Variant report

Variant	nsv833289
Chromosome Location	chr16:76861042-77018896
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	chr16:76980885-76981085	K562	blood:	n/a	n/a
2	ARID3A	chr16:76934165-76934485	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:76913373-76913653	HepG2	liver:	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	chr16:76980721-76981225	A549	lung:	n/a	n/a
7	ATF3	chr16:76980737-76981284	A549	lung:	n/a	n/a
8	ATF3	chr16:77003970-77004466	A549	lung:	n/a	n/a
9	BACH1	chr16:76980807-76981126	K562	blood:	n/a	n/a
10	BACH1	chr16:76980722-76981230	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr16:76980823-76981049	GM12878	blood:	n/a	chr16:76980965-76980976
12	BATF	chr16:76980831-76981097	GM12878	blood:	n/a	chr16:76980965-76980976
13	BATF	chr16:76966506-76966724	GM12878	blood:	n/a	chr16:76966611-76966622 chr16:76966612-76966622
14	BATF	chr16:76966490-76966773	GM12878	blood:	n/a	chr16:76966611-76966622 chr16:76966612-76966622
15	BCL11A	chr16:77010106-77010349	GM12878	blood:	n/a	n/a
16	BCL3	chr16:76980667-76981333	A549	lung:	n/a	n/a
17	BHLHE40	chr16:76937293-76937310	HepG2	liver:	n/a	n/a
18	BHLHE40	chr16:76980800-76981182	K562	blood:	n/a	n/a
19	BHLHE40	chr16:76981970-76981973	HepG2	liver:	n/a	n/a
20	BHLHE40	chr16:76968723-76968754	HepG2	liver:	n/a	n/a
21	CCNT2	chr16:76980827-76981168	K562	blood:	n/a	n/a
22	CEBPB	chr16:76980854-76981067	K562	blood:	n/a	n/a
23	CEBPB	chr16:76913363-76913676	HepG2	liver:	n/a	n/a
24	CEBPB	chr16:76946769-76947111	A549	lung:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
25	CEBPB	chr16:76946798-76946998	Hela-S3	cervix:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
26	CEBPB	chr16:76980741-76981163	A549	lung:	n/a	chr16:76980793-76980804
27	CEBPB	chr16:76921683-76921951	HepG2	liver:	n/a	chr16:76921782-76921793
28	CEBPB	chr16:76868663-76868805	HepG2	liver:	n/a	n/a
29	CEBPB	chr16:76944760-76945585	A549	lung:	n/a	n/a
30	CEBPB	chr16:76905730-76906044	HepG2	liver:	n/a	chr16:76905880-76905891
31	CEBPB	chr16:76989467-76989972	A549	lung:	n/a	n/a
32	CEBPB	chr16:77004002-77004484	A549	lung:	n/a	n/a
33	CEBPB	chr16:76980601-76981286	A549	lung:	n/a	chr16:76980793-76980804
34	CEBPB	chr16:76946642-76947268	A549	lung:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
35	CEBPB	chr16:76944711-76945235	A549	lung:	n/a	n/a
36	CEBPB	chr16:77004609-77004972	A549	lung:	n/a	n/a
37	CEBPB	chr16:76944867-76945106	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr16:76944800-76945363	A549	lung:	n/a	n/a
39	CEBPB	chr16:76944923-76945036	K562	blood:	n/a	n/a
40	CEBPB	chr16:76905764-76905938	IMR90	lung:	n/a	chr16:76905880-76905891
41	CEBPB	chr16:76944829-76945202	IMR90	lung:	n/a	n/a
42	CEBPB	chr16:76921675-76921929	IMR90	lung:	n/a	chr16:76921782-76921793
43	CEBPB	chr16:76929632-76929752	HepG2	liver:	n/a	chr16:76929659-76929670
44	CEBPB	chr16:77004093-77004394	A549	lung:	n/a	n/a
45	CEBPB	chr16:76869340-76869979	A549	lung:	n/a	n/a
46	CEBPB	chr16:76929525-76929786	IMR90	lung:	n/a	chr16:76929659-76929670
47	CEBPB	chr16:76990823-76991056	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr16:76990756-76991050	A549	lung:	n/a	n/a
49	CEBPB	chr16:76980783-76981134	Hela-S3	cervix:	n/a	chr16:76980793-76980804
50	CEBPB	chr16:76920186-76920327	H1-hESC	embryonic stem cell:	n/a	chr16:76920306-76920323

No.	Distal block	Cell Line	Cell type
1	chr16:76886880..76887748-chr16:77077328..77078325,2	MCF-7	breast:
2	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
3	chr16:76887394..76888672-chr16:77203188..77204165,5	MCF-7	breast:
4	chr16:76773881..76775450-chr16:76881262..76882791,2	MCF-7	breast:
5	chr16:76887896..76888842-chr16:77076469..77077719,11	MCF-7	breast:
6	chr16:76887924..76888465-chr16:77203271..77204023,2	MCF-7	breast:
7	chr16:76881611..76883954-chr16:76887729..76889678,2	MCF-7	breast:
8	chr16:76878928..76880909-chr16:76882753..76884640,2	K562	blood:
9	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
10	chr16:76878928..76880909-chr16:76882753..76884640,2	K562	blood:
11	chr16:76887878..76888800-chr16:77205307..77205910,4	MCF-7	breast:
12	chr16:76881611..76883954-chr16:76887729..76889678,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-58C22.1.1-4	chr16:76961793-76962066	ENSG00000259995.1
2	lnc-ADAMTS18-8	chr16:76912171-76912833	NONHSAT143788
3	lnc-RP11-58C22.1.1-4	chr16:76946252-76946305	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: 3911 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3911 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185449735	chr16:76866807-76866808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553846861	chr16:76866814-76866815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370252666	chr16:76866818-76866819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539478565	chr16:76866832-76866833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559871741	chr16:76866840-76866841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535219459	chr16:76866855-76866856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372976309	chr16:76866872-76866873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542393450	chr16:76866904-76866905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562276648	chr16:76866915-76866916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572616279	chr16:76866925-76866926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144824074	chr16:76866930-76866931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78470781	chr16:76866931-76866932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148140465	chr16:76866935-76866936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189927594	chr16:76866936-76866937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553559039	chr16:76866940-76866941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549403838	chr16:76866943-76866944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377007688	chr16:76866957-76866958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs118131787	chr16:76867026-76867027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371364351	chr16:76867035-76867036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143946935	