Variant report

Variant	nsv905351
Chromosome Location	chr16:12697211-12721188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:574)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	chr16:12707160-12707764	K562	blood:	n/a	n/a
3	ARID3A	chr16:12706308-12708260	HepG2	liver:	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	chr16:12711299-12711778	GM12878	blood:	n/a	n/a
8	ATF2	chr16:12707009-12707939	GM12878	blood:	n/a	n/a
9	ATF2	chr16:12711247-12711789	GM12878	blood:	n/a	n/a
10	ATF2	chr16:12706985-12707963	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	chr16:12707409-12708140	A549	lung:	n/a	n/a
14	ATF3	chr16:12707254-12707910	A549	lung:	n/a	n/a
15	BACH1	chr16:12707365-12707905	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr16:12707531-12707771	K562	blood:	n/a	n/a
17	BATF	chr16:12711387-12711724	GM12878	blood:	n/a	n/a
18	BATF	chr16:12707513-12707826	GM12878	blood:	n/a	chr16:12707702-12707713
19	BATF	chr16:12707465-12707911	GM12878	blood:	n/a	chr16:12707702-12707713
20	BCL11A	chr16:12707487-12707794	GM12878	blood:	n/a	n/a
21	BCL11A	chr16:12707382-12707866	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	chr16:12707411-12707905	GM12878	blood:	n/a	n/a
25	BCL3	chr16:12707490-12707825	GM12878	blood:	n/a	n/a
26	BCL3	chr16:12707079-12708023	A549	lung:	n/a	n/a
27	BCL3	chr16:12707023-12707991	A549	lung:	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	chr16:12707464-12707820	HepG2	liver:	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	chr16:12704952-12705132	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	chr16:12707450-12707858	HepG2	liver:	n/a	n/a
37	BHLHE40	chr16:12706196-12706208	K562	blood:	n/a	n/a
38	BHLHE40	chr16:12706410-12706828	HepG2	liver:	n/a	n/a
39	BRCA1	chr16:12719080-12719097	HepG2	liver:	n/a	n/a
40	BRCA1	chr16:12707059-12708166	HepG2	liver:	n/a	n/a
41	CBX3	chr16:12706342-12707174	K562	blood:	n/a	n/a
42	CBX3	chr16:12707283-12707852	K562	blood:	n/a	n/a
43	CBX3	chr16:12707365-12707997	HCT-116	colon:	n/a	n/a
44	CCNT2	chr16:12707190-12707831	K562	blood:	n/a	n/a
45	CEBPB	chr16:12707689-12707907	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr16:12707448-12708041	A549	lung:	n/a	n/a
47	CEBPB	chr16:12703999-12704306	HepG2	liver:	n/a	n/a
48	CEBPB	chr16:12706987-12707884	GM12878	blood:	n/a	n/a
49	CEBPB	chr16:12707347-12708054	HCT-116	colon:	n/a	n/a
50	CEBPB	chr16:12711148-12711874	GM12878	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12712125..12713836-chr16:12719927..12722157,2	K562	blood:
2	chr16:12709815..12712137-chr16:12715749..12717929,2	K562	blood:
3	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
4	chr16:12720009..12721877-chr16:12746194..12749157,2	K562	blood:
5	chr16:12667518..12668062-chr16:12712002..12712507,2	MCF-7	breast:
6	chr16:12695664..12697663-chr16:12702091..12704953,2	MCF-7	breast:
7	chr16:12709815..12712137-chr16:12715749..12717929,2	K562	blood:
8	chr16:12705693..12708514-chr16:12893374..12897390,4	K562	blood:
9	chr13:55145343..55147455-chr16:12696633..12698151,2	MCF-7	breast:
10	chr16:12705693..12707355-chr16:12894687..12897390,2	K562	blood:
11	chr16:12711260..12713112-chr16:12746469..12749358,2	K562	blood:
12	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
13	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
14	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
15	chr16:12714846..12717275-chr16:12723498..12725575,2	K562	blood:
16	chr16:12712125..12713836-chr16:12719927..12722157,2	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: 2982 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2982 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8063664	chr16:12697211-12697212	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534296553	chr16:12697212-12697213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74011168	chr16:12697226-12697227	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs8063669	chr16:12697236-12697237	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185183246	chr16:12697247-12697248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549579193	chr16:12697254-12697255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549361514	chr16:12697261-12697262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111403447	chr16:12697263-12697264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs8058688	chr16:12697279-12697280	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs74011169	chr16:12697280-12697281	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577187674	chr16:12697289-12697290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548283104	chr16:12697300-12697301	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189602816	chr16:12697307-12697308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556821364	chr16:12697322-12697323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573892192	chr16:12697323-12697324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542803404	chr16:12697340-12697341	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552853751	chr16:12697347-12697348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568490597	chr16:12697353-12697354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367741662	chr16:12697360-12697361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533945331	chr16:12697370-12697371	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79433061	chr16:12697377-12697378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541510257	chr16:12697380-12697381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565558356	chr16:12697382-12697383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564598976	chr16:12697389-12697390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75685134	