Variant report

Variant	nsv1051014
Chromosome Location	chr16:12683657-12722792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:621)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	ARID3A	chr16:12704032-12704253	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:12684292-12684594	HepG2	liver:	n/a	n/a
5	ATF1	chr16:12706396-12706792	K562	blood:	n/a	n/a
6	ATF1	chr16:12707276-12707833	K562	blood:	n/a	n/a
7	ATF1	chr16:12704812-12705249	K562	blood:	n/a	n/a
8	ATF1	chr16:12692604-12692867	K562	blood:	n/a	n/a
9	ATF2	chr16:12706985-12707963	GM12878	blood:	n/a	n/a
10	ATF2	chr16:12711247-12711789	GM12878	blood:	n/a	n/a
11	ATF2	chr16:12711299-12711778	GM12878	blood:	n/a	n/a
12	ATF2	chr16:12707009-12707939	GM12878	blood:	n/a	n/a
13	ATF3	chr16:12707532-12707884	K562	blood:	n/a	n/a
14	ATF3	chr16:12707553-12707788	K562	blood:	n/a	n/a
15	ATF3	chr16:12707254-12707910	A549	lung:	n/a	n/a
16	ATF3	chr16:12707409-12708140	A549	lung:	n/a	n/a
17	BACH1	chr16:12707365-12707905	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr16:12707531-12707771	K562	blood:	n/a	n/a
19	BATF	chr16:12707513-12707826	GM12878	blood:	n/a	chr16:12707702-12707713
20	BATF	chr16:12707465-12707911	GM12878	blood:	n/a	chr16:12707702-12707713
21	BATF	chr16:12711387-12711724	GM12878	blood:	n/a	n/a
22	BCL11A	chr16:12707382-12707866	GM12878	blood:	n/a	n/a
23	BCL11A	chr16:12711403-12711675	GM12878	blood:	n/a	n/a
24	BCL11A	chr16:12707487-12707794	GM12878	blood:	n/a	n/a
25	BCL3	chr16:12707023-12707991	A549	lung:	n/a	n/a
26	BCL3	chr16:12707490-12707825	GM12878	blood:	n/a	n/a
27	BCL3	chr16:12707079-12708023	A549	lung:	n/a	n/a
28	BCL3	chr16:12711340-12711723	GM12878	blood:	n/a	n/a
29	BCL3	chr16:12707411-12707905	GM12878	blood:	n/a	n/a
30	BCLAF1	chr16:12707246-12707930	GM12878	blood:	n/a	n/a
31	BHLHE40	chr16:12707133-12707889	GM12878	blood:	n/a	n/a
32	BHLHE40	chr16:12706481-12706681	A549	lung:	n/a	n/a
33	BHLHE40	chr16:12706445-12706812	K562	blood:	n/a	n/a
34	BHLHE40	chr16:12707464-12707820	HepG2	liver:	n/a	n/a
35	BHLHE40	chr16:12707308-12708223	K562	blood:	n/a	n/a
36	BHLHE40	chr16:12704952-12705132	K562	blood:	n/a	n/a
37	BHLHE40	chr16:12707185-12708266	HepG2	liver:	n/a	n/a
38	BHLHE40	chr16:12707450-12707858	HepG2	liver:	n/a	n/a
39	BHLHE40	chr16:12706196-12706208	K562	blood:	n/a	n/a
40	BHLHE40	chr16:12706410-12706828	HepG2	liver:	n/a	n/a
41	BRCA1	chr16:12719080-12719097	HepG2	liver:	n/a	n/a
42	BRCA1	chr16:12707059-12708166	HepG2	liver:	n/a	n/a
43	CBX3	chr16:12707365-12707997	HCT-116	colon:	n/a	n/a
44	CBX3	chr16:12707283-12707852	K562	blood:	n/a	n/a
45	CBX3	chr16:12706342-12707174	K562	blood:	n/a	n/a
46	CCNT2	chr16:12707190-12707831	K562	blood:	n/a	n/a
47	CEBPB	chr16:12707507-12707915	K562	blood:	n/a	n/a
48	CEBPB	chr16:12684356-12684537	HepG2	liver:	n/a	n/a
49	CEBPB	chr16:12707325-12708166	HepG2	liver:	n/a	n/a
50	CEBPB	chr16:12707689-12707907	Hela-S3	cervix:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12711260..12713112-chr16:12746469..12749358,2	K562	blood:
2	chr16:12709815..12712137-chr16:12715749..12717929,2	K562	blood:
3	chr13:55145343..55147455-chr16:12696633..12698151,2	MCF-7	breast:
4	chr16:12712125..12713836-chr16:12719927..12722157,2	K562	blood:
5	chr16:12712125..12713836-chr16:12719927..12722157,2	K562	blood:
6	chr16:12675875..12678223-chr16:12683631..12685864,2	MCF-7	breast:
7	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
8	chr16:12714846..12717275-chr16:12723498..12725575,2	K562	blood:
9	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
10	chr16:12705693..12707355-chr16:12894687..12897390,2	K562	blood:
11	chr16:12705693..12708514-chr16:12893374..12897390,4	K562	blood:
12	chr16:12720009..12721877-chr16:12746194..12749157,2	K562	blood:
13	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
14	chr16:12667518..12668062-chr16:12712002..12712507,2	MCF-7	breast:
15	chr16:12695664..12697663-chr16:12702091..12704953,2	MCF-7	breast:
16	chr16:12709815..12712137-chr16:12715749..12717929,2	K562	blood:
17	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNX29-1	chr16:12719381-12719753	NONHSAT140627
2	lnc-CPPED1-2	chr16:12704595-12704901	ENSG00000259899.1

