Variant report

Variant	rs4818833
Chromosome Location	chr21:44989547-44989548
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	chr21:44987407..44990034-chr21:44993594..44995506,2	K562	blood:
2	chr21:44989424..44992268-chr21:44992399..44995475,4	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1003280	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1073522	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1122873	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12626757	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1378079	0.93[ASN][1000 genomes]
rs1378080	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs141521	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1454650	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1454651	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1584917	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1584918	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162343	0.83[ASN][1000 genomes]
rs162344	0.90[ASN][1000 genomes]
rs162345	0.90[ASN][1000 genomes]
rs162366	0.87[ASN][1000 genomes]
rs162367	0.83[ASN][1000 genomes]
rs162368	0.87[ASN][1000 genomes]
rs162369	0.88[ASN][1000 genomes]
rs162371	0.86[ASN][1000 genomes]
rs162372	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs162373	0.84[ASN][1000 genomes]
rs162374	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162375	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162376	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162377	0.86[ASN][1000 genomes]
rs162378	0.85[ASN][1000 genomes]
rs162380	0.83[ASN][1000 genomes]
rs162381	0.83[ASN][1000 genomes]
rs162388	0.84[ASN][1000 genomes]
rs162389	0.87[ASN][1000 genomes]
rs162390	0.82[ASN][1000 genomes]
rs162391	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs162393	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162394	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs162395	0.87[ASN][1000 genomes]
rs162396	0.87[ASN][1000 genomes]
rs162398	0.87[ASN][1000 genomes]
rs162399	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162400	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs162402	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs162403	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs162404	0.89[ASN][1000 genomes]
rs167930	0.90[ASN][1000 genomes]
rs189094	0.88[ASN][1000 genomes]
rs229357	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs230640	0.83[ASN][1000 genomes]
rs230642	0.83[ASN][1000 genomes]
rs230643	0.83[ASN][1000 genomes]
rs230646	0.83[ASN][1000 genomes]
rs230647	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2329442	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838316	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838317	0.94[ASN][1000 genomes]
rs2838319	0.94[ASN][1000 genomes]
rs2838320	0.94[EUR][1000 genomes]
rs2838321	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838322	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838323	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838324	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838328	0.93[ASN][1000 genomes]
rs2838329	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838330	0.93[ASN][1000 genomes]
rs2838331	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28840140	0.87[ASN][1000 genomes]
rs3788062	0.94[ASN][1000 genomes]
rs463738	0.83[ASN][1000 genomes]
rs4818843	0.94[ASN][1000 genomes]
rs4818850	0.93[ASN][1000 genomes]
rs4818856	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4819264	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4819270	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4997353	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6417729	0.81[EUR][1000 genomes]
rs6518301	0.92[ASN][1000 genomes]
rs6518302	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6518309	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7276215	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7276316	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7277539	0.83[EUR][1000 genomes]
rs7278003	0.81[EUR][1000 genomes]
rs7279958	0.93[ASN][1000 genomes]
rs7282933	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs86138	0.88[ASN][1000 genomes]
rs86139	0.88[ASN][1000 genomes]
rs91424	0.83[ASN][1000 genomes]
rs9976441	0.87[ASN][1000 genomes]
rs9978811	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9981291	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9981790	0.87[ASN][1000 genomes]
rs9983763	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][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	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv3537	chr21:44967340-45013104	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr21:44980400-44998400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:44983000-44991800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:44983000-44993400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:44984000-44990600	Weak transcription	Fetal Brain Female	brain
5	chr21:44985000-44991200	Weak transcription	Adipose Nuclei	Adipose
6	chr21:44987200-44994600	Weak transcription	Spleen	Spleen
7	chr21:44987200-45005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:44987200-45005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:44988000-44993800	Enhancers	Fetal Muscle Leg	muscle
10	chr21:44988200-44993200	Enhancers	HSMM	muscle
11	chr21:44988400-44989800	Enhancers	Fetal Muscle Trunk	muscle
12	chr21:44988800-44994000	Enhancers	Fetal Brain Male	brain
13	chr21:44988800-44996600	Enhancers	HSMMtube	muscle
14	chr21:44989000-44992000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:44989000-44998000	Weak transcription	Gastric	stomach
16	chr21:44989400-44989800	Weak transcription	Fetal Stomach	stomach

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