Variant report

Variant	nsv587873
Chromosome Location	chr21:47383056-47388773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47388213..47390098-chr21:47396842..47399384,2	MCF-7	breast:
2	chr21:47386674..47388281-chr21:47388690..47390672,2	MCF-7	breast:
3	chr21:47387372..47388982-chr21:47392168..47393871,2	MCF-7	breast:
4	chr21:47375803..47379549-chr21:47381128..47384039,3	MCF-7	breast:
5	chr21:47386674..47388281-chr21:47388690..47390672,2	MCF-7	breast:
6	chr21:47384997..47386531-chr21:47397126..47399086,2	MCF-7	breast:

Extended variants
information (count: 232 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4819176	chr21:47383056-47383057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553878063	chr21:47383068-47383069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572228735	chr21:47383149-47383150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539417194	chr21:47383152-47383153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558141377	chr21:47383181-47383182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576613189	chr21:47383200-47383201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559852187	chr21:47383212-47383213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149547484	chr21:47383225-47383226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573311558	chr21:47383229-47383230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574317261	chr21:47383265-47383266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541104361	chr21:47383314-47383315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559460405	chr21:47383343-47383344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549309855	chr21:47383348-47383349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551045119	chr21:47383358-47383359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181947108	chr21:47383517-47383518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530706854	chr21:47383538-47383539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548903156	chr21:47383556-47383557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545202561	chr21:47383566-47383567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534483729	chr21:47383586-47383587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565464134	chr21:47383607-47383608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546404715	chr21:47383616-47383617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144138471	chr21:47383622-47383623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148717752	chr21:47383624-47383625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11700929	chr21:47383690-47383691	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186321002	chr21:47383707-47383708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144578733	chr21:47383708-47383709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11702691	chr21:47383731-47383732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147907480	chr21:47383745-47383746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73374712	chr21:47383751-47383752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553610180	chr21:47383754-47383755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71864050	chr21:47383759-47383760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71185173	chr21:47383762-47383763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73374714	chr21:47383788-47383789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189933060	chr21:47383824-47383825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545131548	chr21:47383828-47383829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71324472	chr21:47383831-47383832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530556885	chr21:47383832-47383833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9984383	chr21:47383853-47383854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182960434	chr21:47383862-47383863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528379671	chr21:47383890-47383891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546341347	chr21:47383891-47383892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571466105	chr21:47383929-47383930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185918685	chr21:47383954-47383955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370105390	chr21:47383989-47383990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534699546	chr21:47384000-47384001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191614269	chr21:47384023-47384024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537412878	chr21:47384024-47384025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555810262	chr21:47384025-47384026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182790450	chr21:47384082-47384083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187416084	chr21:47384088-47384089	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47379800-47392000	Weak transcription	Right Atrium	heart
2	chr21:47382200-47383800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:47382400-47383800	Enhancers	Fetal Stomach	stomach
4	chr21:47382800-47383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:47382800-47383600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:47382800-47383600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:47382800-47384000	Enhancers	Fetal Muscle Leg	muscle
8	chr21:47382800-47384800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr21:47383000-47383600	Enhancers	NHDF-Ad	bronchial
10	chr21:47383200-47383400	Enhancers	NHLF	lung
11	chr21:47383400-47383600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:47383600-47390400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:47384800-47385000	Enhancers	Fetal Muscle Trunk	muscle
14	chr21:47384800-47385200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:47385000-47385800	Enhancers	Liver	Liver
16	chr21:47385000-47386000	Enhancers	Fetal Muscle Leg	muscle
17	chr21:47385000-47390000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr21:47385400-47386000	Enhancers	HepG2	liver
19	chr21:47385400-47389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:47385800-47390400	Weak transcription	Liver	Liver
21	chr21:47386000-47390000	Weak transcription	Fetal Muscle Leg	muscle
22	chr21:47386000-47390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:47387000-47387200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:47387200-47390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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