Variant report

Variant	nsv817930
Chromosome Location	chr21:39913147-39916756
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	chr21:39891980..39894593-chr21:39911478..39913659,2	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2836493	chr21:39913147-39913148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186553535	chr21:39913167-39913168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62219616	chr21:39913206-39913207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191106275	chr21:39913220-39913221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182941419	chr21:39913236-39913237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149576994	chr21:39913294-39913295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188396035	chr21:39913309-39913310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16996424	chr21:39913341-39913342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs16996425	chr21:39913386-39913387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs191267520	chr21:39913549-39913550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558140959	chr21:39913615-39913616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183193918	chr21:39913624-39913625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2836494	chr21:39913625-39913626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545036173	chr21:39913633-39913634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376452573	chr21:39913640-39913641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553889569	chr21:39913641-39913642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536646853	chr21:39913651-39913652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2836495	chr21:39913669-39913670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187857405	chr21:39913670-39913671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191393329	chr21:39913681-39913682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184646825	chr21:39913707-39913708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544515631	chr21:39913717-39913718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564177550	chr21:39913746-39913747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532966133	chr21:39913759-39913760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546607320	chr21:39913765-39913766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560319293	chr21:39913823-39913824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2898354	chr21:39913834-39913835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201225716	chr21:39913836-39913837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71952757	chr21:39913837-39913838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397702223	chr21:39913851-39913852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571092594	chr21:39913894-39913895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371114200	chr21:39913898-39913899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111774952	chr21:39913903-39913904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67334868	chr21:39913904-39913905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397739741	chr21:39913905-39913906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112690201	chr21:39913906-39913907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548773349	chr21:39913933-39913934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569459283	chr21:39913940-39913941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538008017	chr21:39913969-39913970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552061208	chr21:39913992-39913993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79212643	chr21:39913995-39913996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139901530	chr21:39913996-39913997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143507513	chr21:39914056-39914057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115498139	chr21:39914091-39914092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114326422	chr21:39914092-39914093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556354193	chr21:39914094-39914095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575397485	chr21:39914133-39914134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192587751	chr21:39914134-39914135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185090311	chr21:39914148-39914149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577995043	chr21:39914158-39914159	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:6 , 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	chr21:39913000-39917600	Weak transcription	Aorta	Aorta
3	chr21:39914600-39915400	Enhancers	Fetal Stomach	stomach
4	chr21:39915400-39915800	Weak transcription	Fetal Stomach	stomach
5	chr21:39915800-39918200	Enhancers	Fetal Stomach	stomach
6	chr21:39916600-39917600	Enhancers	HepG2	liver

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