Variant report

Variant	nsv571478
Chromosome Location	chr16:12705930-12711025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:426)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:12707160-12707764	K562	blood:	n/a	n/a
2	ARID3A	chr16:12706308-12708260	HepG2	liver:	n/a	n/a
3	ATF1	chr16:12707276-12707833	K562	blood:	n/a	n/a
4	ATF1	chr16:12706396-12706792	K562	blood:	n/a	n/a
5	ATF2	chr16:12707009-12707939	GM12878	blood:	n/a	n/a
6	ATF2	chr16:12706985-12707963	GM12878	blood:	n/a	n/a
7	ATF3	chr16:12707532-12707884	K562	blood:	n/a	n/a
8	ATF3	chr16:12707553-12707788	K562	blood:	n/a	n/a
9	ATF3	chr16:12707254-12707910	A549	lung:	n/a	n/a
10	ATF3	chr16:12707409-12708140	A549	lung:	n/a	n/a
11	BACH1	chr16:12707365-12707905	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr16:12707531-12707771	K562	blood:	n/a	n/a
13	BATF	chr16:12707465-12707911	GM12878	blood:	n/a	chr16:12707702-12707713
14	BATF	chr16:12707513-12707826	GM12878	blood:	n/a	chr16:12707702-12707713
15	BCL11A	chr16:12707487-12707794	GM12878	blood:	n/a	n/a
16	BCL11A	chr16:12707382-12707866	GM12878	blood:	n/a	n/a
17	BCL3	chr16:12707079-12708023	A549	lung:	n/a	n/a
18	BCL3	chr16:12707490-12707825	GM12878	blood:	n/a	n/a
19	BCL3	chr16:12707023-12707991	A549	lung:	n/a	n/a
20	BCL3	chr16:12707411-12707905	GM12878	blood:	n/a	n/a
21	BCLAF1	chr16:12707246-12707930	GM12878	blood:	n/a	n/a
22	BHLHE40	chr16:12706445-12706812	K562	blood:	n/a	n/a
23	BHLHE40	chr16:12706481-12706681	A549	lung:	n/a	n/a
24	BHLHE40	chr16:12706196-12706208	K562	blood:	n/a	n/a
25	BHLHE40	chr16:12707308-12708223	K562	blood:	n/a	n/a
26	BHLHE40	chr16:12707185-12708266	HepG2	liver:	n/a	n/a
27	BHLHE40	chr16:12707133-12707889	GM12878	blood:	n/a	n/a
28	BHLHE40	chr16:12706410-12706828	HepG2	liver:	n/a	n/a
29	BHLHE40	chr16:12707450-12707858	HepG2	liver:	n/a	n/a
30	BHLHE40	chr16:12707464-12707820	HepG2	liver:	n/a	n/a
31	BRCA1	chr16:12707059-12708166	HepG2	liver:	n/a	n/a
32	CBX3	chr16:12706342-12707174	K562	blood:	n/a	n/a
33	CBX3	chr16:12707365-12707997	HCT-116	colon:	n/a	n/a
34	CBX3	chr16:12707283-12707852	K562	blood:	n/a	n/a
35	CCNT2	chr16:12707190-12707831	K562	blood:	n/a	n/a
36	CEBPB	chr16:12707592-12707894	K562	blood:	n/a	n/a
37	CEBPB	chr16:12706987-12707884	GM12878	blood:	n/a	n/a
38	CEBPB	chr16:12707448-12708041	A549	lung:	n/a	n/a
39	CEBPB	chr16:12707689-12707907	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr16:12707347-12708054	HCT-116	colon:	n/a	n/a
41	CEBPB	chr16:12707507-12707915	K562	blood:	n/a	n/a
42	CEBPB	chr16:12707594-12708033	A549	lung:	n/a	n/a
43	CEBPB	chr16:12707325-12708166	HepG2	liver:	n/a	n/a
44	CEBPZ	chr16:12706596-12708090	HepG2	liver:	n/a	n/a
45	CHD1	chr16:12707209-12707533	GM12878	blood:	n/a	n/a
46	CHD2	chr16:12707141-12707897	GM12878	blood:	n/a	n/a
47	CHD2	chr16:12708474-12708654	HepG2	liver:	n/a	n/a
48	CHD2	chr16:12707223-12708151	HepG2	liver:	n/a	n/a
49	CTCF	chr16:12706582-12706649	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr16:12707760-12707910	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
2	chr16:12705693..12708514-chr16:12893374..12897390,4	K562	blood:
3	chr16:12705693..12707355-chr16:12894687..12897390,2	K562	blood:
4	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
5	chr16:12709815..12712137-chr16:12715749..12717929,2	K562	blood:
6	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
7	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259899	TF binding region

