Variant report

Variant	nsv587872
Chromosome Location	chr21:47379816-47388773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 361 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3827270	chr21:47379816-47379817	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554953459	chr21:47379818-47379819	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs147890873	chr21:47379825-47379826	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs544159460	chr21:47379835-47379836	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs3827271	chr21:47379838-47379839	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34633110	chr21:47379873-47379874	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200102943	chr21:47379888-47379889	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs11702616	chr21:47379894-47379895	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541969979	chr21:47379901-47379902	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs560394503	chr21:47379912-47379913	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528594732	chr21:47379916-47379917	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs73374709	chr21:47379924-47379925	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575256182	chr21:47379925-47379926	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374495205	chr21:47379933-47379934	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565264433	chr21:47379942-47379943	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs532567521	chr21:47379950-47379951	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs550720046	chr21:47379998-47379999	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs537627371	chr21:47380056-47380057	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557556775	chr21:47380066-47380067	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556148660	chr21:47380108-47380109	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192637146	chr21:47380136-47380137	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs548325666	chr21:47380149-47380150	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535165348	chr21:47380150-47380151	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs566768451	chr21:47380176-47380177	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533631052	chr21:47380177-47380178	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs11700719	chr21:47380192-47380193	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549272787	chr21:47380205-47380206	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs112385814	chr21:47380223-47380224	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370856425	chr21:47380226-47380227	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574630614	chr21:47380255-47380256	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs3827272	chr21:47380283-47380284	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185449916	chr21:47380354-47380355	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577538624	chr21:47380381-47380382	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187358619	chr21:47380434-47380435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375201421	chr21:47380574-47380575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141760338	chr21:47380609-47380610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373959672	chr21:47380638-47380639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532512790	chr21:47380663-47380664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192512413	chr21:47380680-47380681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562740483	chr21:47380752-47380753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530415553	chr21:47380817-47380818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548509780	chr21:47380823-47380824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147078681	chr21:47380908-47380909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35143658	chr21:47380940-47380941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147750374	chr21:47381006-47381007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9975037	chr21:47381007-47381008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570489103	chr21:47381068-47381069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577889408	chr21:47381114-47381115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537548970	chr21:47381119-47381120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539859772	chr21:47381162-47381163	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47377200-47380000	Enhancers	Adipose Nuclei	Adipose
2	chr21:47378800-47380200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:47378800-47380200	Enhancers	NHDF-Ad	bronchial
4	chr21:47378800-47380400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr21:47379000-47380200	Enhancers	Ovary	ovary
6	chr21:47379200-47380000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:47379200-47380000	Enhancers	Left Ventricle	heart
8	chr21:47379200-47380000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr21:47379400-47380000	Enhancers	Aorta	Aorta
10	chr21:47379400-47380200	Bivalent Enhancer	Placenta	Placenta
11	chr21:47379600-47380000	Enhancers	Right Ventricle	heart
12	chr21:47379600-47380200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:47379600-47380200	ZNF genes & repeats	Lung	lung
14	chr21:47379600-47380400	ZNF genes & repeats	Spleen	Spleen
15	chr21:47379600-47382800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:47379800-47382800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:47379800-47392000	Weak transcription	Right Atrium	heart
18	chr21:47380000-47380200	Enhancers	Fetal Muscle Trunk	muscle
19	chr21:47380000-47382200	Weak transcription	Adipose Nuclei	Adipose
20	chr21:47380200-47380600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:47380200-47383000	Weak transcription	NHDF-Ad	bronchial
22	chr21:47380400-47382600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr21:47380600-47380800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:47380800-47382200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:47382200-47383000	Enhancers	Adipose Nuclei	Adipose
26	chr21:47382200-47383800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:47382400-47383000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr21:47382400-47383800	Enhancers	Fetal Stomach	stomach
29	chr21:47382600-47382800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:47382600-47382800	Enhancers	Fetal Muscle Trunk	muscle
31	chr21:47382800-47383400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:47382800-47383600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:47382800-47383600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr21:47382800-47384000	Enhancers	Fetal Muscle Leg	muscle
35	chr21:47382800-47384800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr21:47383000-47383600	Enhancers	NHDF-Ad	bronchial
37	chr21:47383200-47383400	Enhancers	NHLF	lung
38	chr21:47383400-47383600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:47383600-47390400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:47384800-47385000	Enhancers	Fetal Muscle Trunk	muscle
41	chr21:47384800-47385200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:47385000-47385800	Enhancers	Liver	Liver
43	chr21:47385000-47386000	Enhancers	Fetal Muscle Leg	muscle
44	chr21:47385000-47390000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr21:47385400-47386000	Enhancers	HepG2	liver
46	chr21:47385400-47389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:47385800-47390400	Weak transcription	Liver	Liver
48	chr21:47386000-47390000	Weak transcription	Fetal Muscle Leg	muscle
49	chr21:47386000-47390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:47387000-47387200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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