Variant report

Variant	nsv1058058
Chromosome Location	chr16:82533703-82638218
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	chr16:82617128-82617280	K562	blood:	n/a	n/a
2	ATF1	chr16:82580644-82580703	K562	blood:	n/a	n/a
3	BHLHE40	chr16:82553427-82553436	K562	blood:	n/a	n/a
4	BHLHE40	chr16:82566846-82567077	HepG2	liver:	n/a	n/a
5	BRCA1	chr16:82632622-82632764	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr16:82542257-82542432	HepG2	liver:	n/a	chr16:82542337-82542348
7	CEBPB	chr16:82573402-82573698	HepG2	liver:	n/a	chr16:82573545-82573556
8	CEBPB	chr16:82632539-82632620	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr16:82566825-82567067	HepG2	liver:	n/a	n/a
10	CEBPB	chr16:82585225-82585300	K562	blood:	n/a	n/a
11	CEBPB	chr16:82537553-82537671	A549	lung:	n/a	n/a
12	CEBPB	chr16:82633241-82633352	IMR90	lung:	n/a	n/a
13	CEBPB	chr16:82620893-82621258	MCF-7	breast:	n/a	chr16:82621034-82621045 chr16:82621033-82621044 chr16:82621033-82621046
14	CEBPB	chr16:82558640-82558882	HepG2	liver:	n/a	chr16:82558808-82558825 chr16:82558811-82558823 chr16:82558803-82558815
15	CEBPB	chr16:82637217-82637753	IMR90	lung:	n/a	chr16:82637344-82637355
16	CEBPB	chr16:82547906-82548214	IMR90	lung:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
17	CEBPB	chr16:82547926-82548214	HepG2	liver:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
18	CEBPB	chr16:82585161-82585255	HepG2	liver:	n/a	chr16:82585223-82585234
19	CEBPB	chr16:82538545-82538774	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr16:82637341-82637427	HepG2	liver:	n/a	chr16:82637344-82637355
21	CEBPB	chr16:82538508-82538805	HepG2	liver:	n/a	n/a
22	CEBPB	chr16:82585143-82585343	A549	lung:	n/a	chr16:82585223-82585234
23	CEBPB	chr16:82547908-82548186	K562	blood:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
24	CEBPB	chr16:82619321-82619598	IMR90	lung:	n/a	n/a
25	CEBPB	chr16:82617613-82617615	IMR90	lung:	n/a	n/a
26	CEBPB	chr16:82547901-82548207	A549	lung:	n/a	chr16:82548075-82548088 chr16:82548075-82548088 chr16:82548075-82548086
27	CEBPB	chr16:82573454-82573660	IMR90	lung:	n/a	chr16:82573545-82573556
28	CEBPB	chr16:82538552-82538661	A549	lung:	n/a	n/a
29	CEBPB	chr16:82620970-82621184	HepG2	liver:	n/a	chr16:82621034-82621045 chr16:82621033-82621044 chr16:82621033-82621046
30	CEBPB	chr16:82585151-82585323	H1-hESC	embryonic stem cell:	n/a	chr16:82585223-82585234
31	CEBPB	chr16:82538521-82538753	IMR90	lung:	n/a	n/a
32	CEBPB	chr16:82573452-82573663	A549	lung:	n/a	chr16:82573545-82573556
33	CEBPZ	chr16:82534590-82534615	HepG2	liver:	n/a	n/a
34	CHD2	chr16:82594603-82594610	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr16:82614060-82614210	GM12866	blood:	n/a	chr16:82614083-82614096 chr16:82614076-82614097 chr16:82614081-82614099
36	CTCF	chr16:82558680-82558830	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr16:82614000-82614150	HPAF	blood vessel:	n/a	chr16:82614083-82614096 chr16:82614076-82614097 chr16:82614081-82614099
38	CTCF	chr16:82613946-82614165	A549	lung:	n/a	chr16:82614083-82614096 chr16:82614076-82614097 chr16:82614081-82614099
39	CTCF	chr16:82614100-82614250	NHEK	skin:	n/a	n/a
40	CTCF	chr16:82614000-82614150	GM12864	blood:	n/a	chr16:82614083-82614096 chr16:82614076-82614097 chr16:82614081-82614099
41	CTCF	chr16:82614060-82614210	Caco-2	colon:	n/a	chr16:82614083-82614096 chr16:82614076-82614097 chr16:82614081-82614099
42	CTCF	chr16:82614040-82614190	GM12875	blood:	n/a	chr16:82614083-82614096 chr16:82614076-82614097 chr16:82614081-82614099
43	CTCF	chr16:82614080-82614230	GM12872	blood:	n/a	chr16:82614083-82614096 chr16:82614081-82614099
44	CTCF	chr16:82637419-82637703	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr16:82614300-82614450	HMEC	breast:	n/a	n/a
46	CTCF	chr16:82637468-82637689	A549	lung:	n/a	n/a
47	CTCF	chr16:82613999-82614179	Medullo	brain:	n/a	chr16:82614083-82614096 chr16:82614076-82614097 chr16:82614081-82614099
48	CTCF	chr16:82637500-82637650	HFF	foreskin:	n/a	n/a
49	CTCF	chr16:82637460-82637610	WI-38	lung:	n/a	n/a
50	CTCF	chr16:82637460-82637696	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:82401188..82401863-chr16:82612795..82614499,6	MCF-7	breast:
2	chr16:82377904..82378425-chr16:82613543..82614481,2	MCF-7	breast:
3	chr16:82599175..82601894-chr16:82603395..82606236,2	K562	blood:
4	chr16:82574338..82577020-chr16:82578614..82582099,3	K562	blood:
5	chr16:82636950..82637593-chr16:83480515..83481066,2	MCF-7	breast:
6	chr16:82565051..82565706-chr20:57214126..57214998,2	MCF-7	breast:
7	chr16:82626049..82628346-chr16:82628444..82630812,2	K562	blood:
8	chr16:82296862..82297823-chr16:82613624..82614666,8	MCF-7	breast:
9	chr16:82637235..82637866-chr16:82673148..82673834,2	MCF-7	breast:
10	chr16:82637245..82638072-chr7:5533908..5534530,2	MCF-7	breast:
11	chr16:82574338..82577020-chr16:82578614..82582099,3	K562	blood:
