liver
36	chr8:61432200-61435400	Enhancers	NHEK	skin
37	chr8:61432200-61436000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:61432200-61436600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:61432200-61437800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:61432400-61434000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:61432400-61435400	Enhancers	Duodenum Mucosa	Duodenum
42	chr8:61432600-61434200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:61432600-61434400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:61432600-61434600	Weak transcription	Brain Angular Gyrus	brain
45	chr8:61432600-61435000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:61432600-61435000	Enhancers	Brain Anterior Caudate	brain
47	chr8:61432600-61435400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr8:61432600-61435400	Enhancers	NH-A	brain
49	chr8:61432600-61435600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr8:61432600-61436600	Weak transcription	Fetal Brain Male	brain

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