Variant report

Variant	nsv966002
Chromosome Location	chr21:15334848-15338391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:15336538-15336738	K562	blood:	n/a	n/a
2	POLR2A	chr21:15336987-15337148	K562	blood:	n/a	n/a
3	ZBTB33	chr21:15335188-15335421	HepG2	liver:	n/a	n/a
4	ZBTB33	chr21:15336824-15336935	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIPI-4	chr21:15335061-15335192	NONHSAT081133
2	lnc-LIPI-4	chr21:15335061-15335106	NONHSAT081132

Variant related genes	Relation type
ANKRD20A11P	TF binding region

Extended variants
information (count: 197 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34731397	chr21:15334881-15334882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73894325	chr21:15334897-15334898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3115474	chr21:15334901-15334902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577517740	chr21:15334936-15334937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192470753	chr21:15334956-15334957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540330311	chr21:15334968-15334969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544137325	chr21:15334991-15334992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559804544	chr21:15334993-15334994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4046457	chr21:15335015-15335016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2334787	chr21:15335028-15335029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184795869	chr21:15335055-15335056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2334788	chr21:15335056-15335057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2822340	chr21:15335070-15335071	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2334789	chr21:15335103-15335104	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs2334790	chr21:15335120-15335121	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs189385511	chr21:15335121-15335122	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs3965629	chr21:15335129-15335130	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs568969584	chr21:15335140-15335141	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs2878261	chr21:15335171-15335172	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs200855038	chr21:15335180-15335181	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs566131814	chr21:15335186-15335187	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs4046444	chr21:15335187-15335188	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs180747045	chr21:15335215-15335216	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201775135	chr21:15335216-15335217	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs548519587	chr21:15335288-15335289	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs3115475	chr21:15335320-15335321	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs2989283	chr21:15335376-15335377	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs189396252	chr21:15335377-15335378	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs4046446	chr21:15335380-15335381	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs375057104	chr21:15335416-15335417	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs556087209	chr21:15335451-15335452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3965610	chr21:15335454-15335455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3965611	chr21:15335471-15335472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4046447	chr21:15335476-15335477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569489101	chr21:15335477-15335478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4046448	chr21:15335479-15335480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34091461	chr21:15335497-15335498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181318094	chr21:15335526-15335527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558344528	chr21:15335528-15335529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139317818	chr21:15335574-15335575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34874801	chr21:15335586-15335587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373687812	chr21:15335622-15335623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111466460	chr21:15335636-15335637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35846300	chr21:15335637-15335638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372972592	chr21:15335648-15335649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574390473	chr21:15335651-15335652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551357916	chr21:15335652-15335653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544124819	chr21:15335678-15335679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564005194	chr21:15335680-15335681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577629637	chr21:15335705-15335706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15310400-15347400	Weak transcription	Dnd41	blood

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