Variant report

Variant	rs71324443
Chromosome Location	chr21:47160758-47160759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47122343..47125254-chr21:47159876..47161705,2	MCF-7	breast:
2	chr21:47160682..47161200-chr21:47188262..47189008,2	MCF-7	breast:
3	chr21:47160450..47161017-chr21:47239857..47240766,2	MCF-7	breast:
4	chr21:47158414..47160946-chr21:47163117..47165141,2	MCF-7	breast:
5	chr21:47061487..47064161-chr21:47158776..47160819,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13047397	1.00[AFR][1000 genomes]
rs13049610	1.00[AFR][1000 genomes]
rs13050195	1.00[AFR][1000 genomes]
rs13051682	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2330186	1.00[AFR][1000 genomes]
rs34223052	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs34288474	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34396939	1.00[AFR][1000 genomes]
rs34959654	1.00[AFR][1000 genomes]
rs35943749	1.00[AFR][1000 genomes]
rs4819131	1.00[AFR][1000 genomes]
rs4819132	1.00[AFR][1000 genomes]
rs6518255	1.00[AFR][1000 genomes]
rs71324442	1.00[AFR][1000 genomes]
rs71324447	1.00[AFR][1000 genomes]
rs71324449	1.00[AFR][1000 genomes]
rs71324455	1.00[AFR][1000 genomes]
rs7276295	1.00[AFR][1000 genomes]
rs7282487	1.00[AFR][1000 genomes]
rs9637203	1.00[AFR][1000 genomes]
rs9637204	1.00[AFR][1000 genomes]
rs9984824	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv1063957	chr21:47090475-47168291	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv1062702	chr21:47095762-47169369	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
10	nsv544493	chr21:47095762-47169369	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47135600-47165000	Weak transcription	Primary T cells from cord blood	blood
2	chr21:47144200-47167600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:47151800-47164800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:47153200-47165400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:47156600-47168000	Weak transcription	Brain Angular Gyrus	brain
6	chr21:47156800-47164800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr21:47157000-47168200	Weak transcription	Brain Hippocampus Middle	brain
8	chr21:47157600-47165000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:47157800-47160800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:47157800-47167400	Weak transcription	HSMMtube	muscle
11	chr21:47158000-47165400	Weak transcription	Dnd41	blood
12	chr21:47158800-47169800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr21:47159000-47168000	Weak transcription	Brain Anterior Caudate	brain
14	chr21:47159600-47160800	Enhancers	Spleen	Spleen
15	chr21:47160000-47160800	Enhancers	Adipose Nuclei	Adipose
16	chr21:47160000-47161000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr21:47160000-47161400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:47160000-47164800	Weak transcription	Thymus	Thymus
19	chr21:47160200-47164200	Weak transcription	Fetal Thymus	thymus
20	chr21:47160400-47161400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:47160600-47160800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:47160600-47165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:47160600-47165600	Weak transcription	Gastric	stomach

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