Variant report

Variant	rs73219471
Chromosome Location	chr21:41167915-41167916
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	chr21:41161226..41165062-chr21:41165469..41170017,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183067	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs16998635	0.82[AMR][1000 genomes]
rs2410184	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2837182	0.89[EUR][1000 genomes]
rs2837205	0.95[ASN][1000 genomes]
rs2837210	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837235	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2837238	0.82[AMR][1000 genomes]
rs2837241	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2837242	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2837251	0.86[EUR][1000 genomes]
rs2898386	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4390832	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs456334	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs456685	0.95[ASN][1000 genomes]
rs457024	0.95[ASN][1000 genomes]
rs461238	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs463119	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs463652	0.95[ASN][1000 genomes]
rs55684706	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55742790	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55760722	0.82[AMR][1000 genomes]
rs55781625	0.95[ASN][1000 genomes]
rs55884303	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55909108	0.82[AMR][1000 genomes]
rs55909830	0.82[AMR][1000 genomes]
rs55926748	0.82[AMR][1000 genomes]
rs56090566	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56124117	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56347307	0.82[AMR][1000 genomes]
rs56373284	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56374307	0.82[AMR][1000 genomes]
rs57470272	0.85[EUR][1000 genomes]
rs57759710	0.85[EUR][1000 genomes]
rs57782102	0.82[AMR][1000 genomes]
rs58188293	0.82[AMR][1000 genomes]
rs59131687	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60383387	0.82[AMR][1000 genomes]
rs61005556	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61549838	0.82[AMR][1000 genomes]
rs66495451	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66560117	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66704860	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66722528	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67044789	0.82[AMR][1000 genomes]
rs67613662	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67684072	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67941032	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs68176580	0.82[AMR][1000 genomes]
rs7278863	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7279032	0.82[AMR][1000 genomes]
rs7281712	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7283816	0.82[AMR][1000 genomes]
rs73217271	0.88[EUR][1000 genomes]
rs73219408	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73219473	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73219487	0.88[EUR][1000 genomes]
rs73219495	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73221214	0.82[AMR][1000 genomes]
rs73221215	0.82[AMR][1000 genomes]
rs73221226	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73221227	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73221254	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8128761	0.95[ASN][1000 genomes]
rs8133712	0.87[EUR][1000 genomes]
rs9680296	0.91[AMR][1000 genomes]
rs986350	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
3	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834099	chr21:41076873-41206030	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41161000-41171000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr21:41161200-41168000	Weak transcription	Right Ventricle	heart
3	chr21:41161400-41170400	Weak transcription	Right Atrium	heart
4	chr21:41161400-41180000	Weak transcription	Pancreas	Pancrea
5	chr21:41162600-41170200	Weak transcription	Left Ventricle	heart
6	chr21:41163600-41170400	Weak transcription	Fetal Heart	heart
7	chr21:41164200-41185600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:41165800-41168200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:41166000-41168600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:41166200-41173200	Weak transcription	Placenta	Placenta
11	chr21:41167800-41168600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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