Variant report

Variant	rs111471994
Chromosome Location	chr21:47165384-47165385
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47163262..47166071-chr21:47166179..47167744,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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	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
11	esv3438685	chr21:47163624-47168822	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
12	esv3377547	chr21:47164324-47167922	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	esv3395748	chr21:47164324-47168022	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47144200-47167600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:47153200-47165400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:47156600-47168000	Weak transcription	Brain Angular Gyrus	brain
4	chr21:47157000-47168200	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:47157800-47167400	Weak transcription	HSMMtube	muscle
6	chr21:47158000-47165400	Weak transcription	Dnd41	blood
7	chr21:47158800-47169800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr21:47159000-47168000	Weak transcription	Brain Anterior Caudate	brain
9	chr21:47160600-47165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:47160600-47165600	Weak transcription	Gastric	stomach
11	chr21:47160800-47165800	Weak transcription	Adipose Nuclei	Adipose
12	chr21:47161400-47165400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:47161400-47165400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:47161400-47165600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr21:47162400-47167200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:47162400-47167200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:47162400-47167600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:47163000-47165400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:47163000-47167400	Weak transcription	NHDF-Ad	bronchial
20	chr21:47164200-47165400	Strong transcription	Fetal Thymus	thymus
21	chr21:47164200-47167400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:47164400-47165800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr21:47164600-47166200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:47164600-47168000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr21:47164800-47165400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:47164800-47165600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr21:47164800-47165800	Enhancers	Fetal Stomach	stomach
28	chr21:47164800-47165800	Strong transcription	Spleen	Spleen
29	chr21:47164800-47166200	ZNF genes & repeats	Thymus	Thymus
30	chr21:47165000-47166200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:47165000-47166200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:47165000-47169000	Strong transcription	Primary T cells from cord blood	blood
33	chr21:47165200-47165600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
34	chr21:47165200-47166000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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