Variant report

Variant	rs229340
Chromosome Location	chr21:44955403-44955404
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	chr21:44943572..44946304-chr21:44954087..44956765,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1003280	0.81[ASN][1000 genomes]
rs1073522	0.82[ASN][1000 genomes]
rs1122873	0.80[ASN][1000 genomes]
rs12626757	0.81[ASN][1000 genomes]
rs1378079	0.82[ASN][1000 genomes]
rs1378080	0.82[ASN][1000 genomes]
rs141521	0.84[ASN][1000 genomes]
rs1454650	0.81[ASN][1000 genomes]
rs1454651	0.81[ASN][1000 genomes]
rs1584917	0.80[ASN][1000 genomes]
rs1584918	0.80[ASN][1000 genomes]
rs162343	0.89[ASN][1000 genomes]
rs162344	0.85[ASN][1000 genomes]
rs162345	0.85[ASN][1000 genomes]
rs162366	0.82[ASN][1000 genomes]
rs162368	0.82[ASN][1000 genomes]
rs162369	0.83[ASN][1000 genomes]
rs162371	0.81[ASN][1000 genomes]
rs162372	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162374	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs162375	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs162376	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs162377	0.81[ASN][1000 genomes]
rs162378	0.80[ASN][1000 genomes]
rs162389	0.82[ASN][1000 genomes]
rs162391	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs162393	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs162394	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs162395	0.82[ASN][1000 genomes]
rs162396	0.82[ASN][1000 genomes]
rs162398	0.82[ASN][1000 genomes]
rs162399	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs162400	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs162402	0.84[ASN][1000 genomes]
rs162403	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs162404	0.82[ASN][1000 genomes]
rs167930	0.85[ASN][1000 genomes]
rs189094	0.83[ASN][1000 genomes]
rs229357	0.81[ASN][1000 genomes]
rs230647	0.82[EUR][1000 genomes]
rs2329442	0.80[ASN][1000 genomes]
rs2838316	0.81[ASN][1000 genomes]
rs2838317	0.81[ASN][1000 genomes]
rs2838319	0.81[ASN][1000 genomes]
rs2838320	0.81[EUR][1000 genomes]
rs2838321	0.81[ASN][1000 genomes]
rs2838322	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838323	0.81[ASN][1000 genomes]
rs2838324	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838328	0.82[ASN][1000 genomes]
rs2838329	0.82[ASN][1000 genomes]
rs2838330	0.82[ASN][1000 genomes]
rs2838331	0.82[ASN][1000 genomes]
rs28840140	0.80[ASN][1000 genomes]
rs3788062	0.81[ASN][1000 genomes]
rs4818843	0.81[ASN][1000 genomes]
rs4818850	0.82[ASN][1000 genomes]
rs4818856	0.80[ASN][1000 genomes]
rs4819264	0.80[ASN][1000 genomes]
rs4819270	0.82[ASN][1000 genomes]
rs6518301	0.81[ASN][1000 genomes]
rs6518302	0.82[ASN][1000 genomes]
rs6518309	0.80[ASN][1000 genomes]
rs7279958	0.82[ASN][1000 genomes]
rs7282933	0.80[ASN][1000 genomes]
rs86138	0.83[ASN][1000 genomes]
rs86139	0.83[ASN][1000 genomes]
rs9976441	0.80[ASN][1000 genomes]
rs9978811	0.81[ASN][1000 genomes]
rs9981291	0.82[ASN][1000 genomes]
rs9981790	0.80[ASN][1000 genomes]
rs9983763	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
4	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
5	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	esv1837818	chr21:44949285-44987079	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44943400-44956800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:44946800-44962800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:44949600-44957600	Weak transcription	HSMMtube	muscle
4	chr21:44949800-44956800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:44951200-44959400	Weak transcription	Right Atrium	heart
6	chr21:44952400-44962600	Weak transcription	HSMM	muscle
7	chr21:44953800-44956600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:44955400-44955800	Weak transcription	NHEK	skin

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