Variant report

Variant	nsv817736
Chromosome Location	chr16:70871031-70913984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:524)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:70898638-70899114	K562	blood:	n/a	n/a
2	ARID3A	chr16:70885309-70885610	K562	blood:	n/a	n/a
3	ARID3A	chr16:70909125-70909126	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:70910409-70910772	K562	blood:	n/a	n/a
5	ATF1	chr16:70885325-70885487	K562	blood:	n/a	n/a
6	ATF1	chr16:70903146-70903233	K562	blood:	n/a	n/a
7	ATF1	chr16:70898619-70899190	K562	blood:	n/a	n/a
8	ATF3	chr16:70898546-70898968	K562	blood:	n/a	n/a
9	BACH1	chr16:70897093-70897112	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr16:70885937-70886038	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr16:70896722-70896732	K562	blood:	n/a	n/a
12	BACH1	chr16:70883608-70883612	K562	blood:	n/a	n/a
13	BACH1	chr16:70908751-70908815	K562	blood:	n/a	n/a
14	BACH1	chr16:70895746-70896281	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr16:70898321-70899349	K562	blood:	n/a	n/a
16	BATF	chr16:70898626-70898920	GM12878	blood:	n/a	chr16:70898733-70898744
17	BHLHE40	chr16:70898649-70899144	K562	blood:	n/a	n/a
18	BHLHE40	chr16:70899625-70900244	K562	blood:	n/a	n/a
19	BHLHE40	chr16:70896798-70896822	K562	blood:	n/a	n/a
20	BHLHE40	chr16:70887483-70887753	K562	blood:	n/a	n/a
21	BHLHE40	chr16:70908716-70908725	K562	blood:	n/a	n/a
22	BRCA1	chr16:70896161-70896241	HepG2	liver:	n/a	n/a
23	CCNT2	chr16:70898624-70899080	K562	blood:	n/a	n/a
24	CEBPB	chr16:70885279-70885699	MCF-7	breast:	n/a	n/a
25	CEBPB	chr16:70898275-70899134	K562	blood:	n/a	chr16:70898381-70898392
26	CEBPB	chr16:70898257-70898481	A549	lung:	n/a	chr16:70898381-70898392
27	CEBPB	chr16:70885286-70885571	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr16:70898285-70898549	HepG2	liver:	n/a	chr16:70898381-70898392
29	CEBPB	chr16:70887428-70887908	MCF-7	breast:	n/a	n/a
30	CEBPB	chr16:70897291-70897491	K562	blood:	n/a	n/a
31	CEBPB	chr16:70887447-70887797	K562	blood:	n/a	n/a
32	CEBPB	chr16:70893636-70893973	K562	blood:	n/a	chr16:70893904-70893916
33	CEBPB	chr16:70887483-70887827	Hela-S3	cervix:	n/a	n/a
34	CEBPD	chr16:70898506-70899109	K562	blood:	n/a	n/a
35	CEBPZ	chr16:70893495-70893575	HepG2	liver:	n/a	n/a
36	CEBPZ	chr16:70908219-70908233	HepG2	liver:	n/a	n/a
37	CHD1	chr16:70889658-70889663	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr16:70886289-70886315	GM12878	blood:	n/a	n/a
39	CHD2	chr16:70895980-70896180	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr16:70899195-70899351	K562	blood:	n/a	n/a
41	CTCF	chr16:70910500-70910650	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr16:70910552-70910635	GM20000	blood:	n/a	n/a
43	CTCF	chr16:70910514-70910600	ProgFib	skin:	n/a	n/a
44	CTCF	chr16:70910449-70910691	MCF-7	breast:	n/a	n/a
45	CTCF	chr16:70910540-70910690	NHLF	lung:	n/a	n/a
46	CTCF	chr16:70910520-70910670	NB4	blood:	n/a	n/a
47	CTCF	chr16:70895949-70896125	K562	blood:	n/a	n/a
48	CTCF	chr16:70910500-70910650	RPTEC	kidney:	n/a	n/a
49	CTCF	chr16:70910500-70910650	GM06990	blood:	n/a	n/a
50	CTCF	chr16:70910460-70910610	GM12875	blood:	n/a	n/a