12	chr16:82489933..82490529-chr16:82613677..82614369,2	MCF-7	breast:
13	chr16:82637437..82638027-chr16:82665673..82666234,2	MCF-7	breast:
14	chr16:82562045..82564037-chr16:82564945..82567166,2	K562	blood:
15	chr16:82626049..82628393-chr16:82628444..82630812,3	K562	blood:
16	chr11:24363950..24364495-chr16:82556810..82557446,2	MCF-7	breast:
17	chr16:82562045..82564037-chr16:82564945..82567166,2	K562	blood:
18	chr16:82526650..82528961-chr16:82531671..82534439,2	K562	blood:
19	chr16:82626049..82628346-chr16:82628444..82630812,2	K562	blood:
20	chr16:82637363..82638037-chr16:83389580..83390437,2	MCF-7	breast:
21	chr16:82599175..82601894-chr16:82603395..82606236,2	K562	blood:
22	chr16:82626049..82628393-chr16:82628444..82630812,3	K562	blood:
23	chr16:82612885..82613807-chr6:47277768..47278341,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPHOSPH6-1	chr16:82544324-82544501	ENSG00000261285.1
2	lnc-MPHOSPH6-1	chr16:82543994-82544149	ENSG00000261285.1
3	lnc-MPHOSPH6-2	chr16:82587801-82587853	XLOC_012025
4	lnc-MPHOSPH6-1	chr16:82543994-82544149	ENSG00000261285.1
5	lnc-MPHOSPH6-1	chr16:82543713-82543912	ENSG00000261285.1
6	lnc-MPHOSPH6-2	chr16:82608754-82609064	XLOC_012025
7	lnc-MPHOSPH6-2	chr16:82608754-82608815	ENSG00000261176.1
8	lnc-MPHOSPH6-2	chr16:82608395-82608636	XLOC_012025
9	lnc-MPHOSPH6-2	chr16:82608395-82608636	XLOC_012025
10	lnc-MPHOSPH6-2	chr16:82587654-82587853	ENSG00000261176.1
11	lnc-MPHOSPH6-2	chr16:82608395-82608636	ENSG00000261176.1
12	lnc-MPHOSPH6-2	chr16:82578752-82579064	XLOC_012025
13	lnc-MPHOSPH6-2	chr16:82608754-82609064	XLOC_012025
14	lnc-MPHOSPH6-1	chr16:82544324-82544524	ENSG00000261285.1

Variant related genes	Relation type
ENSG00000261285	TF binding region
ENSG00000261176	TF binding region
CAP1	miRNA target sites
CANX	miRNA target sites

Extended variants
information (count: 4039 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:4039 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4783119	chr16:82533703-82533704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537459727	chr16:82533708-82533709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552138501	chr16:82533731-82533732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74033516	chr16:82533734-82533735	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs62040032	chr16:82533773-82533774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561024323	chr16:82533817-82533818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374690851	chr16:82533836-82533837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139603976	chr16:82533841-82533842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574194670	chr16:82533883-82533884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535240289	chr16:82533885-82533886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372947084	chr16:82533892-82533893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149300033	chr16:82533920-82533921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191308230	chr16:82533921-82533922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183697156	chr16:82533928-82533929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565545973	chr16:82533942-82533943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577644313	chr16:82533968-82533969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113366846	chr16:82533998-82533999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369878653	chr16:82534012-82534013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560034537	chr16:82534034-82534035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139657650	chr16:82534035-82534036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371916172	chr16:82534040-82534041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564192547	chr16:82534041-82534042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549873567	chr16:82534048-82534049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563322534	chr16:82534049-82534050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111289362	chr16:82534075-82534076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563804143	chr16:82534084-82534085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35001561	chr16:82534100-82534101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552167538	chr16:82534118-82534119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140322084	chr16:82534135-82534136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142043960	chr16:82534148-82534149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374567112	chr16:82534173-82534174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149768293	chr16:82534179-82534180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540003138	chr16:82534180-82534181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546382232	