Variant report

Variant	nsv573000
Chromosome Location	chr16:76140126-76188325
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	chr16:76157853-76158224	H1-hESC	embryonic stem cell:	n/a	chr16:76158029-76158040
2	CEBPB	chr16:76157843-76158213	Hela-S3	cervix:	n/a	chr16:76158029-76158040
3	CEBPB	chr16:76172099-76172368	MCF-7	breast:	n/a	n/a
4	CEBPB	chr16:76157892-76158146	HepG2	liver:	n/a	chr16:76158029-76158040
5	CEBPB	chr16:76157854-76158207	IMR90	lung:	n/a	chr16:76158029-76158040
6	CEBPB	chr16:76157859-76158197	A549	lung:	n/a	chr16:76158029-76158040
7	CEBPB	chr16:76148545-76148883	HepG2	liver:	n/a	chr16:76148705-76148716
8	CEBPB	chr16:76157851-76158221	HepG2	liver:	n/a	chr16:76158029-76158040
9	CEBPB	chr16:76159866-76160102	MCF-7	breast:	n/a	chr16:76159936-76159949
10	CEBPB	chr16:76148114-76148326	HepG2	liver:	n/a	chr16:76148205-76148216
11	CEBPB	chr16:76148587-76148863	IMR90	lung:	n/a	chr16:76148705-76148716
12	CEBPB	chr16:76157831-76158205	MCF-7	breast:	n/a	chr16:76158029-76158040
13	CEBPB	chr16:76148575-76148856	A549	lung:	n/a	chr16:76148705-76148716
14	CEBPB	chr16:76157877-76158203	MCF-7	breast:	n/a	chr16:76158029-76158040
15	CEBPB	chr16:76157884-76158214	K562	blood:	n/a	chr16:76158029-76158040
16	CTCF	chr16:76142316-76142440	HepG2	liver:	n/a	n/a
17	CTCF	chr16:76142280-76142430	GM12874	blood:	n/a	n/a
18	CTCF	chr16:76142241-76142431	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr16:76155160-76155310	Caco-2	colon:	n/a	n/a
20	CTCF	chr16:76142280-76142430	MCF-7	breast:	n/a	n/a
21	CTCF	chr16:76151543-76151606	GM13976	blood:	n/a	n/a
22	CTCF	chr16:76142302-76142407	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr16:76142260-76142410	Caco-2	colon:	n/a	n/a
24	CTCF	chr16:76142280-76142430	HEK293	kidney:	n/a	n/a
25	CTCF	chr16:76142220-76142370	GM12865	blood:	n/a	n/a
26	CTCF	chr16:76142217-76142439	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr16:76174386-76174441	GM20000	blood:	n/a	n/a
28	CTCF	chr16:76140725-76140799	MCF-7	breast:	n/a	n/a
29	CTCF	chr16:76142273-76142419	HepG2	liver:	n/a	n/a
30	CTCF	chr16:76140721-76140724	MCF-7	breast:	n/a	n/a
31	CTCF	chr16:76152458-76152502	MCF-7	breast:	n/a	n/a
32	CTCF	chr16:76142240-76142390	HepG2	liver:	n/a	n/a
33	CTCF	chr16:76140580-76140730	GM12870	blood:	n/a	n/a
34	E2F4	chr16:76159770-76160191	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr16:76147254-76147427	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr16:76179258-76179432	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr16:76153720-76153920	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr16:76150107-76150266	K562	blood:	n/a	n/a
39	FOS	chr16:76157904-76158161	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr16:76166363-76166615	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr16:76177179-76177465	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr16:76148848-76148859	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr16:76159736-76160149	MCF10A-Er-Src	breast:	n/a	chr16:76159955-76159966 chr16:76159959-76159967
44	FOS	chr16:76177159-76177471	MCF10A-Er-Src	breast:	n/a	chr16:76177458-76177470
45	FOS	chr16:76157869-76158119	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr16:76157904-76158181	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr16:76159750-76160389	MCF10A-Er-Src	breast:	n/a	chr16:76159955-76159966 chr16:76159959-76159967 chr16:76160363-76160373
48	FOS	chr16:76157924-76158187	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr16:76166398-76166537	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr16:76159756-76160398	MCF10A-Er-Src	breast:	n/a	chr16:76159955-76159966 chr16:76159959-76159967 chr16:76160363-76160373