Extended variants
information (count: 665 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7201128	chr16:12705930-12705931	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs59778611	chr16:12705946-12705947	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs139091232	chr16:12705962-12705963	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373210000	chr16:12705973-12705974	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144065219	chr16:12705981-12705982	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs187930910	chr16:12705983-12705984	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs549065513	chr16:12706007-12706008	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs563082073	chr16:12706015-12706016	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs146834555	chr16:12706029-12706030	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs28508433	chr16:12706031-12706032	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561582524	chr16:12706032-12706033	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs58508115	chr16:12706036-12706037	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542825872	chr16:12706039-12706040	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs78968599	chr16:12706048-12706049	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs546956141	chr16:12706051-12706052	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs570136123	chr16:12706061-12706062	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs533038825	chr16:12706062-12706063	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376024228	chr16:12706084-12706085	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs74973285	chr16:12706090-12706091	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs144478592	chr16:12706098-12706099	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs569826901	chr16:12706102-12706103	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535245957	chr16:12706103-12706104	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs192447774	chr16:12706106-12706107	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs568529463	chr16:12706114-12706115	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572598901	chr16:12706117-12706118	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534308829	chr16:12706139-12706140	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs541420049	chr16:12706141-12706142	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs184465361	chr16:12706142-12706143	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs145416114	chr16:12706145-12706146	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs577345399	chr16:12706147-12706148	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs149227719	chr16:12706159-12706160	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs377014899	chr16:12706173-12706174	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs556630907	chr16:12706174-12706175	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs576678815	chr16:12706176-12706177	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs564510085	chr16:12706193-12706194	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs540955653	chr16:12706195-12706196	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs9806998	chr16:12706197-12706198	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs115865481	chr16:12706200-12706201	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs540758474	chr16:12706207-12706208	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs143228204	chr16:12706214-12706215	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs532808541	chr16:12706225-12706226	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188865325	chr16:12706230-12706231	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs563395086	chr16:12706253-12706254	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs529202125	chr16:12706283-12706284	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs151261071	chr16:12706284-12706285	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs565908630	chr16:12706309-12706310	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs74011180	chr16:12706311-12706312	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547951818	chr16:12706312-12706313	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs573601947	chr16:12706326-12706327	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs570856855	chr16:12706335-12706336	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12703400-12706400	Enhancers	HepG2	liver
2	chr16:12703400-12706800	Enhancers	Liver	Liver
3	chr16:12703800-12706800	Enhancers	K562	blood
4	chr16:12703800-12708000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:12704000-12708800	Enhancers	Placenta	Placenta
6	chr16:12704200-12708400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:12704400-12707400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:12704400-12707400	Enhancers	Stomach Mucosa	stomach
9	chr16:12704600-12708200	Enhancers	NHEK	skin
10	chr16:12704800-12707200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr16:12704800-12709400	Enhancers	Fetal Intestine Large	intestine
12	chr16:12705000-12706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:12705000-12706400	Weak transcription	HMEC	breast
14	chr16:12705000-12707800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:12705000-12709000	Enhancers	Fetal Intestine Small	intestine
16	chr16:12705600-12706400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr16:12705600-12706800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:12705600-12707200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:12705800-12706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:12705800-12706200	Enhancers	A549	lung
21	chr16:12706000-12708800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:12706200-12707200	Enhancers	Duodenum Mucosa	Duodenum
23	chr16:12706200-12707200	Flanking Active TSS	A549	lung
24	chr16:12706200-12708000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:12706400-12706600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr16:12706400-12706800	Enhancers	Fetal Kidney	kidney
27	chr16:12706400-12707400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:12706400-12707400	Enhancers	Primary hematopoietic stem cells	blood
29	chr16:12706400-12708200	Enhancers	NH-A	brain
30	chr16:12706400-12708400	Flanking Active TSS	HepG2	liver
31	chr16:12706400-12708400	Enhancers	HMEC	breast
32	chr16:12706400-12709000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr16:12706400-12709000	Enhancers	Fetal Thymus	thymus
34	chr16:12706600-12707000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr16:12706600-12707600	Enhancers	Dnd41	blood
36	chr16:12706600-12708200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr16:12706600-12708200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr16:12706600-12708600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr16:12706600-12708600	Enhancers	Thymus	Thymus
40	chr16:12706600-12708600	Enhancers	GM12878-XiMat	blood
41	chr16:12706600-12708800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:12706800-12707200	Flanking Active TSS	Liver	Liver
43	chr16:12706800-12707600	Flanking Active TSS	K562	blood
44	chr16:12706800-12708800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr16:12707000-12708000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr16:12707000-12708400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr16:12707200-12707400	Enhancers	HSMM	muscle
48	chr16:12707200-12707600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:12707200-12707600	Active TSS	A549	lung
50	chr16:12707200-12707800	Flanking Active TSS	Duodenum Mucosa	Duodenum

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