Variant report

Variant	esv3339127
Chromosome Location	chr21:40954707-40957255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40956951..40959069-chr21:40965144..40966734,2	K562	blood:
2	chr21:40950947..40952814-chr21:40953410..40955309,2	MCF-7	breast:
3	chr21:40956746..40958740-chr21:40961030..40962712,2	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551680	chr21:40954708-40954709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186178128	chr21:40954785-40954786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548227150	chr21:40954803-40954804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540604030	chr21:40954821-40954822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568208810	chr21:40954880-40954881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569730038	chr21:40954929-40954930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11909176	chr21:40954950-40954951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557227197	chr21:40954961-40954962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190507384	chr21:40955039-40955040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537003188	chr21:40955045-40955046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539711208	chr21:40955072-40955073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550225589	chr21:40955084-40955085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11700626	chr21:40955085-40955086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs183046384	chr21:40955123-40955124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541842080	chr21:40955125-40955126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145238013	chr21:40955131-40955132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150946858	chr21:40955150-40955151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544325218	chr21:40955152-40955153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11909032	chr21:40955189-40955190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74902297	chr21:40955190-40955191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73904067	chr21:40955239-40955240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186304096	chr21:40955274-40955275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11909036	chr21:40955297-40955298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7364029	chr21:40955328-40955329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149658963	chr21:40955332-40955333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568118260	chr21:40955445-40955446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530885564	chr21:40955459-40955460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551070979	chr21:40955476-40955477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570892659	chr21:40955505-40955506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191163980	chr21:40955518-40955519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111280276	chr21:40955549-40955550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567161423	chr21:40955612-40955613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75091626	chr21:40955614-40955615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555353056	chr21:40955649-40955650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13050627	chr21:40955684-40955685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537904533	chr21:40955697-40955698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200570399	chr21:40955726-40955727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35672871	chr21:40955743-40955744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139760040	chr21:40955744-40955745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367723719	chr21:40955746-40955747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116998856	chr21:40955748-40955749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200893155	chr21:40955751-40955752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376375690	chr21:40955756-40955757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369470474	chr21:40955759-40955760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150641062	chr21:40955761-40955762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370449972	chr21:40955766-40955767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373643831	chr21:40955771-40955772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371516493	chr21:40955776-40955777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371685705	chr21:40955781-40955782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375820988	chr21:40955786-40955787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40948800-40955000	Weak transcription	Right Atrium	heart
2	chr21:40948800-40959800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:40949400-40959000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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