Variant report

Variant	nsv471083
Chromosome Location	chr16:12704140-12714394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:529)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:12704032-12704253	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:12706308-12708260	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:12707160-12707764	K562	blood:	n/a	n/a
4	ATF1	chr16:12704812-12705249	K562	blood:	n/a	n/a
5	ATF1	chr16:12707276-12707833	K562	blood:	n/a	n/a
6	ATF1	chr16:12706396-12706792	K562	blood:	n/a	n/a
7	ATF2	chr16:12707009-12707939	GM12878	blood:	n/a	n/a
8	ATF2	chr16:12706985-12707963	GM12878	blood:	n/a	n/a
9	ATF2	chr16:12711299-12711778	GM12878	blood:	n/a	n/a
10	ATF2	chr16:12711247-12711789	GM12878	blood:	n/a	n/a
11	ATF3	chr16:12707532-12707884	K562	blood:	n/a	n/a
12	ATF3	chr16:12707553-12707788	K562	blood:	n/a	n/a
13	ATF3	chr16:12707254-12707910	A549	lung:	n/a	n/a
14	ATF3	chr16:12707409-12708140	A549	lung:	n/a	n/a
15	BACH1	chr16:12707531-12707771	K562	blood:	n/a	n/a
16	BACH1	chr16:12707365-12707905	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr16:12707513-12707826	GM12878	blood:	n/a	chr16:12707702-12707713
18	BATF	chr16:12707465-12707911	GM12878	blood:	n/a	chr16:12707702-12707713
19	BATF	chr16:12711387-12711724	GM12878	blood:	n/a	n/a
20	BCL11A	chr16:12707382-12707866	GM12878	blood:	n/a	n/a
21	BCL11A	chr16:12707487-12707794	GM12878	blood:	n/a	n/a
22	BCL11A	chr16:12711403-12711675	GM12878	blood:	n/a	n/a
23	BCL3	chr16:12711340-12711723	GM12878	blood:	n/a	n/a
24	BCL3	chr16:12707023-12707991	A549	lung:	n/a	n/a
25	BCL3	chr16:12707411-12707905	GM12878	blood:	n/a	n/a
26	BCL3	chr16:12707079-12708023	A549	lung:	n/a	n/a
27	BCL3	chr16:12707490-12707825	GM12878	blood:	n/a	n/a
28	BCLAF1	chr16:12707246-12707930	GM12878	blood:	n/a	n/a
29	BHLHE40	chr16:12707185-12708266	HepG2	liver:	n/a	n/a
30	BHLHE40	chr16:12706481-12706681	A549	lung:	n/a	n/a
31	BHLHE40	chr16:12704952-12705132	K562	blood:	n/a	n/a
32	BHLHE40	chr16:12707450-12707858	HepG2	liver:	n/a	n/a
33	BHLHE40	chr16:12706196-12706208	K562	blood:	n/a	n/a
34	BHLHE40	chr16:12707308-12708223	K562	blood:	n/a	n/a
35	BHLHE40	chr16:12706445-12706812	K562	blood:	n/a	n/a
36	BHLHE40	chr16:12706410-12706828	HepG2	liver:	n/a	n/a
37	BHLHE40	chr16:12707133-12707889	GM12878	blood:	n/a	n/a
38	BHLHE40	chr16:12707464-12707820	HepG2	liver:	n/a	n/a
39	BRCA1	chr16:12707059-12708166	HepG2	liver:	n/a	n/a
40	CBX3	chr16:12707283-12707852	K562	blood:	n/a	n/a
41	CBX3	chr16:12706342-12707174	K562	blood:	n/a	n/a
42	CBX3	chr16:12707365-12707997	HCT-116	colon:	n/a	n/a
43	CCNT2	chr16:12707190-12707831	K562	blood:	n/a	n/a
44	CEBPB	chr16:12711148-12711874	GM12878	blood:	n/a	n/a
45	CEBPB	chr16:12707347-12708054	HCT-116	colon:	n/a	n/a
46	CEBPB	chr16:12707592-12707894	K562	blood:	n/a	n/a
47	CEBPB	chr16:12707448-12708041	A549	lung:	n/a	n/a
48	CEBPB	chr16:12705130-12705148	K562	blood:	n/a	n/a
49	CEBPB	chr16:12703999-12704306	HepG2	liver:	n/a	n/a
50	CEBPB	chr16:12707594-12708033	A549	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12667518..12668062-chr16:12712002..12712507,2	MCF-7	breast:
2	chr16:12711260..12713112-chr16:12746469..12749358,2	K562	blood:
3	chr16:12712125..12713836-chr16:12719927..12722157,2	K562	blood:
4	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
5	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
6	chr16:12709815..12712137-chr16:12715749..12717929,2	K562	blood:
7	chr16:12705693..12708514-chr16:12893374..12897390,4	K562	blood:
8	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
9	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
10	chr16:12705693..12707355-chr16:12894687..12897390,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPPED1-2	chr16:12704595-12704901	ENSG00000259899.1

