Variant report

Variant	rs112120333
Chromosome Location	chr21:47657789-47657790
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	chr21:47657327..47659705-chr21:47698553..47700313,2	K562	blood:
3	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
4	chr21:47656850..47659762-chr21:47704126..47706741,2	MCF-7	breast:
5	chr21:47657506..47660232-chr21:47695558..47697140,2	K562	blood:
6	chr21:47656119..47658355-chr21:47680181..47682317,2	K562	blood:

Variant related genes	Relation type
ENSG00000160285	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000182362	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:50 , 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
29	esv2393806	chr21:47657157-47658851	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
30	esv8319	chr21:47657163-47658915	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
31	esv3455293	chr21:47657226-47658782	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
32	esv3503565	chr21:47657237-47658862	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
33	esv3503569	chr21:47657245-47658758	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
34	esv3516812	chr21:47657251-47658861	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
35	esv3455292	chr21:47657274-47658744	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
36	esv3455294	chr21:47657276-47658786	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
37	esv3503567	chr21:47657287-47658722	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
38	esv3455295	chr21:47657288-47658703	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
39	esv3416339	chr21:47657314-47658694	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
40	esv3455296	chr21:47657338-47658678	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
41	esv3503568	chr21:47657350-47658673	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
42	esv3455298	chr21:47657352-47658675	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
43	esv3503570	chr21:47657352-47658675	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
44	esv3516813	chr21:47657352-47658675	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
45	esv18584	chr21:47657518-47658672	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
46	nsv587968	chr21:47657545-47658619	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
47	nsv587969	chr21:47657596-47658352	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
48	nsv587970	chr21:47657596-47658619	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
49	nsv587971	chr21:47657647-47658404	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
50	nsv587972	chr21:47657747-47658619	Strong transcription Weak 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	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:47651600-47657800	Strong transcription	Fetal Intestine Large	intestine
14	chr21:47651600-47670400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:47651600-47673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:47651600-47679000	Strong transcription	HSMM	muscle
17	chr21:47651600-47703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:47651600-47703200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr21:47651800-47657800	Strong transcription	Brain Hippocampus Middle	brain
20	chr21:47651800-47657800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr21:47651800-47657800	Strong transcription	Left Ventricle	heart
22	chr21:47651800-47666800	Strong transcription	Fetal Lung	lung
23	chr21:47651800-47681000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:47651800-47701400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:47651800-47702600	Strong transcription	Osteobl	bone
26	chr21:47652000-47657800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr21:47652000-47668000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr21:47652000-47701000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr21:47652000-47703000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr21:47652200-47701600	Strong transcription	Fetal Thymus	thymus
31	chr21:47652400-47685200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:47652400-47702000	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr21:47652800-47668200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:47652800-47674600	Strong transcription	Adipose Nuclei	Adipose
35	chr21:47652800-47678000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:47652800-47702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr21:47653000-47701600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr21:47653200-47657800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr21:47653200-47668000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr21:47653200-47696000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr21:47653200-47702000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:47653400-47686000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:47653600-47657800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr21:47653600-47670400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr21:47653600-47701800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr21:47653600-47702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr21:47654200-47670200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr21:47654400-47657800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr21:47654400-47657800	Strong transcription	Right Ventricle	heart
50	chr21:47654800-47658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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