Variant report

Variant	rs72889774
Chromosome Location	chr3:46129266-46129267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46129194..46130042-chr3:46249363..46250701,8	MCF-7	breast:
2	chr3:46129217..46131683-chr3:46137784..46140762,2	MCF-7	breast:
3	chr3:46129122..46129911-chr3:46249596..46250432,2	MCF-7	breast:
4	chr3:46123578..46126069-chr3:46127195..46129826,3	K562	blood:

Variant related genes	Relation type
ENSG00000163823	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs55830589	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55892227	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55956323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56049139	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56090968	0.87[AMR][1000 genomes]
rs56405718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56905314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57383235	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57570169	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58310007	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58381747	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58403651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58477700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59173279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59463328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59539425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60853701	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61415158	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72887919	0.85[AMR][1000 genomes]
rs72889740	0.85[AMR][1000 genomes]
rs72889757	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889763	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72891124	0.85[AMR][1000 genomes]
rs72891503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72891504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72891505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72891509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72891511	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72907767	0.85[AMR][1000 genomes]
rs73830741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830748	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73830756	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830758	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46120800-46129400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr3:46123200-46129600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr3:46123400-46130400	Weak transcription	Adipose Nuclei	Adipose
4	chr3:46125800-46130600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:46126200-46132600	Weak transcription	Right Atrium	heart
6	chr3:46127200-46138200	Weak transcription	Primary T cells from cord blood	blood
7	chr3:46127400-46130600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr3:46127600-46129400	Enhancers	Hela-S3	cervix
9	chr3:46127600-46130200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:46127600-46130200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:46127600-46130400	Weak transcription	HMEC	breast
12	chr3:46127600-46130400	Weak transcription	NHDF-Ad	bronchial
13	chr3:46127600-46130600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:46127800-46130400	Weak transcription	NHEK	skin
15	chr3:46127800-46130600	Weak transcription	Placenta	Placenta
16	chr3:46128000-46130400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:46128200-46130200	Weak transcription	Spleen	Spleen
18	chr3:46128200-46130400	Weak transcription	Fetal Lung	lung
19	chr3:46128200-46130600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:46128200-46131000	Weak transcription	Esophagus	oesophagus
21	chr3:46128400-46130400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:46128400-46130400	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:46128400-46130400	Weak transcription	HSMMtube	muscle
24	chr3:46128400-46130600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:46129200-46129800	Weak transcription	Fetal Thymus	thymus
26	chr3:46129200-46130200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr3:46129200-46132000	Weak transcription	Dnd41	blood
28	chr3:46129200-46147400	Enhancers	Primary monocytes fromperipheralblood	blood

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