Variant report

Variant	nsv526384
Chromosome Location	chr16:77263717-77268935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:77265076-77265272	K562	blood:	n/a	n/a
2	ARID3A	chr16:77265478-77265545	K562	blood:	n/a	n/a
3	ATF1	chr16:77264998-77265300	K562	blood:	n/a	n/a
4	ATF3	chr16:77264959-77265251	K562	blood:	n/a	n/a
5	BHLHE40	chr16:77265078-77265672	K562	blood:	n/a	n/a
6	BRCA1	chr16:77268531-77268857	H1-hESC	embryonic stem cell:	n/a	n/a
7	CCNT2	chr16:77264930-77265244	K562	blood:	n/a	chr16:77265082-77265102
8	CEBPB	chr16:77264916-77265353	K562	blood:	n/a	n/a
9	CEBPB	chr16:77265018-77265213	K562	blood:	n/a	n/a
10	CEBPB	chr16:77265413-77265651	HepG2	liver:	n/a	chr16:77265561-77265572 chr16:77265561-77265574 chr16:77265465-77265478 chr16:77265495-77265508
11	CEBPB	chr16:77265032-77265604	K562	blood:	n/a	chr16:77265561-77265572 chr16:77265561-77265574 chr16:77265465-77265478 chr16:77265495-77265508
12	CEBPD	chr16:77264886-77265279	K562	blood:	n/a	n/a
13	CHD2	chr16:77268484-77268839	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr16:77268568-77268688	K562	blood:	n/a	n/a
15	CTCF	chr16:77268771-77268884	GM10266	blood:	n/a	n/a
16	CTCF	chr16:77264234-77264307	Kidney_OC	kidney:	n/a	n/a
17	EP300	chr16:77264882-77265567	K562	blood:	n/a	chr16:77265493-77265507 chr16:77265179-77265193 chr16:77265067-77265077
18	FOS	chr16:77265436-77265610	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr16:77265477-77265620	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA1	chr16:77264720-77265665	K562	blood:	n/a	chr16:77265085-77265102
21	GATA2	chr16:77264972-77265269	K562	blood:	n/a	chr16:77265085-77265102
22	HCFC1	chr16:77265019-77265111	K562	blood:	n/a	n/a
23	JUND	chr16:77264902-77265332	K562	blood:	n/a	chr16:77265016-77265023
24	MAX	chr16:77268548-77268836	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAZ	chr16:77264995-77265218	K562	blood:	n/a	chr16:77265181-77265190
26	MYC	chr16:77264916-77265265	K562	blood:	n/a	chr16:77265181-77265190
27	MYC	chr16:77268719-77268842	K562	blood:	n/a	n/a
28	MYC	chr16:77265528-77265612	K562	blood:	n/a	chr16:77265564-77265573
29	NR2F2	chr16:77264870-77265347	K562	blood:	n/a	n/a
30	PML	chr16:77264887-77265294	K562	blood:	n/a	n/a
31	POLR2A	chr16:77267926-77268073	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr16:77268670-77268793	Gliobla	brain:	n/a	n/a
33	POLR2A	chr16:77268619-77268831	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr16:77268680-77268712	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr16:77268549-77269019	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr16:77268560-77268879	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr16:77268734-77268787	H1-hESC	embryonic stem cell:	n/a	n/a
38	RCOR1	chr16:77267856-77267999	K562	blood:	n/a	n/a
39	RCOR1	chr16:77264775-77265644	K562	blood:	n/a	n/a
40	RCOR1	chr16:77265050-77265191	K562	blood:	n/a	n/a
41	REST	chr16:77264277-77264348	GM12878	blood:	n/a	n/a
42	STAT3	chr16:77268084-77268357	MCF10A-Er-Src	breast:	n/a	chr16:77268216-77268227
43	STAT3	chr16:77265356-77265577	MCF10A-Er-Src	breast:	n/a	chr16:77265436-77265447
44	STAT3	chr16:77268075-77268359	MCF10A-Er-Src	breast:	n/a	chr16:77268216-77268227
45	STAT3	chr16:77268081-77268359	MCF10A-Er-Src	breast:	n/a	chr16:77268216-77268227
46	STAT3	chr16:77268043-77268389	MCF10A-Er-Src	breast:	n/a	chr16:77268216-77268227
47	STAT5A	chr16:77264844-77265320	K562	blood:	n/a	n/a
48	TAF1	chr16:77268632-77268776	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAL1	chr16:77264920-77265262	K562	blood:	n/a	chr16:77265084-77265102
50	TBL1XR1	chr16:77264956-77265266	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000260922	TF binding region

Extended variants
information (count: 255 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17769245	chr16:77263717-77263718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs67411170	chr16:77263725-77263726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531002524	chr16:77263751-77263752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542592582	chr16:77263754-77263755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201273541	chr16:77263804-77263805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs68097506	chr16:77263818-77263819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs57031104	chr16:77263830-77263831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75984096	chr16:77263901-77263902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112307838	chr16:77263953-77263954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74582186	chr16:77263954-77263955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546393897	chr16:77263979-77263980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558365605	chr16:77263992-77263993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184013055	chr16:77263994-77263995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564506821	chr16:77264077-77264078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2113280	chr16:77264078-77264079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9788831	chr16:77264088-77264089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs574804805	chr16:77264121-77264122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377404712	chr16:77264136-77264137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189095765	chr16:77264143-77264144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553363770	chr16:77264144-77264145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573130909	chr16:77264172-77264173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370496457	chr16:77264205-77264206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9788825	chr16:77264217-77264218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs550564488	chr16:77264263-77264264	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs530867797	chr16:77264299-77264300	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs544426625	chr16:77264311-77264312	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs12931673	chr16:77264383-77264384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560799733	chr16:77264384-77264385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193048222	chr16:77264390-77264391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146786414	chr16:77264428-77264429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546955658	chr16:77264436-77264437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148972364	chr16:77264472-77264473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143092324	chr16:77264475-77264476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552160493	chr16:77264486-77264487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375925927	chr16:77264493-77264494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185604221	chr16:77264506-77264507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55676433	chr16:77264509-77264510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529861562	chr16:77264522-77264523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548419721	chr16:77264536-77264537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190763645	chr16:77264582-77264583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182001152	chr16:77264647-77264648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12149296	chr16:77264653-77264654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577030150	chr16:77264664-77264665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538660475	chr16:77264678-77264679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558503479	chr16:77264687-77264688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148228432	chr16:77264697-77264698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544285171	chr16:77264698-77264699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183790454	chr16:77264701-77264702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141196366	chr16:77264743-77264744	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs540961911	chr16:77264763-77264764	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77257600-77268000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr16:77259200-77269800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:77261400-77270200	Weak transcription	A549	lung
4	chr16:77262400-77271200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:77268000-77268200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr16:77268000-77269200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr16:77268200-77268600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr16:77268200-77269200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr16:77268200-77269800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr16:77268200-77270200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr16:77268400-77268800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:77268400-77269200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr16:77268400-77269200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr16:77268600-77268800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:77268600-77268800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:77268600-77268800	Enhancers	HUVEC	blood vessel
17	chr16:77268600-77269000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr16:77268800-77269000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
19	chr16:77268800-77269000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr16:77268800-77269000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:77268800-77269800	Weak transcription	HUVEC	blood vessel
22	chr16:77268800-77270000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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