Variant report

Variant	nsv1061999
Chromosome Location	chr16:76270228-76281186
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	CEBPB	chr16:76276619-76276914	HepG2	liver:	n/a	chr16:76276751-76276762
2	E2F4	chr16:76276713-76276959	MCF10A-Er-Src	breast:	n/a	n/a
3	JUN	chr16:76278777-76279058	HepG2	liver:	n/a	chr16:76278894-76278907 chr16:76278895-76278904
4	JUND	chr16:76278802-76279074	HepG2	liver:	n/a	chr16:76278895-76278904
5	MAFF	chr16:76280641-76280735	K562	blood:	n/a	chr16:76280670-76280688
6	MAFF	chr16:76280510-76280831	HepG2	liver:	n/a	chr16:76280670-76280688
7	MAFF	chr16:76277534-76277901	HepG2	liver:	n/a	chr16:76277705-76277723 chr16:76277711-76277725
8	MAFF	chr16:76277560-76277872	K562	blood:	n/a	chr16:76277705-76277723 chr16:76277711-76277725
9	MAFK	chr16:76277549-76278089	H1-hESC	embryonic stem cell:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
10	MAFK	chr16:76280538-76280833	IMR90	lung:	n/a	chr16:76280671-76280686
11	MAFK	chr16:76280566-76280786	K562	blood:	n/a	chr16:76280671-76280686
12	MAFK	chr16:76277532-76277889	HepG2	liver:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
13	MAFK	chr16:76277558-76277873	Hela-S3	cervix:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
14	MAFK	chr16:76280510-76280850	HepG2	liver:	n/a	chr16:76280671-76280686
15	MAFK	chr16:76277532-76277897	IMR90	lung:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
16	MAFK	chr16:76280506-76280836	HepG2	liver:	n/a	chr16:76280671-76280686
17	MAFK	chr16:76277530-76277901	HepG2	liver:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
18	MAFK	chr16:76277548-76277862	K562	blood:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
19	MYC	chr16:76271594-76271642	MCF-7	breast:	n/a	n/a
20	POLR2A	chr16:76276569-76276620	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr16:76280422-76280531	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr16:76272068-76272152	MCF-7	breast:	n/a	n/a
23	POLR2A	chr16:76278609-76278686	MCF10A-Er-Src	breast:	n/a	n/a
24	RAD21	chr16:76275846-76276034	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr16:76275754-76276105	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr16:76275824-76276073	H1-hESC	embryonic stem cell:	n/a	n/a
27	RFX5	chr16:76273685-76273721	GM12878	blood:	n/a	n/a
28	RXRA	chr16:76274785-76274969	HepG2	liver:	n/a	n/a
29	STAT3	chr16:76279931-76280110	MCF10A-Er-Src	breast:	n/a	chr16:76280008-76280016
30	YY1	chr16:76271429-76271728	H1-hESC	embryonic stem cell:	n/a	chr16:76271564-76271586 chr16:76271574-76271586
31	YY1	chr16:76271462-76271669	GM12878	blood:	n/a	chr16:76271564-76271586 chr16:76271574-76271586

