Variant report

Variant	nsv571469
Chromosome Location	chr16:12670401-12715480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:701)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:12706308-12708260	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:12684292-12684594	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:12704032-12704253	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:12682648-12682749	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:12707160-12707764	K562	blood:	n/a	n/a
6	ATF1	chr16:12692604-12692867	K562	blood:	n/a	n/a
7	ATF1	chr16:12707276-12707833	K562	blood:	n/a	n/a
8	ATF1	chr16:12706396-12706792	K562	blood:	n/a	n/a
9	ATF1	chr16:12678409-12678811	K562	blood:	n/a	n/a
10	ATF1	chr16:12704812-12705249	K562	blood:	n/a	n/a
11	ATF2	chr16:12707009-12707939	GM12878	blood:	n/a	n/a
12	ATF2	chr16:12706985-12707963	GM12878	blood:	n/a	n/a
13	ATF2	chr16:12711247-12711789	GM12878	blood:	n/a	n/a
14	ATF2	chr16:12711299-12711778	GM12878	blood:	n/a	n/a
15	ATF3	chr16:12707409-12708140	A549	lung:	n/a	n/a
16	ATF3	chr16:12707532-12707884	K562	blood:	n/a	n/a
17	ATF3	chr16:12707254-12707910	A549	lung:	n/a	n/a
18	ATF3	chr16:12707553-12707788	K562	blood:	n/a	n/a
19	BACH1	chr16:12707531-12707771	K562	blood:	n/a	n/a
20	BACH1	chr16:12707365-12707905	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr16:12707465-12707911	GM12878	blood:	n/a	chr16:12707702-12707713
22	BATF	chr16:12707513-12707826	GM12878	blood:	n/a	chr16:12707702-12707713
23	BATF	chr16:12711387-12711724	GM12878	blood:	n/a	n/a
24	BCL11A	chr16:12707382-12707866	GM12878	blood:	n/a	n/a
25	BCL11A	chr16:12707487-12707794	GM12878	blood:	n/a	n/a
26	BCL11A	chr16:12711403-12711675	GM12878	blood:	n/a	n/a
27	BCL3	chr16:12707079-12708023	A549	lung:	n/a	n/a
28	BCL3	chr16:12707023-12707991	A549	lung:	n/a	n/a
29	BCL3	chr16:12711340-12711723	GM12878	blood:	n/a	n/a
30	BCL3	chr16:12707490-12707825	GM12878	blood:	n/a	n/a
31	BCL3	chr16:12707411-12707905	GM12878	blood:	n/a	n/a
32	BCL3	chr16:12674715-12674922	GM12878	blood:	n/a	chr16:12674840-12674849
33	BCLAF1	chr16:12707246-12707930	GM12878	blood:	n/a	n/a
34	BHLHE40	chr16:12706445-12706812	K562	blood:	n/a	n/a
35	BHLHE40	chr16:12674662-12674994	GM12878	blood:	n/a	n/a
36	BHLHE40	chr16:12706410-12706828	HepG2	liver:	n/a	n/a
37	BHLHE40	chr16:12706196-12706208	K562	blood:	n/a	n/a
38	BHLHE40	chr16:12707464-12707820	HepG2	liver:	n/a	n/a
39	BHLHE40	chr16:12706481-12706681	A549	lung:	n/a	n/a
40	BHLHE40	chr16:12678441-12678725	HepG2	liver:	n/a	n/a
41	BHLHE40	chr16:12704952-12705132	K562	blood:	n/a	n/a
42	BHLHE40	chr16:12707185-12708266	HepG2	liver:	n/a	n/a
43	BHLHE40	chr16:12707450-12707858	HepG2	liver:	n/a	n/a
44	BHLHE40	chr16:12707133-12707889	GM12878	blood:	n/a	n/a
45	BHLHE40	chr16:12707308-12708223	K562	blood:	n/a	n/a
46	BRCA1	chr16:12707059-12708166	HepG2	liver:	n/a	n/a
47	CBX3	chr16:12707365-12707997	HCT-116	colon:	n/a	n/a
48	CBX3	chr16:12706342-12707174	K562	blood:	n/a	n/a
49	CBX3	chr16:12707283-12707852	K562	blood:	n/a	n/a
50	CCNT2	chr16:12707190-12707831	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:12664367..12666728-chr16:12670658..12673027,2	K562	blood:
2	chr16:12695664..12697663-chr16:12702091..12704953,2	MCF-7	breast:
3	chr16:12711260..12713112-chr16:12746469..12749358,2	K562	blood:
4	chr16:12712125..12713836-chr16:12719927..12722157,2	K562	blood:
5	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
6	chr16:12667518..12668062-chr16:12712002..12712507,2	MCF-7	breast:
7	chr16:12709815..12712137-chr16:12715749..12717929,2	K562	blood:
8	chr16:12675875..12678223-chr16:12683631..12685864,2	MCF-7	breast:
9	chr16:12705693..12707355-chr16:12894687..12897390,2	K562	blood:
10	chr16:12714846..12717275-chr16:12723498..12725575,2	K562	blood:
11	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
12	chr16:12675875..12678223-chr16:12683631..12685864,2	MCF-7	breast:
13	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
14	chr16:12705693..12708514-chr16:12893374..12897390,4	K562	blood:
15	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
16	chr13:55145343..55147455-chr16:12696633..12698151,2	MCF-7	breast:

