Variant report

Variant	rs58899441
Chromosome Location	chr6:45607619-45607620
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	chr6:45606805..45609759-chr6:45609969..45613635,3	K562	blood:
2	chr6:45606210..45607999-chr6:45616386..45618102,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56125920	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57847751	0.83[ASN][1000 genomes]
rs58033063	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59086975	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59194849	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60021834	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60089305	0.88[ASN][1000 genomes]
rs60365641	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60499694	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60653179	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60902957	0.88[ASN][1000 genomes]
rs61046945	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61433014	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61735894	0.85[EUR][1000 genomes]
rs61735906	0.85[EUR][1000 genomes]
rs73444596	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73446524	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73735415	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73735416	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73738524	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976319	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[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	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	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription 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 miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45604600-45609800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:45605000-45608600	Enhancers	HSMM	muscle
3	chr6:45605600-45607800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:45605600-45607800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:45606400-45607800	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:45606600-45608400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:45607000-45608800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:45607400-45608000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:45607400-45608200	Enhancers	HSMMtube	muscle
10	chr6:45607400-45608400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:45607400-45608400	Enhancers	NHLF	lung
12	chr6:45607400-45608600	Enhancers	Osteobl	bone
13	chr6:45607400-45608800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:45607400-45608800	Enhancers	NHDF-Ad	bronchial
15	chr6:45607400-45609600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:45607600-45607800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:45607600-45608000	Enhancers	Rectal Smooth Muscle	rectum
18	chr6:45607600-45608200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:45607600-45608200	Enhancers	Fetal Stomach	stomach
20	chr6:45607600-45608400	Enhancers	NH-A	brain
21	chr6:45607600-45608800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:45607600-45608800	Enhancers	NHEK	skin
23	chr6:45607600-45609000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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