Variant report

Variant	nsv833290
Chromosome Location	chr16:76905691-77087137
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	chr16:76934165-76934485	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:76913373-76913653	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:76980885-76981085	K562	blood:	n/a	n/a
4	ATF2	chr16:77010103-77010377	GM12878	blood:	n/a	n/a
5	ATF3	chr16:76980774-76981124	K562	blood:	n/a	n/a
6	ATF3	chr16:77003970-77004466	A549	lung:	n/a	n/a
7	ATF3	chr16:76980737-76981284	A549	lung:	n/a	n/a
8	ATF3	chr16:76980721-76981225	A549	lung:	n/a	n/a
9	BACH1	chr16:77057336-77057341	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr16:76980807-76981126	K562	blood:	n/a	n/a
11	BACH1	chr16:76980722-76981230	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr16:76966506-76966724	GM12878	blood:	n/a	chr16:76966611-76966622 chr16:76966612-76966622
13	BATF	chr16:76980831-76981097	GM12878	blood:	n/a	chr16:76980965-76980976
14	BATF	chr16:76980823-76981049	GM12878	blood:	n/a	chr16:76980965-76980976
15	BATF	chr16:76966490-76966773	GM12878	blood:	n/a	chr16:76966611-76966622 chr16:76966612-76966622
16	BCL11A	chr16:77010106-77010349	GM12878	blood:	n/a	n/a
17	BCL3	chr16:76980667-76981333	A549	lung:	n/a	n/a
18	BHLHE40	chr16:76980800-76981182	K562	blood:	n/a	n/a
19	BHLHE40	chr16:76968723-76968754	HepG2	liver:	n/a	n/a
20	BHLHE40	chr16:76981970-76981973	HepG2	liver:	n/a	n/a
21	BHLHE40	chr16:76937293-76937310	HepG2	liver:	n/a	n/a
22	CCNT2	chr16:76980827-76981168	K562	blood:	n/a	n/a
23	CEBPB	chr16:76921675-76921929	IMR90	lung:	n/a	chr16:76921782-76921793
24	CEBPB	chr16:76905730-76906044	HepG2	liver:	n/a	chr16:76905880-76905891
25	CEBPB	chr16:76921683-76921951	HepG2	liver:	n/a	chr16:76921782-76921793
26	CEBPB	chr16:77004609-77004972	A549	lung:	n/a	n/a
27	CEBPB	chr16:76946769-76947111	A549	lung:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
28	CEBPB	chr16:76944760-76945585	A549	lung:	n/a	n/a
29	CEBPB	chr16:76929632-76929752	HepG2	liver:	n/a	chr16:76929659-76929670
30	CEBPB	chr16:76946832-76947044	HepG2	liver:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
31	CEBPB	chr16:76980741-76981163	A549	lung:	n/a	chr16:76980793-76980804
32	CEBPB	chr16:77033770-77034019	HepG2	liver:	n/a	chr16:77033885-77033896
33	CEBPB	chr16:76944867-76945106	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr16:76990823-76991056	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr16:76952420-76952678	A549	lung:	n/a	n/a
36	CEBPB	chr16:76962748-76962868	HepG2	liver:	n/a	chr16:76962812-76962823
37	CEBPB	chr16:76905764-76905938	IMR90	lung:	n/a	chr16:76905880-76905891
38	CEBPB	chr16:76989467-76989972	A549	lung:	n/a	n/a
39	CEBPB	chr16:76944829-76945202	IMR90	lung:	n/a	n/a
40	CEBPB	chr16:76946798-76946998	Hela-S3	cervix:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
41	CEBPB	chr16:76980601-76981286	A549	lung:	n/a	chr16:76980793-76980804
42	CEBPB	chr16:76944923-76945036	K562	blood:	n/a	n/a
43	CEBPB	chr16:76980854-76981067	K562	blood:	n/a	n/a
44	CEBPB	chr16:76946786-76947018	K562	blood:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
45	CEBPB	chr16:77019767-77020177	HepG2	liver:	n/a	chr16:77020099-77020110 chr16:77019892-77019904 chr16:77019853-77019864 chr16:77019853-77019864
46	CEBPB	chr16:76980764-76981128	A549	lung:	n/a	chr16:76980793-76980804
47	CEBPB	chr16:77039634-77039893	HepG2	liver:	n/a	n/a
48	CEBPB	chr16:76946642-76947268	A549	lung:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
49	CEBPB	chr16:77004002-77004484	A549	lung:	n/a	n/a
50	CEBPB	chr16:76980783-76981134	Hela-S3	cervix:	n/a	chr16:76980793-76980804

