Variant report

Variant	rs2329443
Chromosome Location	chr21:45059431-45059432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45029356..45032047-chr21:45057699..45061512,4	MCF-7	breast:
2	chr21:44929426..44931818-chr21:45057155..45059998,2	MCF-7	breast:
3	chr21:44922069..44925059-chr21:45056481..45060092,4	MCF-7	breast:

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1003280	0.82[ASN][1000 genomes]
rs1073522	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11089093	0.82[EUR][1000 genomes]
rs1122873	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11702544	0.83[EUR][1000 genomes]
rs11909064	0.84[EUR][1000 genomes]
rs12626757	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12627667	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1378079	0.83[ASN][1000 genomes]
rs1378080	0.83[ASN][1000 genomes]
rs141521	0.85[ASN][1000 genomes]
rs1454648	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1454650	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1454651	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1584917	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1584918	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1598206	0.99[ASN][1000 genomes]
rs162344	0.84[ASN][1000 genomes]
rs162345	0.84[ASN][1000 genomes]
rs162366	0.83[ASN][1000 genomes]
rs162368	0.83[ASN][1000 genomes]
rs162369	0.82[ASN][1000 genomes]
rs162371	0.80[ASN][1000 genomes]
rs162372	0.82[ASN][1000 genomes]
rs162374	0.80[ASN][1000 genomes]
rs162375	0.80[ASN][1000 genomes]
rs162376	0.80[ASN][1000 genomes]
rs162377	0.80[ASN][1000 genomes]
rs162388	0.80[ASN][1000 genomes]
rs162389	0.83[ASN][1000 genomes]
rs162393	0.81[ASN][1000 genomes]
rs162394	0.84[ASN][1000 genomes]
rs162395	0.81[ASN][1000 genomes]
rs162396	0.81[ASN][1000 genomes]
rs162398	0.81[ASN][1000 genomes]
rs162399	0.81[ASN][1000 genomes]
rs162400	0.81[ASN][1000 genomes]
rs162402	0.85[ASN][1000 genomes]
rs162403	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs162404	0.83[ASN][1000 genomes]
rs167930	0.84[ASN][1000 genomes]
rs189094	0.82[ASN][1000 genomes]
rs2051407	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2236665	0.84[EUR][1000 genomes]
rs2246602	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2251253	0.83[EUR][1000 genomes]
rs2282526	0.96[EUR][1000 genomes]
rs229357	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2329442	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838316	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838317	0.82[ASN][1000 genomes]
rs2838319	0.82[ASN][1000 genomes]
rs2838320	0.82[EUR][1000 genomes]
rs2838321	0.82[ASN][1000 genomes]
rs2838322	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838323	0.82[ASN][1000 genomes]
rs2838324	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838328	0.83[ASN][1000 genomes]
rs2838329	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838330	0.83[ASN][1000 genomes]
rs2838331	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838336	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838337	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838338	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838339	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838340	0.80[EUR][1000 genomes]
rs2838341	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838342	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838343	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838344	0.84[EUR][1000 genomes]
rs2838345	0.83[EUR][1000 genomes]
rs2838348	0.84[EUR][1000 genomes]
rs28840140	0.89[ASN][1000 genomes]
rs35110281	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788062	0.82[ASN][1000 genomes]
rs3819161	0.88[AFR][1000 genomes]
rs4818843	0.82[ASN][1000 genomes]
rs4818850	0.83[ASN][1000 genomes]
rs4818856	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4819264	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4819270	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4819290	0.81[EUR][1000 genomes]
rs58451308	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6518301	0.82[ASN][1000 genomes]
rs6518302	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6518309	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7275705	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7276215	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7276633	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7277539	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7279958	0.83[ASN][1000 genomes]
rs7279968	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7282933	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8133523	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs86138	0.82[ASN][1000 genomes]
rs86139	0.82[ASN][1000 genomes]
rs9306159	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306160	0.84[EUR][1000 genomes]
rs969060	0.96[EUR][1000 genomes]
rs9974710	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9976441	0.89[ASN][1000 genomes]
rs9976443	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9977074	0.84[EUR][1000 genomes]
rs9977076	0.84[EUR][1000 genomes]
rs9978811	0.82[ASN][1000 genomes]
rs9978858	0.88[AFR][1000 genomes]
rs9980185	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9981291	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9981790	0.89[ASN][1000 genomes]
rs9983763	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9984002	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	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
6	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
7	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45049400-45064000	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:45049800-45059800	Weak transcription	Fetal Intestine Small	intestine
3	chr21:45052200-45065200	Weak transcription	Primary T cells from cord blood	blood
4	chr21:45052400-45060000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:45052600-45059800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:45052800-45060000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:45052800-45063200	Weak transcription	Fetal Brain Female	brain
8	chr21:45053200-45065200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:45054200-45062800	Weak transcription	Ovary	ovary
10	chr21:45054200-45063200	Weak transcription	HSMMtube	muscle
11	chr21:45054600-45059800	Weak transcription	NHDF-Ad	bronchial
12	chr21:45055000-45059800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:45055000-45063400	Weak transcription	HSMM	muscle
14	chr21:45057200-45061200	Weak transcription	Aorta	Aorta
15	chr21:45058200-45059600	Weak transcription	HepG2	liver
16	chr21:45058200-45059800	Enhancers	A549	lung
17	chr21:45058800-45065600	Weak transcription	Right Atrium	heart
18	chr21:45059000-45060600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:45059200-45060400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:45059200-45060400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr21:45059200-45061000	Enhancers	Hela-S3	cervix
22	chr21:45059400-45060400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:45059400-45060400	Enhancers	Fetal Lung	lung
24	chr21:45059400-45060600	Enhancers	NHEK	skin
25	chr21:45059400-45064200	Weak transcription	Fetal Stomach	stomach

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