Variant report

Variant	nsv3516
Chromosome Location	chr21:39928540-39936213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:39928305..39930106-chr21:39932003..39933679,2	K562	blood:
2	chr21:39932487..39936262-chr21:39938528..39942043,3	MCF-7	breast:
3	chr21:39928305..39930106-chr21:39932003..39933679,2	K562	blood:
4	chr21:39927283..39929950-chr21:39938124..39940095,2	MCF-7	breast:

Extended variants
information (count: 277 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372360339	chr21:39928552-39928553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549348826	chr21:39928569-39928570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148110499	chr21:39928649-39928650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75789449	chr21:39928650-39928651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576153529	chr21:39928655-39928656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531855623	chr21:39928667-39928668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9980236	chr21:39928688-39928689	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187578566	chr21:39928692-39928693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566271317	chr21:39928717-39928718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535221296	chr21:39928724-39928725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77956131	chr21:39928735-39928736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140853648	chr21:39928748-39928749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537707221	chr21:39928817-39928818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75987060	chr21:39928836-39928837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566320523	chr21:39928896-39928897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141228448	chr21:39928904-39928905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558354055	chr21:39928996-39928997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553184995	chr21:39929052-39929053	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572254876	chr21:39929055-39929056	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138787898	chr21:39929071-39929072	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560880247	chr21:39929072-39929073	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142911212	chr21:39929087-39929088	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545224845	chr21:39929097-39929098	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192768213	chr21:39929200-39929201	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531971767	chr21:39929205-39929206	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184634681	chr21:39929348-39929349	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74690081	chr21:39929460-39929461	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187585964	chr21:39929493-39929494	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117236694	chr21:39929540-39929541	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192519577	chr21:39929634-39929635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568644106	chr21:39929752-39929753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184208663	chr21:39929767-39929768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557332059	chr21:39929777-39929778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573551876	chr21:39929811-39929812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570868535	chr21:39929823-39929824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371595640	chr21:39929839-39929840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190407254	chr21:39929856-39929857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375293007	chr21:39929897-39929898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2836512	chr21:39929900-39929901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs116787686	chr21:39929937-39929938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552704801	chr21:39929954-39929955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541883978	chr21:39929961-39929962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147003250	chr21:39929962-39929963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574244933	chr21:39929971-39929972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76710187	chr21:39929980-39929981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs36111453	chr21:39929984-39929985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374025363	chr21:39929985-39929986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563867766	chr21:39929986-39929987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397866880	chr21:39929990-39929991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201111094	chr21:39929991-39929992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Acute myeloid leukemia	17237825	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Prostate cancer	20562851	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39911200-39935200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:39928400-39929000	Enhancers	Aorta	Aorta
3	chr21:39929000-39929600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:39929000-39946800	Weak transcription	Aorta	Aorta
5	chr21:39930000-39930600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:39932000-39932400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr21:39932000-39932400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:39932200-39932400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:39932200-39932400	Enhancers	Fetal Muscle Trunk	muscle
10	chr21:39932200-39932400	ZNF genes & repeats	Lung	lung
11	chr21:39932200-39932800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr21:39932200-39940600	Weak transcription	Gastric	stomach
13	chr21:39932400-39932600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr21:39932400-39938800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:39932800-39933800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr21:39932800-39935200	Enhancers	HepG2	liver
17	chr21:39933800-39934600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr21:39934200-39934800	Enhancers	Fetal Muscle Leg	muscle
19	chr21:39934400-39934600	Enhancers	Fetal Muscle Trunk	muscle
20	chr21:39934600-39939000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr21:39935200-39937800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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