Variant report

Variant	nsv1064722
Chromosome Location	chr16:82541523-82605429
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	ATF1	chr16:82580644-82580703	K562	blood:	n/a	n/a
2	BHLHE40	chr16:82553427-82553436	K562	blood:	n/a	n/a
3	BHLHE40	chr16:82566846-82567077	HepG2	liver:	n/a	n/a
4	CEBPB	chr16:82585143-82585343	A549	lung:	n/a	chr16:82585223-82585234
5	CEBPB	chr16:82573452-82573663	A549	lung:	n/a	chr16:82573545-82573556
6	CEBPB	chr16:82542257-82542432	HepG2	liver:	n/a	chr16:82542337-82542348
7	CEBPB	chr16:82547906-82548214	IMR90	lung:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
8	CEBPB	chr16:82547901-82548207	A549	lung:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
9	CEBPB	chr16:82585151-82585323	H1-hESC	embryonic stem cell:	n/a	chr16:82585223-82585234
10	CEBPB	chr16:82585161-82585255	HepG2	liver:	n/a	chr16:82585223-82585234
11	CEBPB	chr16:82566825-82567067	HepG2	liver:	n/a	n/a
12	CEBPB	chr16:82573402-82573698	HepG2	liver:	n/a	chr16:82573545-82573556
13	CEBPB	chr16:82547908-82548186	K562	blood:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
14	CEBPB	chr16:82558640-82558882	HepG2	liver:	n/a	chr16:82558808-82558825 chr16:82558811-82558823 chr16:82558803-82558815
15	CEBPB	chr16:82547926-82548214	HepG2	liver:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
16	CEBPB	chr16:82585225-82585300	K562	blood:	n/a	n/a
17	CEBPB	chr16:82573454-82573660	IMR90	lung:	n/a	chr16:82573545-82573556
18	CHD2	chr16:82594603-82594610	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr16:82558680-82558830	HFF-Myc	foreskin:	n/a	n/a
20	CTCF	chr16:82572637-82572684	GM20000	blood:	n/a	n/a
21	CTCF	chr16:82551820-82551970	GM12872	blood:	n/a	n/a
22	CTCF	chr16:82594620-82594770	GM12869	blood:	n/a	n/a
23	E2F4	chr16:82560712-82560912	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr16:82594494-82594514	MCF10A-Er-Src	breast:	n/a	n/a
25	EBF1	chr16:82562536-82562697	GM12878	blood:	n/a	chr16:82562619-82562628 chr16:82562617-82562630 chr16:82562617-82562628
26	EP300	chr16:82558497-82558849	HepG2	liver:	n/a	n/a
27	EP300	chr16:82558535-82558928	HepG2	liver:	n/a	n/a
28	FOS	chr16:82543269-82543565	MCF10A-Er-Src	breast:	n/a	chr16:82543274-82543283
29	FOS	chr16:82543260-82543589	MCF10A-Er-Src	breast:	n/a	chr16:82543274-82543283
30	FOS	chr16:82568932-82569242	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr16:82557519-82557709	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr16:82543322-82543563	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr16:82568978-82569241	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr16:82544099-82544246	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr16:82568999-82569127	MCF10A-Er-Src	breast:	n/a	n/a
36	FOXA1	chr16:82558400-82558942	HepG2	liver:	n/a	n/a
37	FOXA1	chr16:82558517-82558904	HepG2	liver:	n/a	n/a
38	FOXA1	chr16:82566631-82567159	HepG2	liver:	n/a	n/a
39	FOXA1	chr16:82558560-82558930	HepG2	liver:	n/a	n/a
40	FOXA1	chr16:82566716-82567223	HepG2	liver:	n/a	n/a
41	FOXA1	chr16:82558368-82559047	HepG2	liver:	n/a	n/a
42	FOXA1	chr16:82566610-82567135	HepG2	liver:	n/a	n/a
43	FOXA1	chr16:82566694-82567155	HepG2	liver:	n/a	n/a
44	FOXA2	chr16:82566508-82567321	HepG2	liver:	n/a	n/a
45	FOXA2	chr16:82558186-82559079	HepG2	liver:	n/a	n/a
46	FOXA2	chr16:82566727-82567031	HepG2	liver:	n/a	n/a
47	FOXA2	chr16:82558566-82558892	HepG2	liver:	n/a	n/a
48	FOXA2	chr16:82558522-82558938	A549	lung:	n/a	n/a
49	FOXA2	chr16:82558602-82558922	A549	lung:	n/a	n/a
50	GABPA	chr16:82584958-82585087	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:82574338..82577020-chr16:82578614..82582099,3	K562	blood:
2	chr16:82562045..82564037-chr16:82564945..82567166,2	K562	blood:
3	chr16:82599175..82601894-chr16:82603395..82606236,2	K562	blood:
4	chr16:82565051..82565706-chr20:57214126..57214998,2	MCF-7	breast:
5	chr16:82574338..82577020-chr16:82578614..82582099,3	K562	blood:
6	chr11:24363950..24364495-chr16:82556810..82557446,2	MCF-7	breast:
7	chr16:82599175..82601894-chr16:82603395..82606236,2	K562	blood:
8	chr16:82562045..82564037-chr16:82564945..82567166,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPHOSPH6-1	chr16:82543994-82544149	ENSG00000261285.1
