Variant report

Variant	nsv520999
Chromosome Location	chr16:76271568-76277895
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	MAFF	chr16:76277560-76277872	K562	blood:	n/a	chr16:76277705-76277723 chr16:76277711-76277725
4	MAFF	chr16:76277534-76277901	HepG2	liver:	n/a	chr16:76277705-76277723 chr16:76277711-76277725
5	MAFK	chr16:76277558-76277873	Hela-S3	cervix:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
6	MAFK	chr16:76277532-76277897	IMR90	lung:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
7	MAFK	chr16:76277532-76277889	HepG2	liver:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
8	MAFK	chr16:76277548-76277862	K562	blood:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
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	chr16:76277530-76277901	HepG2	liver:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
11	MYC	chr16:76271594-76271642	MCF-7	breast:	n/a	n/a
12	POLR2A	chr16:76272068-76272152	MCF-7	breast:	n/a	n/a
13	POLR2A	chr16:76276569-76276620	MCF10A-Er-Src	breast:	n/a	n/a
14	RAD21	chr16:76275846-76276034	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr16:76275754-76276105	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr16:76275824-76276073	H1-hESC	embryonic stem cell:	n/a	n/a
17	RFX5	chr16:76273685-76273721	GM12878	blood:	n/a	n/a
18	RXRA	chr16:76274785-76274969	HepG2	liver:	n/a	n/a
19	YY1	chr16:76271462-76271669	GM12878	blood:	n/a	chr16:76271564-76271586 chr16:76271574-76271586
20	YY1	chr16:76271429-76271728	H1-hESC	embryonic stem cell:	n/a	chr16:76271564-76271586 chr16:76271574-76271586

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:76272351-76272401	K562	blood:	n/a
2	chr16:76272351-76272401	U87	brain:	n/a
3	chr16:76272351-76272401	T-47D	breast:	n/a
4	chr16:76272351-76272401	AG09319	gingival:	n/a
5	chr16:76272351-76272401	GM19239	blood:	n/a
6	chr16:76272351-76272401	Hela-S3	cervix:	n/a
7	chr16:76272351-76272401	AG04450	lung:	fetal
8	chr16:76272351-76272401	GM12878	blood:	n/a
9	chr16:76272351-76272401	GM12892	blood:	n/a
10	chr16:76272351-76272401	HCM	heart:	n/a
11	chr16:76272351-76272401	HMEC	breast:	n/a
12	chr16:76272351-76272401	HCPEpiC	choroid plexus:	n/a
13	chr16:76272351-76272401	MCF-7	breast:	n/a
14	chr16:76272351-76272401	LNCaP	prostate:	n/a
15	chr16:76272351-76272401	IMR90	lung:	fetal
16	chr16:76272351-76272401	HCT-116	colon:	n/a
17	chr16:76272351-76272401	AG04449	skin:	fetal
18	chr16:76272351-76272401	Caco-2	colon:	n/a
19	chr16:76272351-76272401	HCF	heart:	n/a
20	chr16:76272351-76272401	CMK	blood:	n/a
21	chr16:76272351-76272401	HRPEpiC	eye:	n/a
22	chr16:76272351-76272401	GM12891	blood:	n/a
23	chr16:76272351-76272401	SK-N-SH_RA	brain:	n/a
24	chr16:76272351-76272401	RPTEC	kidney:	n/a
25	chr16:76272351-76272401	Hepatocyte	liver:	n/a
26	chr16:76272351-76272401	NB4	blood:	n/a
27	chr16:76272351-76272401	HEK293	kidney:	embryo
28	chr16:76272351-76272401	HL-60	blood:	n/a
29	chr16:76272351-76272401	MCF10A-Er-Src	breast:	n/a
30	chr16:76272351-76272401	HEEpiC	esophagus:	n/a
31	chr16:76272351-76272401	SK-N-SH	brain:	n/a
32	chr16:76272351-76272401	PrEC	prostate:	n/a
33	chr16:76272351-76272401	SAEC	small airway:	n/a
34	chr16:76272351-76272401	AoSMC	blood vessel:	n/a
35	chr16:76272351-76272401	NH-A	brain:	n/a
36	chr16:76272351-76272401	HIPEpiC	eye:	n/a
37	chr16:76272351-76272401	NT2-D1	testis:	n/a
38	chr16:76272351-76272401	HRCEpiC	kidney:	n/a
39	chr16:76272351-76272401	PFSK-1	brain:	n/a
40	chr16:76272351-76272401	H1-hESC	embryonic stem cell:	embryo
41	chr16:76272351-76272401	SKMC	muscle:	n/a
42	chr16:76272351-76272401	AG10803	skin:	n/a
43	chr16:76272351-76272401	PANC-1	pancreas:	n/a
44	chr16:76272351-76272401	HAEpiC	amniotic membrane:	n/a
45	chr16:76272351-76272401	NHBE	bronchial:	n/a
46	chr16:76272351-76272401	HUVEC	blood vessel:	n/a
47	chr16:76272351-76272401	A549	lung:	n/a
48	chr16:76272351-76272401	NHDF-neo	bronchial:	n/a
49	chr16:76272351-76272401	HepG2	liver:	n/a
50	chr16:76272351-76272401	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:76272213..76274617-chr16:76275881..76278722,3	MCF-7	breast:
2	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: 65 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7186960	chr16:76271568-76271569	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561277418	chr16:76271569-76271570	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs373024941	chr16:76271575-76271576	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs529156780	chr16:76271592-76271593	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs150799308	chr16:76271638-76271639	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs182731643	chr16:76271657-76271658	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs557163817	chr16:76271666-76271667	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs7187843	chr16:76271700-76271701	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551165538	chr16:76271703-76271704	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs35281793	chr16:76271724-76271725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs16944046	chr16:76271790-76271791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536760531	chr16:76271805-76271806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7187506	chr16:76271827-76271828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs16944054	chr16:76271920-76271921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79977797	chr16:76271930-76271931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553292681	chr16:76271995-76271996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16944056	chr16:76271996-76271997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs144106034	chr16:76272082-76272083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs35624555	chr16:76272084-76272085	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs55943362	chr16:76272088-76272089	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187782677	chr16:76272118-76272119	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs542929491	chr16:76272142-76272143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs559715097	chr16:76272152-76272153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs149005660	chr16:76272352-76272353	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs545034188	chr16:76272366-76272367	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs558523892	chr16:76273697-76273698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs72794930	chr16:76273713-76273714	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs555418566	chr16:76274601-76274602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149247841	chr16:76274620-76274621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562303613	chr16:76274634-76274635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541755725	chr16:76274636-76274637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560971250	chr16:76274649-76274650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144582788	chr16:76274673-76274674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543487487	chr16:76274674-76274675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563411632	chr16:76274681-76274682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531505911	chr16:76274735-76274736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371081254	chr16:76274750-76274751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188599527	chr16:76274757-76274758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548921946	chr16:76274768-76274769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566070665	chr16:76274771-76274772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371652396	chr16:76274787-76274788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547340289	chr16:76275409-76275410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535535516	chr16:76275419-76275420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116344056	chr16:76275439-76275440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12596723	chr16:76275447-76275448	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs146011048	chr16:76275448-76275449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536336348	chr16:76275466-76275467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78579137	chr16:76275481-76275482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549994905	chr16:76275493-76275494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187048086	chr16:76275533-76275534	Enhancers	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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