Variant report

Variant	esv2830029
Chromosome Location	chr16:76915496-77013237
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	ATF2	chr16:77010103-77010377	GM12878	blood:	n/a	n/a
4	ATF3	chr16:76980774-76981124	K562	blood:	n/a	n/a
5	ATF3	chr16:76980721-76981225	A549	lung:	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	BACH1	chr16:76980722-76981230	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr16:76980807-76981126	K562	blood:	n/a	n/a
10	BATF	chr16:76966490-76966773	GM12878	blood:	n/a	chr16:76966611-76966622 chr16:76966612-76966622
11	BATF	chr16:76966506-76966724	GM12878	blood:	n/a	chr16:76966611-76966622 chr16:76966612-76966622
12	BATF	chr16:76980831-76981097	GM12878	blood:	n/a	chr16:76980965-76980976
13	BATF	chr16:76980823-76981049	GM12878	blood:	n/a	chr16:76980965-76980976
14	BCL11A	chr16:77010106-77010349	GM12878	blood:	n/a	n/a
15	BCL3	chr16:76980667-76981333	A549	lung:	n/a	n/a
16	BHLHE40	chr16:76968723-76968754	HepG2	liver:	n/a	n/a
17	BHLHE40	chr16:76980800-76981182	K562	blood:	n/a	n/a
18	BHLHE40	chr16:76937293-76937310	HepG2	liver:	n/a	n/a
19	BHLHE40	chr16:76981970-76981973	HepG2	liver:	n/a	n/a
20	CCNT2	chr16:76980827-76981168	K562	blood:	n/a	n/a
21	CEBPB	chr16:76920186-76920327	H1-hESC	embryonic stem cell:	n/a	chr16:76920306-76920323
22	CEBPB	chr16:76980783-76981134	Hela-S3	cervix:	n/a	chr16:76980793-76980804
23	CEBPB	chr16:76944760-76945585	A549	lung:	n/a	n/a
24	CEBPB	chr16:76946642-76947268	A549	lung:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
25	CEBPB	chr16:76989467-76989972	A549	lung:	n/a	n/a
26	CEBPB	chr16:76929632-76929752	HepG2	liver:	n/a	chr16:76929659-76929670
27	CEBPB	chr16:76962748-76962868	HepG2	liver:	n/a	chr16:76962812-76962823
28	CEBPB	chr16:77004639-77004999	HepG2	liver:	n/a	n/a
29	CEBPB	chr16:76946786-76947018	K562	blood:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
30	CEBPB	chr16:76929525-76929786	IMR90	lung:	n/a	chr16:76929659-76929670
31	CEBPB	chr16:77004609-77004972	A549	lung:	n/a	n/a
32	CEBPB	chr16:76921714-76921937	H1-hESC	embryonic stem cell:	n/a	chr16:76921782-76921793
33	CEBPB	chr16:76944711-76945235	A549	lung:	n/a	n/a
34	CEBPB	chr16:76946832-76947044	HepG2	liver:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
35	CEBPB	chr16:76921683-76921951	HepG2	liver:	n/a	chr16:76921782-76921793
36	CEBPB	chr16:76990823-76991056	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr16:76921675-76921929	IMR90	lung:	n/a	chr16:76921782-76921793
38	CEBPB	chr16:76952420-76952678	A549	lung:	n/a	n/a
39	CEBPB	chr16:77004002-77004484	A549	lung:	n/a	n/a
40	CEBPB	chr16:76944867-76945106	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr16:76980601-76981286	A549	lung:	n/a	chr16:76980793-76980804
42	CEBPB	chr16:76980854-76981067	K562	blood:	n/a	n/a
43	CEBPB	chr16:76980764-76981128	A549	lung:	n/a	chr16:76980793-76980804
44	CEBPB	chr16:76946769-76947111	A549	lung:	n/a	chr16:76946917-76946930 chr16:76946917-76946930 chr16:76946918-76946929
45	CEBPB	chr16:76944923-76945036	K562	blood:	n/a	n/a
46	CEBPB	chr16:76990756-76991050	A549	lung:	n/a	n/a
47	CEBPB	chr16:76944829-76945202	IMR90	lung:	n/a	n/a
48	CEBPB	chr16:77004093-77004394	A549	lung:	n/a	n/a
49	CEBPB	chr16:76944800-76945363	A549	lung:	n/a	n/a
50	CEBPB	chr16:76980741-76981163	A549	lung:	n/a	chr16:76980793-76980804