2	lnc-MPHOSPH6-1	chr16:82544324-82544501	ENSG00000261285.1
3	lnc-MPHOSPH6-1	chr16:82543713-82543912	ENSG00000261285.1
4	lnc-MPHOSPH6-1	chr16:82543994-82544149	ENSG00000261285.1
5	lnc-MPHOSPH6-1	chr16:82544324-82544524	ENSG00000261285.1
6	lnc-MPHOSPH6-2	chr16:82587654-82587853	ENSG00000261176.1
7	lnc-MPHOSPH6-2	chr16:82578752-82579064	XLOC_012025
8	lnc-MPHOSPH6-2	chr16:82587801-82587853	XLOC_012025

Variant related genes	Relation type
ENSG00000261285	TF binding region
CANX	miRNA target sites

Extended variants
information (count: 2475 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2475 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547799849	chr16:82541819-82541820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565835060	chr16:82541824-82541825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530040545	chr16:82541851-82541852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548087062	chr16:82541854-82541855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530926611	chr16:82541860-82541861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145253866	chr16:82541862-82541863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570560223	chr16:82541863-82541864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534300983	chr16:82541865-82541866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552979650	chr16:82541878-82541879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550649218	chr16:82541887-82541888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574359299	chr16:82541888-82541889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543298055	chr16:82541911-82541912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536232555	chr16:82541919-82541920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185861233	chr16:82541922-82541923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576676460	chr16:82541952-82541953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544066585	chr16:82541969-82541970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373347044	chr16:82542026-82542027	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187431254	chr16:82542033-82542034	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142385819	chr16:82542064-82542065	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs541060565	chr16:82542078-82542079	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs75084261	chr16:82542081-82542082	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559655484	chr16:82542083-82542084	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192751944	chr16:82542130-82542131	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548050165	chr16:82542144-82542145	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs563255336	chr16:82542154-82542155	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530602775	chr16:82542176-82542177	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552375261	chr16:82542188-82542189	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570449417	chr16:82542202-82542203	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs2317924	chr16:82542206-82542207	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs72828391	chr16:82542207-82542208	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568021739	chr16:82542209-82542210	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114943566	chr16:82542218-82542219	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs184059463	chr16:82542283-82542284	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs188602515	chr16:82542290-82542291	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374856460	chr16:82542299-82542300	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs8182119	chr16:82542309-82542310	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs144719604	chr16:82542325-82542326	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs577379161	chr16:82542334-82542335	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs79873286	chr16:82542349-82542350	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559611930	chr16:82542350-82542351	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs574455998	chr16:82542365-82542366	