Variant report

Variant	nsv3457
Chromosome Location	chr21:15996855-16042349
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	ARID3A	chr21:16029546-16030369	K562	blood:	n/a	n/a
2	ARID3A	chr21:16024140-16024142	K562	blood:	n/a	n/a
3	ARID3A	chr21:16031879-16031921	K562	blood:	n/a	n/a
4	ARID3A	chr21:16002583-16003429	K562	blood:	n/a	n/a
5	ATF1	chr21:16007377-16007385	K562	blood:	n/a	n/a
6	ATF1	chr21:16002875-16003298	K562	blood:	n/a	n/a
7	ATF3	chr21:16002738-16003224	K562	blood:	n/a	n/a
8	BATF	chr21:16002848-16003176	GM12878	blood:	n/a	chr21:16003023-16003033 chr21:16003018-16003029 chr21:16003019-16003029
9	BATF	chr21:16002843-16003179	GM12878	blood:	n/a	chr21:16003023-16003033 chr21:16003018-16003029 chr21:16003019-16003029
10	BHLHE40	chr21:16002871-16003120	GM12878	blood:	n/a	n/a
11	BHLHE40	chr21:16033905-16033922	GM12878	blood:	n/a	n/a
12	CBX3	chr21:16017989-16018339	K562	blood:	n/a	n/a
13	CBX3	chr21:16036972-16037390	K562	blood:	n/a	n/a
14	CBX3	chr21:16002810-16003245	K562	blood:	n/a	n/a
15	CBX3	chr21:16018036-16018407	K562	blood:	n/a	n/a
16	CCNT2	chr21:16031321-16031521	K562	blood:	n/a	n/a
17	CCNT2	chr21:16029814-16030344	K562	blood:	n/a	n/a
18	CCNT2	chr21:16002809-16003196	K562	blood:	n/a	n/a
19	CEBPB	chr21:16002823-16003314	K562	blood:	n/a	chr21:16003029-16003038 chr21:16003029-16003040
20	CEBPB	chr21:16004597-16005073	HepG2	liver:	n/a	chr21:16004742-16004751 chr21:16004740-16004751 chr21:16004901-16004910 chr21:16004740-16004753 chr21:16004899-16004910
21	CEBPB	chr21:16004635-16004942	IMR90	lung:	n/a	chr21:16004742-16004751 chr21:16004740-16004751 chr21:16004901-16004910 chr21:16004740-16004753 chr21:16004899-16004910
22	CEBPB	chr21:16002858-16003129	K562	blood:	n/a	chr21:16003029-16003038 chr21:16003029-16003040
23	CEBPB	chr21:16004559-16005083	K562	blood:	n/a	chr21:16004742-16004751 chr21:16004740-16004751 chr21:16004901-16004910 chr21:16004740-16004753 chr21:16004899-16004910
24	CEBPB	chr21:16002734-16003291	K562	blood:	n/a	chr21:16003029-16003038 chr21:16003029-16003040
25	CEBPB	chr21:16002925-16003172	HepG2	liver:	n/a	chr21:16003029-16003038 chr21:16003029-16003040
26	CEBPB	chr21:16004661-16005040	A549	lung:	n/a	chr21:16004742-16004751 chr21:16004740-16004751 chr21:16004901-16004910 chr21:16004740-16004753 chr21:16004899-16004910
27	CEBPB	chr21:16002921-16003155	IMR90	lung:	n/a	chr21:16003029-16003038 chr21:16003029-16003040
28	CEBPB	chr21:16004682-16005007	H1-hESC	embryonic stem cell:	n/a	chr21:16004742-16004751 chr21:16004740-16004751 chr21:16004901-16004910 chr21:16004740-16004753 chr21:16004899-16004910
29	CEBPD	chr21:16002753-16003250	K562	blood:	n/a	chr21:16003028-16003039
30	CEBPD	chr21:16002723-16003269	K562	blood:	n/a	chr21:16003028-16003039
31	CTCF	chr21:16007255-16007340	LNCaP	prostate:	n/a	n/a
32	CTCF	chr21:16031721-16031955	GM12878	blood:	n/a	n/a
33	CTCF	chr21:16031840-16031891	GM10266	blood:	n/a	n/a
34	CTCF	chr21:16031820-16031970	GM06990	blood:	n/a	n/a
35	CUX1	chr21:16004142-16004276	K562	blood:	n/a	n/a
36	CUX1	chr21:16002519-16003375	K562	blood:	n/a	n/a
37	E2F4	chr21:16003534-16003724	MCF10A-Er-Src	breast:	n/a	n/a
38	EBF1	chr21:16010129-16010329	GM12878	blood:	n/a	n/a
39	EP300	chr21:16032045-16032103	GM12878	blood:	n/a	n/a
40	EP300	chr21:16002881-16003301	GM12878	blood:	n/a	chr21:16003022-16003031 chr21:16003021-16003030
41	EP300	chr21:16029869-16030719	K562	blood:	n/a	n/a
42	EP300	chr21:16002893-16003197	GM12878	blood:	n/a	chr21:16003022-16003031 chr21:16003021-16003030
43	EP300	chr21:16002652-16003347	K562	blood:	n/a	chr21:16003022-16003031 chr21:16002664-16002678 chr21:16003021-16003030 chr21:16002793-16002807
44	ESR1	chr21:16017241-16017589	ECC-1	luminal epithelium:	n/a	n/a
45	ESR1	chr21:16017349-16017625	ECC-1	luminal epithelium:	n/a	n/a
46	ESR1	chr21:16017261-16017662	ECC-1	luminal epithelium:	n/a	n/a
47	FAM48A	chr21:16014674-16014803	GM12878	blood:	n/a	n/a
48	FOS	chr21:16002913-16003088	MCF10A-Er-Src	breast:	n/a	chr21:16003021-16003030 chr21:16003022-16003030 chr21:16003022-16003031 chr21:16003023-16003030 chr21:16003020-16003031
49	FOS	chr21:16002814-16003208	HUVEC	blood vessel:	n/a	chr21:16003021-16003030 chr21:16003022-16003030 chr21:16003022-16003031 chr21:16003023-16003030 chr21:16003020-16003031 chr21:16003136-16003145
50	FOS	chr21:16002830-16003214	K562	blood:	n/a	chr21:16003021-16003030 chr21:16003022-16003030 chr21:16003022-16003031 chr21:16003023-16003030 chr21:16003020-16003031 chr21:16003136-16003145