(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
ENSG00000259899	chromatin interactions

Extended variants
information (count: 4970 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4970 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11644221	chr16:12670401-12670402	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565771340	chr16:12670452-12670453	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139792334	chr16:12670461-12670462	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190706091	chr16:12670465-12670466	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145555425	chr16:12670477-12670478	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539834706	chr16:12670479-12670480	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556642392	chr16:12670487-12670488	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9937634	chr16:12670495-12670496	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148889758	chr16:12670507-12670508	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147008105	chr16:12670519-12670520	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11643162	chr16:12670532-12670533	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs117551250	chr16:12670537-12670538	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557389328	chr16:12670543-12670544	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184130876	chr16:12670555-12670556	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377514159	chr16:12670557-12670558	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147643363	chr16:12670566-12670567	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4780456	chr16:12670573-12670574	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535208745	chr16:12670574-12670575	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529135758	chr16:12670579-12670580	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538150330	chr16:12670583-12670584	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4780457	chr16:12670588-12670589	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs188642793	chr16:12670614-12670615	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568657482	chr16:12670615-12670616	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76037460	chr16:12670619-12670620	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570955324	chr16:12670620-12670621	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141912035	chr16:12670622-12670623	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145788028	chr16:12670623-12670624	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74013043	chr16:12670634-12670635	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192198358	chr16:12670652-12670653	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555739500	chr16:12670665-12670666	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566371158	chr16:12670689-12670690	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534894862	chr16:12670706-12670707	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557574840	chr16:12670710-12670711	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148210420	chr16:12670716-12670717	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34147303	chr16:12670718-12670719	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs75512896	chr16:12670726-12670727	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553862150	chr16:12670735-12670736	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576761043	chr16:12670739-12670740	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556653616	chr16:12670744-12670745	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs118026146	chr16:12670765-12670766	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141195380	chr16:12670771-12670772	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182868674	chr16:12670784-12670785	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187503498	chr16:12670785-12670786	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150330913	chr16:12670792-12670793	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530402752	chr16:12670801-12670802	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs138889997	chr16:12670810-12670811	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530744787	chr16:12670815-12670816	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548573419	chr16:12670817-12670818	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs4780458	chr16:12670833-12670834	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201617031	chr16:12670881-12670882	Weak transcription Enhancers ZNF genes & repeats	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:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
3	chr16:12662800-12672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:12664000-12670600	Weak transcription	Gastric	stomach
5	chr16:12664600-12670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr16:12665000-12670600	Weak transcription	Spleen	Spleen
7	chr16:12668000-12670600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:12668400-12672400	Weak transcription	Fetal Intestine Small	intestine
9	chr16:12668600-12671000	Weak transcription	HepG2	liver
10	chr16:12668600-12672200	Enhancers	Primary B cells from peripheral blood	blood
11	chr16:12669400-12673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:12670200-12672000	Enhancers	Primary B cells from cord blood	blood
13	chr16:12670400-12670800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr16:12670400-12670800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr16:12670400-12670800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:12670400-12670800	Enhancers	GM12878-XiMat	blood
17	chr16:12670600-12671000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:12670600-12671000	Enhancers	Gastric	stomach
19	chr16:12670600-12671000	Enhancers	Spleen	Spleen
20	chr16:12670800-12671000	ZNF genes & repeats	Pancreas	Pancrea
21	chr16:12670800-12674400	Weak transcription	GM12878-XiMat	blood
22	chr16:12671000-12671200	Enhancers	HepG2	liver
23	chr16:12671000-12671400	Weak transcription	Spleen	Spleen
24	chr16:12671000-12678400	Weak transcription	Gastric	stomach
25	chr16:12671200-12672000	Enhancers	Fetal Brain Male	brain
26	chr16:12671200-12677600	Weak transcription	HepG2	liver
27	chr16:12672000-12672400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:12672200-12674400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr16:12672400-12674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:12674400-12674600	Enhancers	Stomach Mucosa	stomach
31	chr16:12674400-12675400	Enhancers	GM12878-XiMat	blood
32	chr16:12674400-12675600	Enhancers	Primary B cells from peripheral blood	blood
33	chr16:12674600-12674800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:12674600-12677600	Weak transcription	Stomach Mucosa	stomach
35	chr16:12677600-12679000	Enhancers	Stomach Mucosa	stomach
36	chr16:12677600-12679800	Enhancers	HepG2	liver
37	chr16:12678000-12679000	Enhancers	K562	blood
38	chr16:12678400-12678600	Enhancers	Gastric	stomach
39	chr16:12678400-12678800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr16:12678400-12678800	Enhancers	Brain Hippocampus Middle	brain
41	chr16:12678400-12678800	Enhancers	Brain Substantia Nigra	brain
42	chr16:12678400-12679400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:12679000-12680200	Weak transcription	Stomach Mucosa	stomach
44	chr16:12679800-12680400	Enhancers	Fetal Brain Male	brain
45	chr16:12679800-12681000	Weak transcription	HepG2	liver
46	chr16:12680200-12680400	Enhancers	Stomach Mucosa	stomach
47	chr16:12681000-12681800	Enhancers	Brain Anterior Caudate	brain
48	chr16:12681000-12686400	Enhancers	HepG2	liver
49	chr16:12683400-12683600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr16:12683600-12685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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