Variant report

Variant	esv2199974
Chromosome Location	chr21:47621716-47621717
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47604104..47606583-chr21:47618038..47621981,3	K562	blood:
2	chr21:47607532..47609411-chr21:47620514..47622375,2	K562	blood:
3	chr21:47620347..47622870-chr21:47628360..47630979,2	K562	blood:
4	chr21:47621595..47623797-chr21:47628982..47632480,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228404	chromatin interactions
ENSG00000160284	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 36 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201811591	chr21:47621716-47621717	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47605000-47633200	Weak transcription	Stomach Mucosa	stomach
2	chr21:47605200-47646200	Weak transcription	Psoas Muscle	Psoas
3	chr21:47605400-47625600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr21:47605400-47646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr21:47605400-47646200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:47606600-47639800	Strong transcription	Fetal Brain Female	brain
7	chr21:47607400-47645200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr21:47607400-47646200	Strong transcription	Fetal Stomach	stomach
9	chr21:47608400-47622800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr21:47609000-47634800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr21:47609600-47623000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr21:47610000-47637600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr21:47610000-47644000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:47611000-47633600	Weak transcription	Right Atrium	heart
15	chr21:47611200-47622000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr21:47611600-47621800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr21:47611600-47623000	Strong transcription	Adipose Nuclei	Adipose
18	chr21:47611600-47642400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:47611600-47643400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:47611800-47633400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:47611800-47634800	Strong transcription	NHDF-Ad	bronchial
22	chr21:47612000-47624200	Weak transcription	Small Intestine	intestine
23	chr21:47612000-47635600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr21:47612200-47644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:47612200-47645600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:47612400-47644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:47614200-47622800	Weak transcription	NH-A	brain
28	chr21:47614200-47646000	Weak transcription	Fetal Brain Male	brain
29	chr21:47614200-47646200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr21:47616000-47625000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr21:47616000-47625000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:47616200-47624800	Weak transcription	Hela-S3	cervix
33	chr21:47616200-47633200	Weak transcription	Fetal Heart	heart
34	chr21:47616400-47623600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr21:47616800-47622600	Weak transcription	Thymus	Thymus
36	chr21:47616800-47622800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr21:47617000-47622600	Weak transcription	Spleen	Spleen
38	chr21:47617000-47625000	Weak transcription	Right Ventricle	heart
39	chr21:47617000-47640400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr21:47617200-47622600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr21:47617400-47622600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr21:47618200-47622600	Weak transcription	Colonic Mucosa	Colon
43	chr21:47618200-47622600	Weak transcription	Fetal Intestine Small	intestine
44	chr21:47618200-47622600	Weak transcription	Gastric	stomach
45	chr21:47618200-47625200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr21:47618400-47624000	Strong transcription	NHLF	lung
47	chr21:47618400-47626200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr21:47618400-47643400	Strong transcription	NHEK	skin
49	chr21:47618800-47622800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr21:47618800-47623600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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