Variant report

Variant	nsv906948
Chromosome Location	chr16:76844155-77005187
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	chr16:76913373-76913653	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:76980885-76981085	K562	blood:	n/a	n/a
3	ARID3A	chr16:76934165-76934485	HepG2	liver:	n/a	n/a
4	ATF3	chr16:76980721-76981225	A549	lung:	n/a	n/a
5	ATF3	chr16:77003970-77004466	A549	lung:	n/a	n/a
6	ATF3	chr16:76980737-76981284	A549	lung:	n/a	n/a
7	ATF3	chr16:76980774-76981124	K562	blood:	n/a	n/a
8	BACH1	chr16:76980807-76981126	K562	blood:	n/a	n/a
9	BACH1	chr16:76980722-76981230	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr16:76850471-76850665	GM12878	blood:	n/a	chr16:76850562-76850573
11	BATF	chr16:76856386-76856604	GM12878	blood:	n/a	n/a
12	BATF	chr16:76856327-76856649	GM12878	blood:	n/a	n/a
13	BATF	chr16:76980823-76981049	GM12878	blood:	n/a	chr16:76980965-76980976
14	BATF	chr16:76966506-76966724	GM12878	blood:	n/a	chr16:76966611-76966622 chr16:76966612-76966622
15	BATF	chr16:76850433-76850727	GM12878	blood:	n/a	chr16:76850562-76850573
16	BATF	chr16:76966490-76966773	GM12878	blood:	n/a	chr16:76966611-76966622 chr16:76966612-76966622
17	BATF	chr16:76980831-76981097	GM12878	blood:	n/a	chr16:76980965-76980976
18	BCL3	chr16:76980667-76981333	A549	lung:	n/a	n/a
19	BHLHE40	chr16:76981970-76981973	HepG2	liver:	n/a	n/a
20	BHLHE40	chr16:76937293-76937310	HepG2	liver:	n/a	n/a
21	BHLHE40	chr16:76980800-76981182	K562	blood:	n/a	n/a
22	BHLHE40	chr16:76968723-76968754	HepG2	liver:	n/a	n/a
23	CCNT2	chr16:76980827-76981168	K562	blood:	n/a	n/a
24	CEBPB	chr16:76944760-76945585	A549	lung:	n/a	n/a
25	CEBPB	chr16:76952420-76952678	A549	lung:	n/a	n/a
26	CEBPB	chr16:77004093-77004394	A549	lung:	n/a	n/a
27	CEBPB	chr16:76868663-76868805	HepG2	liver:	n/a	n/a
28	CEBPB	chr16:77004639-77004999	HepG2	liver:	n/a	n/a
29	CEBPB	chr16:76946769-76947111	A549	lung:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
30	CEBPB	chr16:76946786-76947018	K562	blood:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
31	CEBPB	chr16:76946832-76947044	HepG2	liver:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
32	CEBPB	chr16:76905764-76905938	IMR90	lung:	n/a	chr16:76905880-76905891
33	CEBPB	chr16:76869340-76869979	A549	lung:	n/a	n/a
34	CEBPB	chr16:76913363-76913676	HepG2	liver:	n/a	n/a
35	CEBPB	chr16:76929632-76929752	HepG2	liver:	n/a	chr16:76929659-76929670
36	CEBPB	chr16:76944867-76945106	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr16:76857050-76857179	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr16:76887158-76887345	HepG2	liver:	n/a	n/a
39	CEBPB	chr16:76853511-76853654	H1-hESC	embryonic stem cell:	n/a	chr16:76853623-76853634
40	CEBPB	chr16:76929525-76929786	IMR90	lung:	n/a	chr16:76929659-76929670
41	CEBPB	chr16:76980741-76981163	A549	lung:	n/a	chr16:76980793-76980804
42	CEBPB	chr16:76990823-76991056	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr16:76990756-76991050	A549	lung:	n/a	n/a
44	CEBPB	chr16:76921675-76921929	IMR90	lung:	n/a	chr16:76921782-76921793
45	CEBPB	chr16:76980783-76981134	Hela-S3	cervix:	n/a	chr16:76980793-76980804
46	CEBPB	chr16:76944829-76945202	IMR90	lung:	n/a	n/a
47	CEBPB	chr16:76989467-76989972	A549	lung:	n/a	n/a
48	CEBPB	chr16:77004002-77004484	A549	lung:	n/a	n/a
49	CEBPB	chr16:76980854-76981067	K562	blood:	n/a	n/a
50	CEBPB	chr16:76980764-76981128	A549	lung:	n/a	chr16:76980793-76980804

No.	Distal block	Cell Line	Cell type
1	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
2	chr16:76856883..76857419-chr16:77076804..77077643,2	MCF-7	breast:
3	chr16:76881611..76883954-chr16:76887729..76889678,2	MCF-7	breast:
4	chr16:76773881..76775450-chr16:76881262..76882791,2	MCF-7	breast:
5	chr16:76887924..76888465-chr16:77203271..77204023,2	MCF-7	breast:
6	chr16:76881611..76883954-chr16:76887729..76889678,2	MCF-7	breast:
7	chr16:76687186..76688106-chr16:76857078..76857671,2	MCF-7	breast:
8	chr16:76887394..76888672-chr16:77203188..77204165,5	MCF-7	breast:
9	chr16:76846196..76848121-chr16:76848521..76851117,2	MCF-7	breast:
10	chr16:76846196..76848121-chr16:76848521..76851117,2	MCF-7	breast:
11	chr16:76878928..76880909-chr16:76882753..76884640,2	K562	blood:
12	chr16:76887896..76888842-chr16:77076469..77077719,11	MCF-7	breast:
13	chr16:76886880..76887748-chr16:77077328..77078325,2	MCF-7	breast:
14	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
15	chr16:76844876..76847420-chr19:45599129..45600971,2	MCF-7	breast:
16	chr16:76887878..76888800-chr16:77205307..77205910,4	MCF-7	breast:
17	chr16:76878928..76880909-chr16:76882753..76884640,2	K562	blood:

