Variant report

Variant	rs78293273
Chromosome Location	chr21:45447562-45447563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45446065..45448233-chr21:45527740..45530031,2	K562	blood:
2	chr21:45444934..45447565-chr21:45527496..45530031,3	K562	blood:
3	chr21:45446322..45447906-chr21:45454983..45457512,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers 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	39 gene(s)	inside rSNPs	diseases
5	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45433200-45452600	Weak transcription	Aorta	Aorta
2	chr21:45433800-45448000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:45434200-45448800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr21:45434200-45450800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr21:45434400-45451000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr21:45435000-45450200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr21:45438200-45451400	Weak transcription	Hela-S3	cervix
8	chr21:45440800-45451400	Weak transcription	Dnd41	blood
9	chr21:45441200-45447600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:45441800-45452400	Weak transcription	Fetal Brain Female	brain
11	chr21:45443800-45448600	Enhancers	Left Ventricle	heart
12	chr21:45444000-45448400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr21:45444200-45447800	Enhancers	Psoas Muscle	Psoas
14	chr21:45444400-45448000	Enhancers	Primary hematopoietic stem cells	blood
15	chr21:45444400-45452400	Weak transcription	Fetal Intestine Small	intestine
16	chr21:45445200-45447600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:45445200-45450000	Enhancers	Brain Hippocampus Middle	brain
18	chr21:45445200-45450200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr21:45445200-45450800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr21:45445200-45452400	Weak transcription	Esophagus	oesophagus
21	chr21:45445200-45454400	Weak transcription	A549	lung
22	chr21:45445200-45454600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr21:45445200-45457800	Weak transcription	Small Intestine	intestine
24	chr21:45445200-45471400	Weak transcription	Stomach Mucosa	stomach
25	chr21:45445400-45448200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr21:45445400-45454400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr21:45445400-45454600	Weak transcription	Colonic Mucosa	Colon
28	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr21:45445600-45452600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr21:45445800-45450200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr21:45445800-45451200	Weak transcription	Pancreas	Pancrea
32	chr21:45445800-45452800	Weak transcription	Fetal Lung	lung
33	chr21:45445800-45457800	Weak transcription	Gastric	stomach
34	chr21:45445800-45458200	Weak transcription	HSMMtube	muscle
35	chr21:45445800-45471400	Weak transcription	Right Atrium	heart
36	chr21:45446000-45448200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:45446000-45449200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr21:45446000-45449600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr21:45446000-45451400	Weak transcription	Fetal Intestine Large	intestine
40	chr21:45446000-45452400	Weak transcription	Fetal Muscle Leg	muscle
41	chr21:45446000-45452600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr21:45446000-45452600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr21:45446000-45452600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr21:45446000-45452600	Weak transcription	HSMM	muscle
45	chr21:45446000-45452600	Weak transcription	HUVEC	blood vessel
46	chr21:45446200-45449400	Weak transcription	Adipose Nuclei	Adipose
47	chr21:45446200-45450800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr21:45446200-45451400	Weak transcription	Liver	Liver
49	chr21:45446200-45452200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr21:45446200-45452400	Weak transcription	Duodenum Mucosa	Duodenum

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