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs374686698	chr16:82542366-82542367	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs147888447	chr16:82542388-82542389	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs530760395	chr16:82542396-82542397	Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs552077205	chr16:82542430-82542431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564260786	chr16:82542431-82542432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16944474	chr16:82542447-82542448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141528861	chr16:82542453-82542454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368553101	chr16:82542460-82542461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370790626	chr16:82542466-82542467	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22549408	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82541800-82542000	Weak transcription	Brain Germinal Matrix	brain
2	chr16:82542000-82542400	ZNF genes & repeats	Brain Substantia Nigra	brain
3	chr16:82542000-82543000	Enhancers	Brain Germinal Matrix	brain
4	chr16:82542200-82542400	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr16:82542200-82543200	Enhancers	Brain Anterior Caudate	brain
6	chr16:82542200-82543200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr16:82542200-82544400	Enhancers	Fetal Brain Male	brain
8	chr16:82542400-82543000	Enhancers	Brain Hippocampus Middle	brain
9	chr16:82542400-82543400	Enhancers	NH-A	brain
10	chr16:82542400-82544000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:82542400-82544200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:82542400-82544200	Enhancers	Fetal Brain Female	brain
13	chr16:82542400-82545000	Enhancers	Brain Cingulate Gyrus	brain
14	chr16:82542400-82545000	Enhancers	Brain Substantia Nigra	brain
15	chr16:82542400-82545200	Enhancers	Brain Angular Gyrus	brain
16	chr16:82542600-82544000	Enhancers	HSMM	muscle
17	chr16:82543000-82543400	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr16:82543000-82543800	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr16:82543200-82543400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr16:82543200-82543600	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr16:82543200-82543600	Enhancers	HSMMtube	muscle
22	chr16:82543400-82543800	Active TSS	Brain Hippocampus Middle	brain
23	chr16:82543400-82543800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr16:82543600-82544800	Enhancers	Brain Anterior Caudate	brain
25	chr16:82543600-82548200	Weak transcription	HSMMtube	muscle
26	chr16:82543800-82544400	Enhancers	Brain Germinal Matrix	brain
27	chr16:82543800-82545000	Enhancers	Brain Hippocampus Middle	brain
28	chr16:82543800-82545000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr16:82544400-82550000	Weak transcription	Brain Germinal Matrix	brain
30	chr16:82545600-82546600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:82548200-82548600	Enhancers	HSMMtube	muscle
32	chr16:82548600-82549800	Weak transcription	HSMMtube	muscle
33	chr16:82549000-82549200	Enhancers	HSMM	muscle
34	chr16:82549000-82550600	Enhancers	Fetal Muscle Leg	muscle
35	chr16:82549200-82549800	Weak transcription	HSMM	muscle
36	chr16:82549800-82550600	Enhancers	HSMM	muscle
37	chr16:82549800-82550600	Enhancers	HSMMtube	muscle
38	chr16:82550000-82550400	Enhancers	Brain Germinal Matrix	brain
39	chr16:82550000-82550400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr16:82550000-82550400	Enhancers	Placenta	Placenta
41	chr16:82550400-82555600	Weak transcription	Brain Germinal Matrix	brain
42	chr16:82550600-82552400	Weak transcription	HSMMtube	muscle
43	chr16:82552200-82552800	Enhancers	Fetal Brain Female	brain
44	chr16:82552400-82553200	Enhancers	HSMMtube	muscle
45	chr16:82552800-82556800	Weak transcription	Fetal Brain Female	brain
46	chr16:82554600-82556600	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr16:82554800-82555200	Bivalent Enhancer	HSMMtube	muscle
48	chr16:82555000-82556200	Bivalent Enhancer	Fetal Stomach	stomach
49	chr16:82555000-82556400	Enhancers	Fetal Brain Male	brain
50	chr16:82555600-82556800	Enhancers	Brain Germinal Matrix	brain

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