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70892742..70895485-chr16:70897161..70899816,2	MCF-7	breast:
2	chr1:146552883..146557550-chr16:70909042..70912977,5	K562	blood:
3	chr16:70909112..70910995-chr16:70914381..70916223,2	K562	blood:
4	chr16:70894965..70896634-chr16:70898523..70901447,3	K562	blood:
5	chr1:146627596..146628413-chr16:70910145..70911007,2	MCF-7	breast:
6	chr16:70888972..70889672-chr17:55041883..55042494,2	MCF-7	breast:
7	chr16:70907004..70910051-chr16:70911596..70914440,3	MCF-7	breast:
8	chr16:70889404..70891684-chr16:70898528..70900628,2	K562	blood:
9	chr1:146556050..146557611-chr16:70910877..70913228,2	K562	blood:
10	chr16:70882577..70885535-chr16:70888288..70890191,2	MCF-7	breast:
11	chr16:70892742..70895485-chr16:70897161..70899816,2	MCF-7	breast:
12	chr16:70882968..70884936-chr16:70923760..70925953,2	MCF-7	breast:
13	chr16:70902244..70904397-chr16:70906076..70908681,2	MCF-7	breast:
14	chr16:70909790..70910570-chr3:148668552..148669302,2	MCF-7	breast:
15	chr16:70894350..70896692-chr16:70897028..70900394,4	K562	blood:
16	chr16:70908214..70909988-chr16:70911731..70913794,2	K562	blood:
17	chr16:70888995..70891517-chr16:70891882..70894000,2	MCF-7	breast:
18	chr16:70899947..70901471-chr9:136214163..136216466,2	MCF-7	breast:
19	chr16:70897651..70899575-chr16:70902607..70905321,2	K562	blood:
20	chr16:70888165..70891145-chr16:70894770..70897226,2	K562	blood:
21	chr16:70888995..70891517-chr16:70891882..70894000,2	MCF-7	breast:
22	chr16:70901149..70903044-chr16:70910466..70912413,2	K562	blood:
23	chr16:70908214..70909988-chr16:70911731..70913794,2	K562	blood:
24	chr16:70913032..70914937-chr16:70919869..70924288,3	MCF-7	breast:
25	chr16:70891977..70893990-chr16:70894420..70897858,4	K562	blood:
26	chr16:70910703..70912215-chr16:70925552..70928004,2	K562	blood:
27	chr16:70902035..70902889-chr16:70910124..70910662,2	K562	blood:
28	chr16:70832610..70835420-chr16:70895193..70897574,2	MCF-7	breast:
29	chr1:146714025..146715128-chr16:70910101..70910908,5	MCF-7	breast:
30	chr16:70882577..70885535-chr16:70888288..70890191,2	MCF-7	breast:
31	chr16:70897651..70899575-chr16:70902607..70905321,2	K562	blood:
32	chr1:146713840..146714676-chr16:70910147..70910888,3	MCF-7	breast:
33	chr16:70829462..70832191-chr16:70890094..70892125,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VAC14-3	chr16:70876779-70876853	ucscGeneNc_uc002fcg_1
2	lnc-VAC14-3	chr16:70875972-70876160	ucscGeneNc_uc002fcg_1
3	lnc-VAC14-3	chr16:70881850-70882007	ucscGeneNc_uc002fcg_1
4	lnc-VAC14-3	chr16:70874701-70875034	ucscGeneNc_uc002fcg_1
5	lnc-VAC14-3	chr16:70882570-70882816	ucscGeneNc_uc002fcg_1

No data

Variant related genes	Relation type
RNU6ATAC25P	TF binding region
HYDIN	TF binding region
ENSG00000223316	TF binding region
ENSG00000251700	TF binding region
ENSG00000131778	chromatin interactions
ENSG00000103043	chromatin interactions
ENSG00000131781	chromatin interactions
ENSG00000206611	chromatin interactions
ENSG00000148303	chromatin interactions
ENSG00000230832	chromatin interactions
ENSG00000251700	chromatin interactions
ENSG00000148297	chromatin interactions
ENSG00000157423	chromatin interactions
ENSG00000223316	chromatin interactions