chr16:12697393-12697394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116380874	chr16:12697404-12697405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564007939	chr16:12697406-12697407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74406321	chr16:12697408-12697409	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372387283	chr16:12697422-12697423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201720280	chr16:12697425-12697426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200932147	chr16:12697428-12697429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs397856049	chr16:12697429-12697430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140647534	chr16:12697436-12697437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528703548	chr16:12697437-12697438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551037234	chr16:12697443-12697444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571044049	chr16:12697454-12697455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536640331	chr16:12697458-12697459	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556585215	chr16:12697469-12697470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567255922	chr16:12697478-12697479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76084353	chr16:12697485-12697486	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs28503501	chr16:12697490-12697491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144387428	chr16:12697503-12697504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146615787	chr16:12697531-12697532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558276681	chr16:12697544-12697545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs578179569	chr16:12697546-12697547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543938746	chr16:12697561-12697562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563495629	chr16:12697574-12697575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540011854	chr16:12697577-12697578	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556824242	chr16:12697587-12697588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79610563	chr16:12697590-12697591	Inactive region	Chromatin interactive 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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12697800-12703800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:12703400-12706400	Enhancers	HepG2	liver
3	chr16:12703400-12706800	Enhancers	Liver	Liver
4	chr16:12703600-12704600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr16:12703800-12704600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:12703800-12706800	Enhancers	K562	blood
7	chr16:12703800-12708000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:12704000-12704200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:12704000-12704400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:12704000-12704400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:12704000-12708800	Enhancers	Placenta	Placenta
12	chr16:12704200-12708400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:12704400-12705600	Enhancers	A549	lung
14	chr16:12704400-12707400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:12704400-12707400	Enhancers	Stomach Mucosa	stomach
16	chr16:12704600-12705000	Enhancers	HMEC	breast
17	chr16:12704600-12708200	Enhancers	NHEK	skin
18	chr16:12704800-12705000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr16:12704800-12705000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:12704800-12705000	Enhancers	Esophagus	oesophagus
21	chr16:12704800-12705800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:12704800-12707200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr16:12704800-12709400	Enhancers	Fetal Intestine Large	intestine
24	chr16:12705000-12705200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr16:12705000-12705600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr16:12705000-12706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:12705000-12706400	Weak transcription	HMEC	breast
28	chr16:12705000-12707800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr16:12705000-12709000	Enhancers	Fetal Intestine Small	intestine
30	chr16:12705400-12705600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr16:12705600-12705800	Flanking Active TSS	A549	lung
32	chr16:12705600-12706400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr16:12705600-12706800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:12705600-12707200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:12705800-12706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:12705800-12706200	Enhancers	A549	lung
37	chr16:12706000-12708800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr16:12706200-12707200	Enhancers	Duodenum Mucosa	Duodenum
39	chr16:12706200-12707200	Flanking Active TSS	A549	lung
40	chr16:12706200-12708000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:12706400-12706600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr16:12706400-12706800	Enhancers	Fetal Kidney	kidney
43	chr16:12706400-12707400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr16:12706400-12707400	Enhancers	Primary hematopoietic stem cells	blood
45	chr16:12706400-12708200	Enhancers	NH-A	brain
46	chr16:12706400-12708400	Flanking Active TSS	HepG2	liver
47	chr16:12706400-12708400	Enhancers	HMEC	breast
48	chr16:12706400-12709000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr16:12706400-12709000	Enhancers	Fetal Thymus	thymus
50	chr16:12706600-12707000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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