Variant report

Variant	esv2757629
Chromosome Location	chr16:12676745-12712199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:612)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:612 , 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	chr16:12682648-12682749	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:12707160-12707764	K562	blood:	n/a	n/a
3	ARID3A	chr16:12684292-12684594	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:12706308-12708260	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:12704032-12704253	HepG2	liver:	n/a	n/a
6	ATF1	chr16:12706396-12706792	K562	blood:	n/a	n/a
7	ATF1	chr16:12692604-12692867	K562	blood:	n/a	n/a
8	ATF1	chr16:12704812-12705249	K562	blood:	n/a	n/a
9	ATF1	chr16:12678409-12678811	K562	blood:	n/a	n/a
10	ATF1	chr16:12707276-12707833	K562	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	ATF2	chr16:12706985-12707963	GM12878	blood:	n/a	n/a
14	ATF2	chr16:12711247-12711789	GM12878	blood:	n/a	n/a
15	ATF3	chr16:12707254-12707910	A549	lung:	n/a	n/a
16	ATF3	chr16:12707553-12707788	K562	blood:	n/a	n/a
17	ATF3	chr16:12707532-12707884	K562	blood:	n/a	n/a
18	ATF3	chr16:12707409-12708140	A549	lung:	n/a	n/a
19	BACH1	chr16:12707365-12707905	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr16:12707531-12707771	K562	blood:	n/a	n/a
21	BATF	chr16:12707513-12707826	GM12878	blood:	n/a	chr16:12707702-12707713
22	BATF	chr16:12711387-12711724	GM12878	blood:	n/a	n/a
23	BATF	chr16:12707465-12707911	GM12878	blood:	n/a	chr16:12707702-12707713
24	BCL11A	chr16:12707382-12707866	GM12878	blood:	n/a	n/a
25	BCL11A	chr16:12711403-12711675	GM12878	blood:	n/a	n/a
26	BCL11A	chr16:12707487-12707794	GM12878	blood:	n/a	n/a
27	BCL3	chr16:12711340-12711723	GM12878	blood:	n/a	n/a
28	BCL3	chr16:12707079-12708023	A549	lung:	n/a	n/a
29	BCL3	chr16:12707490-12707825	GM12878	blood:	n/a	n/a
30	BCL3	chr16:12707411-12707905	GM12878	blood:	n/a	n/a
31	BCL3	chr16:12707023-12707991	A549	lung:	n/a	n/a
32	BCLAF1	chr16:12707246-12707930	GM12878	blood:	n/a	n/a
33	BHLHE40	chr16:12706196-12706208	K562	blood:	n/a	n/a
34	BHLHE40	chr16:12706410-12706828	HepG2	liver:	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	chr16:12707464-12707820	HepG2	liver:	n/a	n/a
38	BHLHE40	chr16:12704952-12705132	K562	blood:	n/a	n/a
39	BHLHE40	chr16:12707185-12708266	HepG2	liver:	n/a	n/a
40	BHLHE40	chr16:12678441-12678725	HepG2	liver:	n/a	n/a
41	BHLHE40	chr16:12707308-12708223	K562	blood:	n/a	n/a
42	BHLHE40	chr16:12706481-12706681	A549	lung:	n/a	n/a
43	BHLHE40	chr16:12707133-12707889	GM12878	blood:	n/a	n/a
44	BRCA1	chr16:12707059-12708166	HepG2	liver:	n/a	n/a
45	CBX3	chr16:12707365-12707997	HCT-116	colon:	n/a	n/a
46	CBX3	chr16:12706342-12707174	K562	blood:	n/a	n/a
47	CBX3	chr16:12707283-12707852	K562	blood:	n/a	n/a
48	CCNT2	chr16:12707190-12707831	K562	blood:	n/a	n/a
49	CEBPB	chr16:12679577-12679777	K562	blood:	n/a	chr16:12679690-12679701
50	CEBPB	chr16:12681701-12681908	HepG2	liver:	n/a	chr16:12681708-12681719