No data

Variant related genes	Relation type
ENSG00000259899	TF binding region

Extended variants
information (count: 1303 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1303 , 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	rs371151748	chr16:12704140-12704141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376728659	chr16:12704150-12704151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189714513	chr16:12704151-12704152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200851133	chr16:12704169-12704170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532806500	chr16:12704189-12704190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79406753	chr16:12704194-12704195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569571840	chr16:12704201-12704202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77772336	chr16:12704206-12704207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79530300	chr16:12704208-12704209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181009020	chr16:12704212-12704213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186057954	chr16:12704225-12704226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554346711	chr16:12704227-12704228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145322589	chr16:12704229-12704230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114932760	chr16:12704238-12704239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147138169	chr16:12704244-12704245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192084557	chr16:12704253-12704254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534539528	chr16:12704258-12704259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183978047	chr16:12704259-12704260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115390111	chr16:12704268-12704269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139463708	chr16:12704272-12704273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149684658	chr16:12704282-12704283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563887067	chr16:12704287-12704288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs68129625	chr16:12704291-12704292	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535908790	chr16:12704292-12704293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549330376	chr16:12704295-12704296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555564482	chr16:12704296-12704297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569330011	chr16:12704300-12704301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76662355	chr16:12704312-12704313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144659169	chr16:12704326-12704327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188470780	chr16:12704328-12704329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113015754	chr16:12704331-12704332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190507473	chr16:12704346-12704347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182714733	chr16:12704364-12704365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186994423	chr16:12704365-12704366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368569079	chr16:12704370-12704371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191771812	chr16:12704374-12704375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576386650	chr16:12704375-12704376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539034160	chr16:12704383-12704384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571011708	chr16:12704391-12704392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9806831	chr16:12704395-12704396	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148858622	chr16:12704402-12704403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9806858	chr16:12704421-12704422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs143776254	chr16:12704427-12704428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576077725	chr16:12704440-12704441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532834235	chr16:12704447-12704448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543137969	chr16:12704467-12704468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116494157	chr16:12704469-12704470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557375212	chr16:12704473-12704474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2217271	chr16:12704480-12704481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146861250	chr16:12704486-12704487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12703400-12706400	Enhancers	HepG2	liver
2	chr16:12703400-12706800	Enhancers	Liver	Liver
3	chr16:12703600-12704600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr16:12703800-12704600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr16:12703800-12706800	Enhancers	K562	blood
6	chr16:12703800-12708000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:12704000-12704200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:12704000-12704400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:12704000-12704400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:12704000-12708800	Enhancers	Placenta	Placenta
11	chr16:12704200-12708400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:12704400-12705600	Enhancers	A549	lung
13	chr16:12704400-12707400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:12704400-12707400	Enhancers	Stomach Mucosa	stomach
15	chr16:12704600-12705000	Enhancers	HMEC	breast
16	chr16:12704600-12708200	Enhancers	NHEK	skin
17	chr16:12704800-12705000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:12704800-12705000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:12704800-12705000	Enhancers	Esophagus	oesophagus
20	chr16:12704800-12705800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:12704800-12707200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr16:12704800-12709400	Enhancers	Fetal Intestine Large	intestine
23	chr16:12705000-12705200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr16:12705000-12705600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr16:12705000-12706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:12705000-12706400	Weak transcription	HMEC	breast
27	chr16:12705000-12707800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:12705000-12709000	Enhancers	Fetal Intestine Small	intestine
29	chr16:12705400-12705600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr16:12705600-12705800	Flanking Active TSS	A549	lung
31	chr16:12705600-12706400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr16:12705600-12706800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr16:12705600-12707200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:12705800-12706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:12705800-12706200	Enhancers	A549	lung
36	chr16:12706000-12708800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:12706200-12707200	Enhancers	Duodenum Mucosa	Duodenum
38	chr16:12706200-12707200	Flanking Active TSS	A549	lung
39	chr16:12706200-12708000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:12706400-12706600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr16:12706400-12706800	Enhancers	Fetal Kidney	kidney
42	chr16:12706400-12707400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:12706400-12707400	Enhancers	Primary hematopoietic stem cells	blood
44	chr16:12706400-12708200	Enhancers	NH-A	brain
45	chr16:12706400-12708400	Flanking Active TSS	HepG2	liver
46	chr16:12706400-12708400	Enhancers	HMEC	breast
47	chr16:12706400-12709000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr16:12706400-12709000	Enhancers	Fetal Thymus	thymus
49	chr16:12706600-12707000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr16:12706600-12707600	Enhancers	Dnd41	blood

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