No.	Distal block	Cell Line	Cell type
1	chr16:76165281..76167806-chr16:76168616..76171411,2	K562	blood:
2	chr16:76167106..76169562-chr16:76172402..76175397,2	MCF-7	breast:
3	chr16:76170732..76173663-chr16:76174703..76177407,2	MCF-7	breast:
4	chr16:76152673..76155052-chr16:76163507..76166139,2	K562	blood:
5	chr16:76170732..76173663-chr16:76174703..76177407,2	MCF-7	breast:
6	chr16:76150031..76151626-chr16:76156509..76159199,2	MCF-7	breast:
7	chr16:76165281..76167806-chr16:76168616..76171411,2	K562	blood:
8	chr16:76150031..76151626-chr16:76156509..76159199,2	MCF-7	breast:
9	chr16:76167106..76169562-chr16:76172402..76175397,2	MCF-7	breast:
10	chr16:76152673..76155052-chr16:76163507..76166139,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC025287.1-2	chr16:76181458-76181704	ENSG00000260223.1
2	lnc-AC025287.1-2	chr16:76170020-76170263	ENSG00000260223.1
3	lnc-AC025287.1-2	chr16:76141181-76141401	ENSG00000260223.1
4	lnc-AC025287.1-2	chr16:76169537-76169877	NONHSAT143772
5	lnc-AC025287.1-2	chr16:76181458-76181677	ENSG00000260223.1
6	lnc-AC025287.1-2	chr16:76181453-76181621	NONHSAT143772
7	lnc-AC025287.1-2	chr16:76174260-76174301	ENSG00000260223.1
8	lnc-AC025287.1-2	chr16:76169538-76169877	XLOC_012013
9	lnc-AC025287.1-2	chr16:76142134-76142240	ENSG00000260223.1
10	lnc-AC025287.1-2	chr16:76181454-76181621	XLOC_012013

Variant related genes	Relation type
ENSG00000260223	TF binding region

Extended variants
information (count: 1713 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1713 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2432608	chr16:76140126-76140127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538385102	chr16:76140134-76140135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554521507	chr16:76140142-76140143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116204855	chr16:76140149-76140150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540307212	chr16:76140172-76140173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183810692	chr16:76140204-76140205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74863593	chr16:76140218-76140219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551456544	chr16:76140256-76140257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572945498	chr16:76140363-76140364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560421196	chr16:76140382-76140383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571222894	chr16:76140392-76140393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150080973	chr16:76140435-76140436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527505476	chr16:76140454-76140455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547218838	chr16:76140456-76140457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35151973	chr16:76140488-76140489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2432416	chr16:76140497-76140498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs373651275	chr16:76140503-76140504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550721386	chr16:76140540-76140541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560848679	chr16:76140541-76140542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113987244	chr16:76140571-76140572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529728075	chr16:76140572-76140573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2432607	chr16:76140577-76140578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567063359	chr16:76140584-76140585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556038345	chr16:76140592-76140593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552496548	chr16:76140610-76140611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114129742	chr16:76140653-76140654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112859872	chr16:76140661-76140662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188925122	chr16:76140662-76140663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114780843	chr16:76140673-76140674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574465983	chr16:76140686-76140687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12917862	chr16:76140692-76140693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138392090	chr16:76140702-76140703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573043140	chr16:76140733-76140734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377449505	chr16:76140784-76140785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147193406	chr16:76141185-76141186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs2278056	chr16:76141193-76141194	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs115311872	chr16:76141204-76141205	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs140785484	chr16:76141240-76141241	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs531751262	chr16:76141282-76141283	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs548363720	chr16:76141328-76141329	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs2278055	chr16:76141342-76141343	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs527758523	chr16:76141344-76141345	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs369233594	chr16:76141371-76141372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs547904669	chr16:76141382-76141383	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs539203820	chr16:76142134-76142135	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs531344700	chr16:76142137-76142138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs146854920	chr16:76142138-76142139	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs544653750	chr16:76142139-76142140	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs140870611	chr16:76142140-76142141	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs189043262	chr16:76142144-76142145	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76138000-76140600	Weak transcription	Gastric	stomach
2	chr16:76140600-76140800	Enhancers	Gastric	stomach
3	chr16:76142200-76143000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:76149000-76149200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:76149000-76149600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:76149600-76155400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:76155400-76155600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:76157200-76158200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:76157400-76158200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:76158000-76158200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:76158200-76181400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:76159800-76160200	Enhancers	HMEC	breast
13	chr16:76171400-76172000	Enhancers	Placenta	Placenta
14	chr16:76174000-76176200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:76174200-76174600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr16:76174200-76175400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr16:76174400-76175800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:76175000-76175800	Enhancers	Brain Hippocampus Middle	brain
19	chr16:76175200-76175600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr16:76175200-76175800	Enhancers	Brain Substantia Nigra	brain
21	chr16:76176600-76176800	Enhancers	Brain Angular Gyrus	brain
22	chr16:76179400-76179600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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