chr16:76867099-76867100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565883871	chr16:76867112-76867113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147295822	chr16:76867118-76867119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551632343	chr16:76867125-76867126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182506252	chr16:76867129-76867130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539838695	chr16:76867133-76867134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184608689	chr16:76867136-76867137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556599875	chr16:76867145-76867146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570124063	chr16:76867174-76867175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188222444	chr16:76867184-76867185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555967220	chr16:76867197-76867198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572575503	chr16:76867228-76867229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368503193	chr16:76867296-76867297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370752890	chr16:76867321-76867322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558416370	chr16:76867322-76867323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566074298	chr16:76867334-76867335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534748096	chr16:76867361-76867362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180709460	chr16:76867376-76867377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74025182	chr16:76867390-76867391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528923819	chr16:76867392-76867393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191577818	chr16:76867393-76867394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139607809	chr16:76867418-76867419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74025183	chr16:76867442-76867443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114594260	chr16:76867451-76867452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74025184	chr16:76867484-76867485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187073359	chr16:76867526-76867527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550164916	chr16:76867529-76867530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117091951	chr16:76867534-76867535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75105700	chr16:76867564-76867565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574910739	chr16:76867571-76867572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557607543	chr16:76867577-76867578	Weak transcription	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:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76866800-76867000	Enhancers	Pancreas	Pancrea
2	chr16:76867000-76868800	Weak transcription	Pancreas	Pancrea
3	chr16:76868800-76869000	Genic enhancers	Pancreas	Pancrea
4	chr16:76869000-76869400	Weak transcription	Pancreas	Pancrea
5	chr16:76869200-76869600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:76869200-76869800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:76870000-76870200	Enhancers	Brain Germinal Matrix	brain
8	chr16:76870800-76871000	Enhancers	Brain Germinal Matrix	brain
9	chr16:76884600-76885000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:76884600-76885000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
11	chr16:76886000-76887000	Enhancers	Fetal Lung	lung
12	chr16:76897000-76897400	Enhancers	Fetal Brain Female	brain
13	chr16:76901000-76901400	Enhancers	Liver	Liver
14	chr16:76905800-76906200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr16:76906600-76908400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr16:76908400-76912200	Enhancers	Primary hematopoietic stem cells	blood
17	chr16:76909800-76910200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr16:76909800-76911000	Enhancers	Fetal Brain Male	brain
19	chr16:76911000-76913400	Weak transcription	Fetal Brain Male	brain
20	chr16:76912200-76913400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr16:76912600-76913600	Enhancers	Liver	Liver
22	chr16:76913400-76915200	Enhancers	Fetal Brain Male	brain
23	chr16:76913600-76913800	Enhancers	Primary hematopoietic stem cells	blood
24	chr16:76913600-76914000	Flanking Active TSS	Liver	Liver
25	chr16:76914000-76914200	Enhancers	Liver	Liver
26	chr16:76914400-76915000	Weak transcription	Liver	Liver
27	chr16:76915200-76917000	Weak transcription	Fetal Brain Male	brain
28	chr16:76915800-76916000	Enhancers	Liver	Liver
29	chr16:76916600-76917400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:76916600-76917400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr16:76917000-76917200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr16:76917000-76917400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr16:76917000-76917400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr16:76917000-76917400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr16:76917000-76920800	Enhancers	Fetal Brain Male	brain
36	chr16:76917200-76917400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr16:76917400-76919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr16:76917400-76919200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr16:76917400-76919600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr16:76917600-76919400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:76918600-76920600	Enhancers	Brain Germinal Matrix	brain
42	chr16:76919200-76920200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr16:76919200-76920200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr16:76919200-76920200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr16:76919200-76921000	Enhancers	Fetal Brain Female	brain
46	chr16:76919400-76920200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr16:76919400-76920400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr16:76919400-76920400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr16:76919400-76920400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr16:76919400-76921200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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