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
2	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-58C22.1.1-4	chr16:76946252-76946305	ENSG00000259995.1
2	lnc-RP11-58C22.1.1-4	chr16:76961793-76962066	ENSG00000259995.1

Variant related genes	Relation type
ENSG00000260797	TF binding region

Extended variants
information (count: 2885 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2885 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12929999	chr16:76915496-76915497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527280605	chr16:76915498-76915499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550295071	chr16:76915528-76915529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567038685	chr16:76915547-76915548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370557396	chr16:76915618-76915619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186160626	chr16:76915626-76915627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546481194	chr16:76915639-76915640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566717440	chr16:76915651-76915652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8055570	chr16:76915658-76915659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551747951	chr16:76915674-76915675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571694436	chr16:76915675-76915676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575810107	chr16:76915679-76915680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537523958	chr16:76915693-76915694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557454759	chr16:76915694-76915695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576889514	chr16:76915715-76915716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141074138	chr16:76915720-76915721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190268449	chr16:76915738-76915739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115890396	chr16:76915759-76915760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559353212	chr16:76915781-76915782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573480854	chr16:76915790-76915791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11149931	chr16:76915831-76915832	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11649495	chr16:76915846-76915847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574860068	chr16:76915881-76915882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34744285	chr16:76915916-76915917	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs540441531	chr16:76915942-76915943	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs73626615	chr16:76915965-76915966	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560601797	chr16:76916051-76916052	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs529760961	chr16:76916053-76916054	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560653630	chr16:76916076-76916077	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369577579	chr16:76916085-76916086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs546762850	chr16:76916090-76916091	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs181875249	chr16:76916101-76916102	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530658643	chr16:76916170-76916171	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs186943522	chr16:76916182-76916183	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs376462364	chr16:76916202-76916203	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs549849517	chr16:76916220-76916221	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569844052	chr16:76916222-76916223	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs528173125	chr16:76916227-76916228	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs145301991	chr16:76916255-76916256	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs79936045	chr16:76916280-76916281	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs544635573	chr16:76916304-76916305	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs147652169	chr16:76916351-76916352	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs373427551	chr16:76916400-76916401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375923028	chr16:76916411-76916412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs191135181	chr16:76916437-76916438	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs79096707	chr16:76916441-76916442	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs142273029	chr16:76916457-76916458	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs34382406	chr16:76916489-76916490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72792584	chr16:76916506-76916507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs149451870	chr16:76916520-76916521	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	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76915200-76917000	Weak transcription	Fetal Brain Male	brain
2	chr16:76915800-76916000	Enhancers	Liver	Liver
3	chr16:76916600-76917400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:76916600-76917400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr16:76917000-76917200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr16:76917000-76917400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr16:76917000-76917400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr16:76917000-76917400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr16:76917000-76920800	Enhancers	Fetal Brain Male	brain
10	chr16:76917200-76917400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr16:76917400-76919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr16:76917400-76919200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr16:76917400-76919600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:76917600-76919400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:76918600-76920600	Enhancers	Brain Germinal Matrix	brain
16	chr16:76919200-76920200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr16:76919200-76920200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr16:76919200-76920200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr16:76919200-76921000	Enhancers	Fetal Brain Female	brain
20	chr16:76919400-76920200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr16:76919400-76920400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr16:76919400-76920400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr16:76919400-76920400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr16:76919400-76921200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr16:76919600-76920200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr16:76919600-76920400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr16:76920200-76921200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr16:76921000-76921400	Weak transcription	Fetal Brain Female	brain
29	chr16:76921200-76921400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr16:76921400-76921800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:76921400-76922200	Enhancers	Fetal Brain Female	brain
32	chr16:76921800-76922200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr16:76922000-76922200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr16:76922000-76922200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr16:76922000-76922200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr16:76922000-76922400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:76922400-76923600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:76923600-76923800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:76930200-76933200	Weak transcription	Fetal Kidney	kidney
40	chr16:76931400-76932400	Enhancers	HMEC	breast
41	chr16:76931400-76935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr16:76931600-76932400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:76932000-76932200	Enhancers	A549	lung
44	chr16:76932200-76933600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:76932200-76933600	Weak transcription	A549	lung
46	chr16:76932400-76932600	Enhancers	Pancreas	Pancrea
47	chr16:76932600-76940200	Weak transcription	Pancreas	Pancrea
48	chr16:76933200-76933600	Enhancers	Spleen	Spleen
49	chr16:76933200-76935400	Enhancers	Fetal Kidney	kidney
50	chr16:76933600-76934200	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links