Variant report

Variant	rs162393
Chromosome Location	chr21:44942692-44942693
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	chr21:44940137..44942720-chr21:45027959..45031843,3	MCF-7	breast:
2	chr21:44935195..44942837-chr21:45027341..45034401,13	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1003280	0.93[ASN][1000 genomes]
rs1073522	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1122873	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12626757	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1378079	0.94[ASN][1000 genomes]
rs1378080	0.94[ASN][1000 genomes]
rs141521	0.96[ASN][1000 genomes]
rs1454648	0.82[ASN][1000 genomes]
rs1454650	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1454651	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1584917	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1584918	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1598206	0.82[ASN][1000 genomes]
rs162343	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162344	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162345	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162366	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162367	0.96[ASN][1000 genomes]
rs162368	0.94[ASN][1000 genomes]
rs162369	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs162371	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs162372	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs162373	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs162374	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162375	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162376	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162377	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs162378	0.92[ASN][1000 genomes]
rs162380	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs162381	0.95[ASN][1000 genomes]
rs162388	0.91[ASN][1000 genomes]
rs162389	0.94[ASN][1000 genomes]
rs162390	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162391	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162392	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs162394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162395	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162396	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162398	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162399	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162400	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162401	0.80[EUR][1000 genomes]
rs162402	0.96[ASN][1000 genomes]
rs162403	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162404	0.94[ASN][1000 genomes]
rs167930	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs189094	0.95[ASN][1000 genomes]
rs2246602	0.82[ASN][1000 genomes]
rs229340	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs229357	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs230640	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs230642	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs230643	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs230644	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs230645	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs230646	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs230647	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2329442	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2329443	0.81[ASN][1000 genomes]
rs2838316	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838317	0.93[ASN][1000 genomes]
rs2838319	0.93[ASN][1000 genomes]
rs2838320	0.91[EUR][1000 genomes]
rs2838321	0.93[ASN][1000 genomes]
rs2838322	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838323	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838324	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838328	0.94[ASN][1000 genomes]
rs2838329	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838330	0.94[ASN][1000 genomes]
rs2838331	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838337	0.80[ASN][1000 genomes]
rs28840140	0.92[ASN][1000 genomes]
rs3788062	0.93[ASN][1000 genomes]
rs463738	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4818833	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4818843	0.93[ASN][1000 genomes]
rs4818850	0.94[ASN][1000 genomes]
rs4818856	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4819264	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4819270	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4997353	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6417729	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6518301	0.93[ASN][1000 genomes]
rs6518302	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6518309	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7275705	0.82[ASN][1000 genomes]
rs7276215	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7276316	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7277539	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7278003	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7279958	0.94[ASN][1000 genomes]
rs7282933	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs86138	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs86139	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs91424	0.95[ASN][1000 genomes]
rs9306159	0.82[ASN][1000 genomes]
rs9974710	0.81[ASN][1000 genomes]
rs9976441	0.92[ASN][1000 genomes]
rs9977258	0.80[AFR][1000 genomes]
rs9978811	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9980185	0.82[ASN][1000 genomes]
rs9981291	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9981790	0.92[ASN][1000 genomes]
rs9983763	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9984002	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv1059264	chr21:44895863-44944515	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44929200-44943400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr21:44929600-44943400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:44929800-44943600	Enhancers	HMEC	breast
4	chr21:44935400-44943400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:44937400-44946000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:44937600-44943000	Enhancers	A549	lung
7	chr21:44937600-44943600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:44938600-44943400	Enhancers	NHEK	skin
9	chr21:44938600-44945400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr21:44938600-44946000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr21:44939200-44943400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:44940400-44945400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr21:44940400-44945400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:44940400-44946000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:44941000-44945400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr21:44941000-44949400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:44941600-44943200	Enhancers	Hela-S3	cervix
18	chr21:44942000-44943000	Enhancers	Fetal Intestine Large	intestine
19	chr21:44942000-44943200	Enhancers	Fetal Intestine Small	intestine
20	chr21:44942200-44942800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:44942400-44942800	Enhancers	HSMMtube	muscle
22	chr21:44942400-44943000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:44942400-44943000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr21:44942400-44943000	Enhancers	Esophagus	oesophagus
25	chr21:44942400-44943000	Enhancers	HSMM	muscle
26	chr21:44942400-44943200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:44942600-44945600	Enhancers	HepG2	liver

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