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12707551..12710268-chr16:12710403..12713580,3	K562	blood:
2	chr16:12675875..12678223-chr16:12683631..12685864,2	MCF-7	breast:
3	chr16:12695664..12697663-chr16:12702091..12704953,2	MCF-7	breast:
4	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
5	chr16:12667518..12668062-chr16:12712002..12712507,2	MCF-7	breast:
6	chr16:12675875..12678223-chr16:12683631..12685864,2	MCF-7	breast:
7	chr16:12711260..12713112-chr16:12746469..12749358,2	K562	blood:
8	chr16:12707551..12710268-chr16:12710403..12713580,3	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	chr16:12712125..12713836-chr16:12719927..12722157,2	K562	blood:
13	chr16:12709815..12712137-chr16:12715749..12717929,2	K562	blood:
14	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: 3674 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3674 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs881102	chr16:12676745-12676746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555707394	chr16:12676746-12676747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12924070	chr16:12676779-12676780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530139823	chr16:12676783-12676784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541679701	chr16:12676786-12676787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73514076	chr16:12676822-12676823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572199051	chr16:12676835-12676836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182635728	chr16:12676850-12676851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560618652	chr16:12676878-12676879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367627863	chr16:12676891-12676892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532616462	chr16:12676904-12676905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375590178	chr16:12676912-12676913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140879675	chr16:12676915-12676916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11647434	chr16:12676922-12676923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376608315	chr16:12676925-12676926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369838583	chr16:12676950-12676951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562292645	chr16:12676953-12676954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12929040	chr16:12676979-12676980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs890903	chr16:12676983-12676984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545834698	chr16:12676991-12676992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570727897	chr16:12676996-12676997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539121651	chr16:12677004-12677005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187191302	chr16:12677006-12677007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552476763	chr16:12677013-12677014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369008194	chr16:12677028-12677029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143217607	chr16:12677029-12677030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535148479	chr16:12677033-12677034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368829774	chr16:12677050-12677051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527533150	chr16:12677058-12677059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78790004	chr16:12677061-12677062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191213955	chr16:12677066-12677067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183334578	chr16:12677081-12677082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117496605	chr16:12677083-12677084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13334126	chr16:12677093-12677094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546280340	chr16:12677094-12677095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563012595	chr16:12677095-12677096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576502513	chr16:12677096-12677097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541887292	chr16:12677097-12677098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562393252	chr16:12677098-12677099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527947755	chr16:12677099-12677100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548093861	chr16:12677100-12677101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570439287	chr16:12677103-12677104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555900401	chr16:12677105-12677106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533387680	chr16:12677107-12677108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74011104	chr16:12677112-12677113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150897986	chr16:12677125-12677126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139419810	chr16:12677126-12677127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565691372	chr16:12677129-12677130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372698850	chr16:12677130-12677131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187626335	chr16:12677134-12677135	Weak transcription	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:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12671000-12678400	Weak transcription	Gastric	stomach
2	chr16:12671200-12677600	Weak transcription	HepG2	liver
3	chr16:12674600-12677600	Weak transcription	Stomach Mucosa	stomach
4	chr16:12677600-12679000	Enhancers	Stomach Mucosa	stomach
5	chr16:12677600-12679800	Enhancers	HepG2	liver
6	chr16:12678000-12679000	Enhancers	K562	blood
7	chr16:12678400-12678600	Enhancers	Gastric	stomach
8	chr16:12678400-12678800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr16:12678400-12678800	Enhancers	Brain Hippocampus Middle	brain
10	chr16:12678400-12678800	Enhancers	Brain Substantia Nigra	brain
11	chr16:12678400-12679400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:12679000-12680200	Weak transcription	Stomach Mucosa	stomach
13	chr16:12679800-12680400	Enhancers	Fetal Brain Male	brain
14	chr16:12679800-12681000	Weak transcription	HepG2	liver
15	chr16:12680200-12680400	Enhancers	Stomach Mucosa	stomach
16	chr16:12681000-12681800	Enhancers	Brain Anterior Caudate	brain
17	chr16:12681000-12686400	Enhancers	HepG2	liver
18	chr16:12683400-12683600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr16:12683600-12685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:12683600-12685400	Enhancers	GM12878-XiMat	blood
21	chr16:12684600-12685600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr16:12684600-12686400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:12685000-12685600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr16:12685000-12685800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr16:12685000-12686000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:12685000-12686600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr16:12685200-12685600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr16:12685200-12685600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr16:12685200-12685800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr16:12685200-12685800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr16:12685200-12686000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr16:12685200-12686400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:12685200-12686600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr16:12685200-12686600	Enhancers	Fetal Thymus	thymus
35	chr16:12685400-12685600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr16:12685400-12686600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:12685600-12686000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr16:12685600-12686000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr16:12685600-12686000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr16:12685600-12686200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr16:12685600-12686400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr16:12685600-12686400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr16:12685600-12686400	Enhancers	Thymus	Thymus
44	chr16:12685600-12686600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:12685800-12686000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr16:12685800-12686000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr16:12685800-12686200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:12685800-12686400	Enhancers	Stomach Mucosa	stomach
49	chr16:12686000-12686200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr16:12686000-12686200	Enhancers	HUES64 Cell Line	embryonic stem cell

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