Variant report

Variant	rs28463085
Chromosome Location	chr6:45201442-45201443
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	chr6:45200553..45203015-chr6:45211837..45214861,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10080909	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10498759	0.85[EUR][1000 genomes]
rs16873073	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16873103	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs16873150	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs16873215	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16873351	0.86[EUR][1000 genomes]
rs2396374	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28877051	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34927422	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4582383	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58398217	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58892785	0.84[EUR][1000 genomes]
rs58902999	0.84[EUR][1000 genomes]
rs59379038	0.89[EUR][1000 genomes]
rs6901579	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6912047	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6925770	0.95[EUR][1000 genomes]
rs73441120	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73441122	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73441130	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73441184	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73444672	0.82[EUR][1000 genomes]
rs73444674	0.86[EUR][1000 genomes]
rs73444688	0.83[EUR][1000 genomes]
rs73444966	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73444983	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73447073	0.95[EUR][1000 genomes]
rs73451303	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7742332	0.95[EUR][1000 genomes]
rs7744673	0.84[EUR][1000 genomes]
rs7762957	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7764969	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9296451	0.95[EUR][1000 genomes]
rs9463058	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9463071	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9463079	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9463080	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9463082	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9472424	0.81[EUR][1000 genomes]
rs9472433	0.85[EUR][1000 genomes]
rs9472434	0.87[EUR][1000 genomes]
rs9472435	0.95[EUR][1000 genomes]
rs9472436	0.95[EUR][1000 genomes]
rs9472454	0.90[EUR][1000 genomes]
rs9472455	0.89[EUR][1000 genomes]
rs9472457	0.90[EUR][1000 genomes]
rs9472458	0.88[EUR][1000 genomes]
rs9472462	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9472464	0.85[EUR][1000 genomes]
rs9472465	0.86[EUR][1000 genomes]
rs9472466	0.86[EUR][1000 genomes]
rs9472468	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9472470	0.85[EUR][1000 genomes]
rs9472472	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv492309	chr6:45020402-45233484	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1032906	chr6:45069368-45212863	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1028068	chr6:45169010-45246577	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2763550	chr6:45186825-45275593	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45196800-45207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:45199600-45201600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:45200200-45201600	ZNF genes & repeats	Fetal Intestine Large	intestine
4	chr6:45201000-45201600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:45201000-45203400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:45201200-45201800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:45201200-45203400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:45201200-45203800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:45201200-45204800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:45201200-45210000	Weak transcription	Ovary	ovary
11	chr6:45201400-45203000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:45201400-45203400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:45201400-45204000	Weak transcription	Primary B cells from cord blood	blood
14	chr6:45201400-45204600	Weak transcription	Dnd41	blood
15	chr6:45201400-45207200	Weak transcription	Aorta	Aorta
16	chr6:45201400-45207800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:45201400-45211800	Weak transcription	Fetal Heart	heart

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