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:76272351-76272401	NHBE	bronchial:	n/a
2	chr16:76272351-76272401	U87	brain:	n/a
3	chr16:76272351-76272401	SK-N-MC	brain:	n/a
4	chr16:76272351-76272401	PrEC	prostate:	n/a
5	chr16:76272351-76272401	H1-hESC	embryonic stem cell:	embryo
6	chr16:76272351-76272401	AG04449	skin:	fetal
7	chr16:76272351-76272401	MCF-7	breast:	n/a
8	chr16:76272351-76272401	NHDF-neo	bronchial:	n/a
9	chr16:76272351-76272401	HNPCEpiC	eye:	n/a
10	chr16:76272351-76272401	A549	lung:	n/a
11	chr16:76272351-76272401	HCM	heart:	n/a
12	chr16:76272351-76272401	Caco-2	colon:	n/a
13	chr16:76272351-76272401	HPAEpiC	pulmonary alveolar:	n/a
14	chr16:76272351-76272401	ECC-1	luminal epithelium:	n/a
15	chr16:76272351-76272401	T-47D	breast:	n/a
16	chr16:76272351-76272401	LNCaP	prostate:	n/a
17	chr16:76272351-76272401	HEK293	kidney:	embryo
18	chr16:76272351-76272401	AoSMC	blood vessel:	n/a
19	chr16:76272351-76272401	AG09319	gingival:	n/a
20	chr16:76272351-76272401	HepG2	liver:	n/a
21	chr16:76272351-76272401	GM12878	blood:	n/a
22	chr16:76272351-76272401	Jurkat	blood:	n/a
23	chr16:76272351-76272401	RPTEC	kidney:	n/a
24	chr16:76272351-76272401	GM12892	blood:	n/a
25	chr16:76272351-76272401	BE2_C	brain:	n/a
26	chr16:76272351-76272401	SK-N-SH	brain:	n/a
27	chr16:76272351-76272401	HCPEpiC	choroid plexus:	n/a
28	chr16:76272351-76272401	HRPEpiC	eye:	n/a
29	chr16:76272351-76272401	HRCEpiC	kidney:	n/a
30	chr16:76272351-76272401	Hela-S3	cervix:	n/a
31	chr16:76272351-76272401	K562	blood:	n/a
32	chr16:76272351-76272401	SAEC	small airway:	n/a
33	chr16:76272351-76272401	HAEpiC	amniotic membrane:	n/a
34	chr16:76272351-76272401	CMK	blood:	n/a
35	chr16:76272351-76272401	GM19239	blood:	n/a
36	chr16:76272351-76272401	HCT-116	colon:	n/a
37	chr16:76272351-76272401	IMR90	lung:	fetal
38	chr16:76272351-76272401	HEEpiC	esophagus:	n/a
39	chr16:76272351-76272401	AG09309	skin:	n/a
40	chr16:76272351-76272401	SKMC	muscle:	n/a
41	chr16:76272351-76272401	ProgFib	skin:	n/a
42	chr16:76272351-76272401	MCF10A-Er-Src	breast:	n/a
43	chr16:76272351-76272401	BJ	skin:	n/a
44	chr16:76272351-76272401	SK-N-SH_RA	brain:	n/a
45	chr16:76272351-76272401	HMEC	breast:	n/a
46	chr16:76272351-76272401	ovcar-3	ovarian:	n/a
47	chr16:76272351-76272401	HCF	heart:	n/a
48	chr16:76272351-76272401	AG04450	lung:	fetal
49	chr16:76272351-76272401	HRE	kidney:	n/a
50	chr16:76272351-76272401	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:76267035..76268706-chr16:76269783..76271539,2	K562	blood:
2	chr16:76272213..76274617-chr16:76275881..76278722,3	MCF-7	breast:
3	chr16:76272213..76274617-chr16:76275881..76278722,3	MCF-7	breast:

Variant related genes	Relation type
RPL18P13	TF binding region
RPL18P13	CpG island

Extended variants
information (count: 120 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578159112	chr16:76270244-76270245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544100606	chr16:76270245-76270246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542884789	chr16:76270287-76270288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370527278	chr16:76270353-76270354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34647530	chr16:76270363-76270364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201942646	chr16:76270364-76270365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542694614	chr16:76270466-76270467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138027110	chr16:76270473-76270474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528584362	chr16:76270545-76270546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143390186	chr16:76270551-76270552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544670068	chr16:76270613-76270614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71394256	chr16:76270626-76270627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182954047	chr16:76270651-76270652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74024950	chr16:76270690-76270691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs80200733	chr16:76270760-76270761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565040036	chr16:76270770-76270771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115789250	chr16:76270772-76270773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186115605	chr16:76270793-76270794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535676107	chr16:76270803-76270804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555624357	chr16:76270812-76270813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62052050	chr16:76270813-76270814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534719108	chr16:76270833-76270834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557423426	chr16:76270839-76270840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116543247	chr16:76270859-76270860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543750708	chr16:76270896-76270897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7202690	chr16:76270939-76270940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368632482	chr16:76270978-76270979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116237186	chr16:76270986-76270987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539717070	chr16:76270990-76270991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373628376	chr16:76270996-76270997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117501224	chr16:76271050-76271051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559535090	chr16:76271068-76271069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75736952	chr16:76271107-76271108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545485384	chr16:76271116-76271117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565131338	chr16:76271152-76271153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147147253	chr16:76271171-76271172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549786691	chr16:76271185-76271186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192065649	chr16:76271186-76271187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7204502	chr16:76271187-76271188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550118120	chr16:76271235-76271236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115299132	chr16:76271288-76271289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565887336	chr16:76271293-76271294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16944036	chr16:76271317-76271318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551497382	chr16:76271323-76271324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571142761	chr16:76271359-76271360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs16944039	chr16:76271371-76271372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs115173060	chr16:76271377-76271378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573959325	chr16:76271414-76271415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74024952	chr16:76271415-76271416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553102926	chr16:76271422-76271423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	21364760	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
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76269400-76272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:76274600-76274800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:76275400-76275800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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