Variant report

Variant	rs372674728
Chromosome Location	chr21:47656902-47656903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47656174..47658800-chr21:47703539..47705837,2	K562	blood:
2	chr21:47656850..47659762-chr21:47704126..47706741,2	MCF-7	breast:
3	chr21:47656119..47658355-chr21:47680181..47682317,2	K562	blood:

Variant related genes	Relation type
ENSG00000182362	Chromatin interaction
ENSG00000160294	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
6	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
7	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
8	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
9	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
10	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
12	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
13	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
14	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
16	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
17	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
18	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
19	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
20	nsv914134	chr21:47632995-47712185	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
21	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
22	esv3338276	chr21:47655324-47660422	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
23	esv3331332	chr21:47656124-47659822	Strong transcription Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
24	esv2641041	chr21:47656503-47659154	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
25	esv3503566	chr21:47656524-47659722	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
26	esv3374894	chr21:47656549-47659897	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
27	esv3525537	chr21:47656631-47658468	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
28	esv3525538	chr21:47656631-47658468	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47649800-47701600	Weak transcription	Right Atrium	heart
2	chr21:47650000-47658600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:47650000-47658600	Weak transcription	Small Intestine	intestine
4	chr21:47650000-47705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr21:47650200-47667000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:47650400-47658800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:47650600-47669800	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr21:47650800-47701000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:47650800-47701400	Strong transcription	Fetal Muscle Leg	muscle
10	chr21:47650800-47701600	Strong transcription	Fetal Stomach	stomach
11	chr21:47651000-47703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:47651200-47657200	Strong transcription	HMEC	breast
13	chr21:47651200-47657400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr21:47651200-47657400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:47651400-47657000	Strong transcription	NH-A	brain
17	chr21:47651600-47657800	Strong transcription	Fetal Intestine Large	intestine
18	chr21:47651600-47670400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:47651600-47673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:47651600-47679000	Strong transcription	HSMM	muscle
21	chr21:47651600-47703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:47651600-47703200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr21:47651800-47657000	Strong transcription	NHDF-Ad	bronchial
24	chr21:47651800-47657200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr21:47651800-47657600	Strong transcription	Ovary	ovary
26	chr21:47651800-47657600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr21:47651800-47657800	Strong transcription	Brain Hippocampus Middle	brain
28	chr21:47651800-47657800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr21:47651800-47657800	Strong transcription	Left Ventricle	heart
30	chr21:47651800-47666800	Strong transcription	Fetal Lung	lung
31	chr21:47651800-47681000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:47651800-47701400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:47651800-47702600	Strong transcription	Osteobl	bone
34	chr21:47652000-47657000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr21:47652000-47657800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr21:47652000-47668000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr21:47652000-47701000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr21:47652000-47703000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr21:47652200-47657000	Strong transcription	Dnd41	blood
40	chr21:47652200-47657000	Strong transcription	K562	blood
41	chr21:47652200-47657600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:47652200-47701600	Strong transcription	Fetal Thymus	thymus
43	chr21:47652400-47657000	Strong transcription	Placenta	Placenta
44	chr21:47652400-47685200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr21:47652400-47702000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr21:47652600-47657000	Strong transcription	Rectal Smooth Muscle	rectum
47	chr21:47652600-47657000	Strong transcription	HSMMtube	muscle
48	chr21:47652800-47657000	Strong transcription	Liver	Liver
49	chr21:47652800-47657000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr21:47652800-47668200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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