No.	Distal block	Cell Line	Cell type
1	chr16:77076688..77077729-chr16:77203577..77204202,3	MCF-7	breast:
2	chr16:76856883..76857419-chr16:77076804..77077643,2	MCF-7	breast:
3	chr16:77044641..77046687-chr16:77049304..77051697,2	K562	blood:
4	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
5	chr16:76886880..76887748-chr16:77077328..77078325,2	MCF-7	breast:
6	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
7	chr16:77044641..77046687-chr16:77049304..77051697,2	K562	blood:
8	chr16:76887896..76888842-chr16:77076469..77077719,11	MCF-7	breast:
9	chr16:77078662..77079429-chr16:77203303..77204211,3	MCF-7	breast:
10	chr16:77059610..77062396-chr16:77260233..77262257,2	K562	blood:
11	chr16:76699528..76700343-chr16:77076632..77077627,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS18-2	chr16:77042061-77042204	XLOC_012014
2	lnc-ADAMTS18-2	chr16:77028205-77028433	XLOC_012014
3	lnc-RP11-58C22.1.1-4	chr16:76946252-76946305	ENSG00000259995.1
4	lnc-ADAMTS18-8	chr16:76912171-76912833	NONHSAT143788
5	lnc-RP11-58C22.1.1-4	chr16:76961793-76962066	ENSG00000259995.1

Variant related genes	Relation type
ENSG00000260797	TF binding region
PYGO2	miRNA target sites
QARS	miRNA target sites

Extended variants
information (count: 4899 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4899 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577885778	chr16:76905815-76905816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566344387	chr16:76905835-76905836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369472556	chr16:76905850-76905851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535349909	chr16:76905860-76905861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147661439	chr16:76905876-76905877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557781658	chr16:76905890-76905891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34224555	chr16:76905908-76905909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374176519	chr16:76905939-76905940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537131927	chr16:76905955-76905956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556804536	chr16:76905971-76905972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553954553	chr16:76905981-76905982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533411530	chr16:76906034-76906035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75939820	chr16:76906035-76906036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542423357	chr16:76906053-76906054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28584535	chr16:76906055-76906056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545308530	chr16:76906073-76906074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572752951	chr16:76906102-76906103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544951060	chr16:76906108-76906109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2879983	chr16:76906109-76906110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533189497	chr16:76906145-76906146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562767449	chr16:76906162-76906163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183279060	chr16:76906167-76906168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564501053	chr16:76906181-76906182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529407203	chr16:76906192-76906193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574006550	chr16:76906617-76906618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543146761	chr16:76906624-76906625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533141885	chr16:76906629-76906630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528720669	chr16:76906652-76906653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552023393	chr16:76906666-76906667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374289488	chr16:76906675-76906676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565543914	chr16:76906691-76906692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531244412	chr16:76906698-76906699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550259435	chr16:76906720-76906721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12930135	chr16:76906731-76906732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535957522	chr16:76906738-76906739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546324902	chr16:76906748-76906749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145825212	chr16:76906774-76906775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148969027	chr16:76906797-76906798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558348644	chr16:76906816-76906817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12928705	chr16:76906818-76906819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs538147057	chr16:76906822-76906823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143085179	chr16:76906840-76906841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138621404	chr16:76906860-76906861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77307864	chr16:76906889-76906890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559854288	chr16:76906899-76906900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573389189	chr16:76906950-76906951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545578589	chr16:76906967-76906968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140288517	chr16:76906969-76906970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531108095	chr16:76906993-76906994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74026908	chr16:76906995-76906996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	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
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76905800-76906200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:76906600-76908400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr16:76908400-76912200	Enhancers	Primary hematopoietic stem cells	blood
4	chr16:76909800-76910200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr16:76909800-76911000	Enhancers	Fetal Brain Male	brain
6	chr16:76911000-76913400	Weak transcription	Fetal Brain Male	brain
7	chr16:76912200-76913400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:76912600-76913600	Enhancers	Liver	Liver
9	chr16:76913400-76915200	Enhancers	Fetal Brain Male	brain
10	chr16:76913600-76913800	Enhancers	Primary hematopoietic stem cells	blood
11	chr16:76913600-76914000	Flanking Active TSS	Liver	Liver
12	chr16:76914000-76914200	Enhancers	Liver	Liver
13	chr16:76914400-76915000	Weak transcription	Liver	Liver
14	chr16:76915200-76917000	Weak transcription	Fetal Brain Male	brain
15	chr16:76915800-76916000	Enhancers	Liver	Liver
16	chr16:76916600-76917400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:76916600-76917400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr16:76917000-76917200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr16:76917000-76917400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr16:76917000-76917400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr16:76917000-76917400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr16:76917000-76920800	Enhancers	Fetal Brain Male	brain
23	chr16:76917200-76917400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr16:76917400-76919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr16:76917400-76919200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr16:76917400-76919600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr16:76917600-76919400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr16:76918600-76920600	Enhancers	Brain Germinal Matrix	brain
29	chr16:76919200-76920200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr16:76919200-76920200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr16:76919200-76920200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr16:76919200-76921000	Enhancers	Fetal Brain Female	brain
33	chr16:76919400-76920200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr16:76919400-76920400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr16:76919400-76920400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr16:76919400-76920400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr16:76919400-76921200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr16:76919600-76920200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr16:76919600-76920400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr16:76920200-76921200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr16:76921000-76921400	Weak transcription	Fetal Brain Female	brain
42	chr16:76921200-76921400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr16:76921400-76921800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:76921400-76922200	Enhancers	Fetal Brain Female	brain
45	chr16:76921800-76922200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr16:76922000-76922200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr16:76922000-76922200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr16:76922000-76922200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr16:76922000-76922400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:76922400-76923600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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