chr16:82534231-82534232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567876370	chr16:82534245-82534246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186914409	chr16:82534247-82534248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151329303	chr16:82534254-82534255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556753415	chr16:82534271-82534272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552090337	chr16:82534278-82534279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191739055	chr16:82534284-82534285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12716947	chr16:82534297-82534298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369171893	chr16:82534302-82534303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534185043	chr16:82534303-82534304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184198027	chr16:82534324-82534325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547602352	chr16:82534334-82534335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372537506	chr16:82534364-82534365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553711590	chr16:82534365-82534366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574886128	chr16:82534369-82534370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542428963	chr16:82534390-82534391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563596450	chr16:82534436-82534437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82532200-82535800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:82532400-82535600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:82533400-82533800	Enhancers	Brain Germinal Matrix	brain
4	chr16:82533800-82538000	Weak transcription	Brain Germinal Matrix	brain
5	chr16:82535600-82536600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:82535600-82537200	Bivalent Enhancer	Fetal Stomach	stomach
7	chr16:82535800-82537000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:82537200-82541200	Enhancers	Fetal Stomach	stomach
9	chr16:82537800-82541000	Enhancers	Fetal Lung	lung
10	chr16:82538000-82538800	Enhancers	Brain Germinal Matrix	brain
11	chr16:82538200-82541200	Enhancers	Fetal Muscle Trunk	muscle
12	chr16:82538400-82541200	Enhancers	Fetal Muscle Leg	muscle
13	chr16:82538800-82539200	Enhancers	Fetal Kidney	kidney
14	chr16:82538800-82539800	Weak transcription	Brain Germinal Matrix	brain
15	chr16:82539000-82539200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr16:82539200-82539400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:82539200-82540800	Weak transcription	Fetal Kidney	kidney
18	chr16:82539800-82540000	Enhancers	Brain Germinal Matrix	brain
19	chr16:82540000-82541400	Weak transcription	Brain Germinal Matrix	brain
20	chr16:82540200-82540400	Flanking Active TSS	HSMMtube	muscle
21	chr16:82540400-82541000	Enhancers	HSMMtube	muscle
22	chr16:82540600-82540800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr16:82540600-82541000	Enhancers	Fetal Intestine Small	intestine
24	chr16:82540800-82541000	Enhancers	Fetal Kidney	kidney
25	chr16:82540800-82541200	ZNF genes & repeats	Placenta	Placenta
26	chr16:82541800-82542000	Weak transcription	Brain Germinal Matrix	brain
27	chr16:82542000-82542400	ZNF genes & repeats	Brain Substantia Nigra	brain
28	chr16:82542000-82543000	Enhancers	Brain Germinal Matrix	brain
29	chr16:82542200-82542400	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr16:82542200-82543200	Enhancers	Brain Anterior Caudate	brain
31	chr16:82542200-82543200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr16:82542200-82544400	Enhancers	Fetal Brain Male	brain
33	chr16:82542400-82543000	Enhancers	Brain Hippocampus Middle	brain
34	chr16:82542400-82543400	Enhancers	NH-A	brain
35	chr16:82542400-82544000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:82542400-82544200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:82542400-82544200	Enhancers	Fetal Brain Female	brain
38	chr16:82542400-82545000	Enhancers	Brain Cingulate Gyrus	brain
39	chr16:82542400-82545000	Enhancers	Brain Substantia Nigra	brain
40	chr16:82542400-82545200	Enhancers	Brain Angular Gyrus	brain
41	chr16:82542600-82544000	Enhancers	HSMM	muscle
42	chr16:82543000-82543400	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr16:82543000-82543800	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr16:82543200-82543400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr16:82543200-82543600	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr16:82543200-82543600	Enhancers	HSMMtube	muscle
47	chr16:82543400-82543800	Active TSS	Brain Hippocampus Middle	brain
48	chr16:82543400-82543800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr16:82543600-82544800	Enhancers	Brain Anterior Caudate	brain
50	chr16:82543600-82548200	Weak transcription	HSMMtube	muscle

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