Variant report

Variant	esv3446726
Chromosome Location	chr21:47385978-47386421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47384997..47386531-chr21:47397126..47399086,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184633852	chr21:47386048-47386049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558782709	chr21:47386065-47386066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189149511	chr21:47386071-47386072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12482777	chr21:47386127-47386128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs6518263	chr21:47386136-47386137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192915100	chr21:47386144-47386145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375230666	chr21:47386203-47386204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562659048	chr21:47386220-47386221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574716404	chr21:47386240-47386241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542070728	chr21:47386257-47386258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561332584	chr21:47386261-47386262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528606859	chr21:47386329-47386330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553441670	chr21:47386336-47386337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369548200	chr21:47386357-47386358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375851565	chr21:47386368-47386369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141862227	chr21:47386369-47386370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8131550	chr21:47386377-47386378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565182244	chr21:47386407-47386408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71885444	chr21:47386413-47386414	Weak transcription	n/a	n/a	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47379800-47392000	Weak transcription	Right Atrium	heart
2	chr21:47383600-47390400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:47385000-47386000	Enhancers	Fetal Muscle Leg	muscle
4	chr21:47385000-47390000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr21:47385400-47386000	Enhancers	HepG2	liver
6	chr21:47385400-47389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:47385800-47390400	Weak transcription	Liver	Liver
8	chr21:47386000-47390000	Weak transcription	Fetal Muscle Leg	muscle
9	chr21:47386000-47390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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