No data

Variant related genes	Relation type
ENSG00000259899	TF binding region
ENSG00000259899	chromatin interactions

Extended variants
information (count: 4034 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4034 , 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	rs11075109	chr16:12683657-12683658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191168585	chr16:12683668-12683669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11075110	chr16:12683674-12683675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544917116	chr16:12683681-12683682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75283893	chr16:12683696-12683697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12932671	chr16:12683725-12683726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569267698	chr16:12683734-12683735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560537806	chr16:12683746-12683747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148757158	chr16:12683747-12683748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374726841	chr16:12683755-12683756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71378366	chr16:12683769-12683770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11075111	chr16:12683770-12683771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12920160	chr16:12683775-12683776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142414603	chr16:12683794-12683795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568300774	chr16:12683797-12683798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370253887	chr16:12683815-12683816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533863579	chr16:12683817-12683818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574592892	chr16:12683823-12683824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370950757	chr16:12683833-12683834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547533658	chr16:12683837-12683838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184759291	chr16:12683838-12683839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539111486	chr16:12683842-12683843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559140610	chr16:12683843-12683844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187564219	chr16:12683845-12683846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147947070	chr16:12683854-12683855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192484859	chr16:12683858-12683859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539856462	chr16:12683861-12683862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202088003	chr16:12683865-12683866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540204216	chr16:12683873-12683874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540606144	chr16:12683910-12683911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560129571	chr16:12683916-12683917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185336119	chr16:12683930-12683931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577070623	chr16:12683949-12683950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545486456	chr16:12683964-12683965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562207075	chr16:12683968-12683969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531310224	chr16:12683979-12683980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548143806	chr16:12683982-12683983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561543445	chr16:12683994-12683995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145689860	chr16:12684005-12684006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11075112	chr16:12684006-12684007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546205995	chr16:12684012-12684013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570654318	chr16:12684022-12684023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533202413	chr16:12684029-12684030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563093681	chr16:12684033-12684034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75510079	chr16:12684043-12684044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548775034	chr16:12684046-12684047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569325507	chr16:12684047-12684048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537975051	chr16:12684048-12684049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11075113	chr16:12684049-12684050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568390465	chr16:12684080-12684081	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:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12681000-12686400	Enhancers	HepG2	liver
2	chr16:12683600-12685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:12683600-12685400	Enhancers	GM12878-XiMat	blood
4	chr16:12684600-12685600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr16:12684600-12686400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:12685000-12685600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr16:12685000-12685800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr16:12685000-12686000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:12685000-12686600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr16:12685200-12685600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:12685200-12685600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr16:12685200-12685800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr16:12685200-12685800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr16:12685200-12686000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr16:12685200-12686400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:12685200-12686600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr16:12685200-12686600	Enhancers	Fetal Thymus	thymus
18	chr16:12685400-12685600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr16:12685400-12686600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:12685600-12686000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr16:12685600-12686000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr16:12685600-12686000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr16:12685600-12686200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr16:12685600-12686400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:12685600-12686400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr16:12685600-12686400	Enhancers	Thymus	Thymus
27	chr16:12685600-12686600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:12685800-12686000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr16:12685800-12686000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr16:12685800-12686200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:12685800-12686400	Enhancers	Stomach Mucosa	stomach
32	chr16:12686000-12686200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr16:12686000-12686200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr16:12686000-12686200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr16:12686000-12686400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr16:12686000-12686600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr16:12686200-12686400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr16:12686200-12686400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr16:12686200-12686600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr16:12686200-12686600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr16:12686400-12686600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr16:12686400-12686600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr16:12686400-12688000	Weak transcription	HepG2	liver
44	chr16:12688200-12688400	Enhancers	HepG2	liver
45	chr16:12695400-12695600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:12696600-12697200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:12697800-12703800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:12703400-12706400	Enhancers	HepG2	liver
49	chr16:12703400-12706800	Enhancers	Liver	Liver
50	chr16:12703600-12704600	Enhancers	Cortex derived primary cultured neurospheres	brain

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