Variant report

Variant	rs4818855
Chromosome Location	chr21:45038951-45038952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45029752..45032331-chr21:45036634..45039497,2	MCF-7	breast:
2	chr21:45029800..45031671-chr21:45038220..45041944,3	MCF-7	breast:
3	chr21:44935247..44938888-chr21:45036868..45039173,3	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1003280	0.80[EUR][1000 genomes]
rs1122873	0.81[EUR][1000 genomes]
rs11701673	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12627667	0.82[EUR][1000 genomes]
rs1378079	0.83[EUR][1000 genomes]
rs1378080	0.82[EUR][1000 genomes]
rs2838317	0.87[EUR][1000 genomes]
rs2838318	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838319	0.87[EUR][1000 genomes]
rs2838321	0.80[EUR][1000 genomes]
rs2838323	0.81[EUR][1000 genomes]
rs2838325	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838326	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838328	0.83[EUR][1000 genomes]
rs2838330	0.91[EUR][1000 genomes]
rs2838336	0.82[EUR][1000 genomes]
rs2838340	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838341	0.81[EUR][1000 genomes]
rs28840140	0.85[EUR][1000 genomes]
rs3788062	0.88[EUR][1000 genomes]
rs4818843	0.88[EUR][1000 genomes]
rs4818850	0.83[EUR][1000 genomes]
rs4997353	0.81[EUR][1000 genomes]
rs58451308	0.80[EUR][1000 genomes]
rs6518301	0.80[EUR][1000 genomes]
rs7279958	0.91[EUR][1000 genomes]
rs7279968	0.80[EUR][1000 genomes]
rs8131005	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9976441	0.85[EUR][1000 genomes]
rs9976443	0.84[EUR][1000 genomes]
rs9978811	0.81[EUR][1000 genomes]
rs9981790	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45030200-45039400	Weak transcription	Right Atrium	heart
2	chr21:45030600-45042000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:45031800-45039400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:45031800-45039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:45031800-45039800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:45032200-45039200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:45032200-45039400	Weak transcription	Brain Germinal Matrix	brain
8	chr21:45032200-45040000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:45032200-45059200	Weak transcription	Hela-S3	cervix
10	chr21:45037800-45040200	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr21:45038200-45039200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr21:45038400-45039400	Weak transcription	Fetal Muscle Leg	muscle
13	chr21:45038400-45039400	Weak transcription	Stomach Mucosa	stomach
14	chr21:45038600-45039000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr21:45038600-45039400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr21:45038800-45039200	Weak transcription	Fetal Intestine Large	intestine

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