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

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4719	chr16:76902885-76902906	MIMAT0019832

Variant related genes	Relation type
ENSG00000260797	TF binding region
MIR4719	TF binding region

Extended variants
information (count: 4001 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:4001 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147876336	chr16:76850005-76850006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111400117	chr16:76850026-76850027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568800725	chr16:76850037-76850038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574654382	chr16:76850039-76850040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540446592	chr16:76850067-76850068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565784672	chr16:76850072-76850073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376850949	chr16:76850073-76850074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577460952	chr16:76850105-76850106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4888557	chr16:76850155-76850156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562298962	chr16:76850157-76850158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76124358	chr16:76850175-76850176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541913231	chr16:76850189-76850190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561788755	chr16:76850190-76850191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141891831	chr16:76850201-76850202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74696849	chr16:76850294-76850295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183970593	chr16:76850304-76850305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11149924	chr16:76850338-76850339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368649745	chr16:76850346-76850347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569114166	chr16:76850366-76850367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11149925	chr16:76850377-76850378	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188258680	chr16:76850400-76850401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74025165	chr16:76850419-76850420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11149926	chr16:76850420-76850421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530033748	chr16:76850425-76850426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74025166	chr16:76850434-76850435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577374648	chr16:76850505-76850506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573414157	chr16:76850514-76850515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191896736	chr16:76850526-76850527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374103657	chr16:76850550-76850551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201604438	chr16:76850551-76850552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556833882	chr16:76850554-76850555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576079114	chr16:76850562-76850563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556139133	chr16:76850583-76850584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541825517	chr16:76850584-76850585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561701162	chr16:76850596-76850597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548763105	chr16:76851212-76851213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570903598	chr16:76851221-76851222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182356941	chr16:76851230-76851231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185203205	chr16:76851232-76851233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117355148	chr16:76851245-76851246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536108989	chr16:76851247-76851248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556104421	chr16:76851289-76851290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565642714	chr16:76851293-76851294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531509773	chr16:76851315-76851316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79863660	chr16:76851332-76851333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557494839	chr16:76851382-76851383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142451313	chr16:76851432-76851433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13334515	chr16:76851453-76851454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556692638	chr16:76851457-76851458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139804930	chr16:76851468-76851469	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76850000-76850600	Enhancers	HMEC	breast
2	chr16:76851200-76853800	Enhancers	Fetal Brain Male	brain
3	chr16:76851800-76853000	Enhancers	Fetal Stomach	stomach
4	chr16:76852000-76853600	Enhancers	Primary hematopoietic stem cells	blood
5	chr16:76852200-76853200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:76852400-76852800	Enhancers	Fetal Lung	lung
7	chr16:76852400-76853200	Enhancers	Fetal Brain Female	brain
8	chr16:76853200-76854000	Weak transcription	Fetal Brain Female	brain
9	chr16:76853200-76855200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:76853800-76857400	Weak transcription	Fetal Brain Male	brain
11	chr16:76854000-76854200	Enhancers	Fetal Brain Female	brain
12	chr16:76855200-76857000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:76856600-76856800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:76856800-76857400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:76857000-76857400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:76857400-76858600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:76857400-76858800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:76857400-76859600	Enhancers	Fetal Brain Male	brain
19	chr16:76866800-76867000	Enhancers	Pancreas	Pancrea
20	chr16:76867000-76868800	Weak transcription	Pancreas	Pancrea
21	chr16:76868800-76869000	Genic enhancers	Pancreas	Pancrea
22	chr16:76869000-76869400	Weak transcription	Pancreas	Pancrea
23	chr16:76869200-76869600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:76869200-76869800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:76870000-76870200	Enhancers	Brain Germinal Matrix	brain
26	chr16:76870800-76871000	Enhancers	Brain Germinal Matrix	brain
27	chr16:76884600-76885000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:76884600-76885000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
29	chr16:76886000-76887000	Enhancers	Fetal Lung	lung
30	chr16:76897000-76897400	Enhancers	Fetal Brain Female	brain
31	chr16:76901000-76901400	Enhancers	Liver	Liver
32	chr16:76905800-76906200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:76906600-76908400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr16:76908400-76912200	Enhancers	Primary hematopoietic stem cells	blood
35	chr16:76909800-76910200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr16:76909800-76911000	Enhancers	Fetal Brain Male	brain
37	chr16:76911000-76913400	Weak transcription	Fetal Brain Male	brain
38	chr16:76912200-76913400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr16:76912600-76913600	Enhancers	Liver	Liver
40	chr16:76913400-76915200	Enhancers	Fetal Brain Male	brain
41	chr16:76913600-76913800	Enhancers	Primary hematopoietic stem cells	blood
42	chr16:76913600-76914000	Flanking Active TSS	Liver	Liver
43	chr16:76914000-76914200	Enhancers	Liver	Liver
44	chr16:76914400-76915000	Weak transcription	Liver	Liver
45	chr16:76915200-76917000	Weak transcription	Fetal Brain Male	brain
46	chr16:76915800-76916000	Enhancers	Liver	Liver
47	chr16:76916600-76917400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:76916600-76917400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr16:76917000-76917200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr16:76917000-76917400	Enhancers	H1 Cell Line	embryonic stem cell

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