No.	Distal block	Cell Line	Cell type
1	chr21:15904847..15907317-chr21:16028940..16030930,2	K562	blood:
2	chr21:15916304..15917888-chr21:16008677..16010503,2	K562	blood:
3	chr21:15978384..15981097-chr21:16000750..16003458,2	K562	blood:
4	chr21:16028560..16030325-chr21:16134168..16136260,2	K562	blood:
5	chr21:15917203..15918714-chr21:16016911..16018862,2	K562	blood:
6	chr21:16005263..16007933-chr21:16027438..16030279,2	K562	blood:
7	chr21:16005263..16007933-chr21:16027438..16030279,2	K562	blood:
8	chr21:16027302..16029189-chr21:16043696..16046360,3	K562	blood:
9	chr21:15917006..15918723-chr21:15999571..16001300,2	K562	blood:
10	chr21:16014067..16015679-chr21:16016437..16019314,2	K562	blood:

Variant related genes	Relation type
ENSG00000243440	TF binding region
ENSG00000226751	chromatin interactions
ENSG00000243440	chromatin interactions
ENSG00000155307	chromatin interactions

Extended variants
information (count: 1327 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1327 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564531909	chr21:15996956-15996957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145740331	chr21:15996957-15996958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187371747	chr21:15997020-15997021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560666252	chr21:15997027-15997028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112236272	chr21:15997056-15997057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565111606	chr21:15997074-15997075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192200832	chr21:15997078-15997079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549658161	chr21:15997106-15997107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184782551	chr21:15997128-15997129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569466479	chr21:15997183-15997184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189560383	chr21:15997191-15997192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148508983	chr21:15997205-15997206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142786647	chr21:15997225-15997226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533634220	chr21:15997245-15997246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553452354	chr21:15997274-15997275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28885516	chr21:15997282-15997283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536054762	chr21:15997287-15997288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556392578	chr21:15997298-15997299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146896244	chr21:15997338-15997339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545320123	chr21:15997358-15997359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564312705	chr21:15997364-15997365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs459837	chr21:15997389-15997390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540685920	chr21:15997447-15997448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560578228	chr21:15997456-15997457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529476649	chr21:15997477-15997478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147933840	chr21:15997492-15997493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563128585	chr21:15997502-15997503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531897436	chr21:15997508-15997509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145834030	chr21:15997515-15997516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552094553	chr21:15997519-15997520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567000132	chr21:15997532-15997533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192657156	chr21:15997534-15997535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs445139	chr21:15997545-15997546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138447558	chr21:15997557-15997558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112471130	chr21:15997563-15997564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567040937	chr21:15997580-15997581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149256324	chr21:15997581-15997582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62227243	chr21:15997600-15997601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538552632	chr21:15997614-15997615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569558748	chr21:15997641-15997642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376917691	chr21:15997747-15997748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540647033	chr21:15997773-15997774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554281005	chr21:15997783-15997784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574162586	chr21:15997788-15997789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543144912	chr21:15997826-15997827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562933705	chr21:15997839-15997840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184501882	chr21:15997840-15997841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189825388	chr21:15997856-15997857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138153633	chr21:15997865-15997866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527262939	chr21:15997875-15997876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
XY gonadal dysgenesis	20685758	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15994400-16001600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr21:15994400-16001800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:15994600-16001600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:15994800-16001400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:16000000-16000200	Enhancers	K562	blood
6	chr21:16000400-16001800	Weak transcription	K562	blood
7	chr21:16001400-16002600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr21:16001400-16002800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr21:16001600-16002400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr21:16001600-16002600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr21:16001600-16002600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr21:16001600-16002600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:16001600-16003600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr21:16001800-16002200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:16001800-16002400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr21:16001800-16002600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr21:16001800-16002600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr21:16001800-16002600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr21:16001800-16002600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:16001800-16002600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:16001800-16002600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr21:16001800-16002600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr21:16001800-16002800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr21:16001800-16003400	Enhancers	K562	blood
25	chr21:16001800-16003600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr21:16001800-16003600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr21:16001800-16003600	Enhancers	Dnd41	blood
28	chr21:16002000-16003800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr21:16002000-16003800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr21:16002400-16003200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr21:16002400-16003200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr21:16002400-16003200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr21:16002400-16003200	Enhancers	GM12878-XiMat	blood
34	chr21:16002600-16003200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr21:16003200-16003400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr21:16003400-16010000	Weak transcription	K562	blood
37	chr21:16003600-16005000	Weak transcription	Dnd41	blood
38	chr21:16004200-16004600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr21:16005000-16007000	Enhancers	Dnd41	blood
40	chr21:16009800-16010200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr21:16009800-16011000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr21:16010000-16010200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr21:16010000-16010400	Enhancers	K562	blood
44	chr21:16010200-16010600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr21:16010200-16011600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr21:16010600-16010800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr21:16011600-16012000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr21:16016200-16016400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:16016400-16017400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr21:16017400-16017600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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