Variant report

Variant	esv2389945
Chromosome Location	chr21:47610940-47610941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47605676..47611866-chr21:47647121..47650700,5	K562	blood:
2	chr21:47610337..47611889-chr21:47614525..47616079,2	K562	blood:
3	chr21:47601884..47606848-chr21:47606938..47611467,11	MCF-7	breast:
4	chr21:47603298..47606134-chr21:47609702..47612291,3	MCF-7	breast:
5	chr21:47609774..47611316-chr21:47673784..47676392,2	MCF-7	breast:
6	chr21:47609974..47612324-chr21:47641874..47644761,2	MCF-7	breast:
7	chr21:47609281..47613722-chr21:47615252..47618849,4	MCF-7	breast:
8	chr21:47608474..47611132-chr21:47627898..47630715,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239415	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000160284	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000228404	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	rs142247529	chr21:47610940-47610941	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47605000-47611600	Weak transcription	Small Intestine	intestine
2	chr21:47605000-47613600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr21:47605000-47613600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr21:47605000-47633200	Weak transcription	Stomach Mucosa	stomach
5	chr21:47605200-47613200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:47605200-47646200	Weak transcription	Psoas Muscle	Psoas
7	chr21:47605400-47611000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr21:47605400-47613400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr21:47605400-47613600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr21:47605400-47625600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr21:47605400-47646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr21:47605400-47646200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr21:47605600-47611200	Weak transcription	Fetal Lung	lung
14	chr21:47605600-47611600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr21:47605600-47612000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr21:47605600-47612600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr21:47605600-47613400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr21:47605600-47613600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr21:47605800-47612400	Weak transcription	Primary B cells from cord blood	blood
20	chr21:47605800-47613600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr21:47605800-47613600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr21:47605800-47621000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr21:47606000-47611000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr21:47606000-47613600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr21:47606200-47611200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:47606200-47612400	Weak transcription	Fetal Brain Male	brain
27	chr21:47606600-47639800	Strong transcription	Fetal Brain Female	brain
28	chr21:47607200-47611000	Enhancers	Right Atrium	heart
29	chr21:47607200-47611600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:47607400-47645200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr21:47607400-47646200	Strong transcription	Fetal Stomach	stomach
32	chr21:47607600-47611800	Genic enhancers	NHDF-Ad	bronchial
33	chr21:47607600-47612000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr21:47607600-47617000	Strong transcription	Brain Germinal Matrix	brain
35	chr21:47607800-47611800	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr21:47607800-47612200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:47607800-47621000	Strong transcription	Liver	Liver
38	chr21:47608000-47612400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:47608200-47611600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:47608400-47611600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr21:47608400-47611800	Genic enhancers	NHLF	lung
42	chr21:47608400-47612000	Genic enhancers	HMEC	breast
43	chr21:47608400-47612200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr21:47608400-47621000	Strong transcription	Dnd41	blood
45	chr21:47608400-47622800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr21:47608600-47613800	Strong transcription	Gastric	stomach
47	chr21:47608800-47611400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr21:47608800-47611600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:47608800-47612400	Weak transcription	Fetal Kidney	kidney
50	chr21:47608800-47612800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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