Extended variants
information (count: 1297 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1297 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531203575	chr16:70874792-70874793	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs58083377	chr16:70874793-70874794	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs561807995	chr16:70874804-70874805	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs528996981	chr16:70874822-70874823	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs1770406	chr16:70874865-70874866	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs547542297	chr16:70874891-70874892	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs565887587	chr16:70874898-70874899	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs539707196	chr16:70874935-70874936	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs116555645	chr16:70874951-70874952	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs112351457	chr16:70875991-70875992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs11644199	chr16:70876005-70876006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs559472827	chr16:70876055-70876056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs533073299	chr16:70876116-70876117	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs545193934	chr16:70876121-70876122	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs550122033	chr16:70876784-70876785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs12149159	chr16:70880818-70880819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11075796	chr16:70880900-70880901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113636481	chr16:70880904-70880905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368493962	chr16:70881000-70881001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112999027	chr16:70881009-70881010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575222094	chr16:70881012-70881013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536351503	chr16:70881020-70881021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554428918	chr16:70881021-70881022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10852470	chr16:70881031-70881032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151152261	chr16:70881061-70881062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372185055	chr16:70881092-70881093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370440617	chr16:70881209-70881210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199930534	chr16:70881305-70881306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572694818	chr16:70881364-70881365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540086998	chr16:70881412-70881413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1592162	chr16:70881429-70881430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558412402	chr16:70881456-70881457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189350997	chr16:70881461-70881462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547838591	chr16:70881464-70881465	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181929173	chr16:70881517-70881518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138140383	chr16:70881523-70881524	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61063363	chr16:70881533-70881534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563701906	chr16:70881578-70881579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530866356	chr16:70881634-70881635	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs543097692	chr16:70881650-70881651	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs561271491	chr16:70881654-70881655	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs7203926	chr16:70881687-70881688	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs1592163	chr16:70881688-70881689	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs528675251	chr16:70881735-70881736	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs1592164	chr16:70881753-70881754	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs141966594	chr16:70881756-70881757	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs547248946	chr16:70881768-70881769	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs571936471	chr16:70881804-70881805	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs4788604	chr16:70881850-70881851	ZNF genes & repeats Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs532878829	chr16:70881924-70881925	ZNF genes & repeats Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70880800-70906600	Weak transcription	Fetal Kidney	kidney
2	chr16:70881000-70882400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr16:70881000-70883400	Weak transcription	Brain Angular Gyrus	brain
4	chr16:70881200-70886400	Weak transcription	Fetal Heart	heart
5	chr16:70881400-70882000	Weak transcription	Brain Germinal Matrix	brain
6	chr16:70881400-70884400	ZNF genes & repeats	Fetal Brain Female	brain
7	chr16:70881400-70885000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:70881600-70882400	Weak transcription	Brain Hippocampus Middle	brain
9	chr16:70881600-70882800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr16:70881800-70883400	Weak transcription	Brain Substantia Nigra	brain
11	chr16:70882000-70882400	Weak transcription	Brain Anterior Caudate	brain
12	chr16:70882000-70882800	ZNF genes & repeats	Brain Germinal Matrix	brain
13	chr16:70882400-70882800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
14	chr16:70882400-70882800	ZNF genes & repeats	Brain Hippocampus Middle	brain
15	chr16:70882400-70882800	ZNF genes & repeats	Fetal Brain Male	brain
16	chr16:70882400-70882800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
17	chr16:70882400-70883800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr16:70882400-70884400	Strong transcription	Brain Anterior Caudate	brain
19	chr16:70882400-70884400	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr16:70882600-70882800	ZNF genes & repeats	Aorta	Aorta
21	chr16:70882600-70882800	ZNF genes & repeats	Pancreas	Pancrea
22	chr16:70882600-70883600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:70882800-70883200	Weak transcription	Brain Hippocampus Middle	brain
24	chr16:70882800-70883400	Weak transcription	Fetal Brain Male	brain
25	chr16:70882800-70883400	Weak transcription	Pancreas	Pancrea
26	chr16:70882800-70883600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:70882800-70884400	Strong transcription	Brain Germinal Matrix	brain
28	chr16:70882800-70884600	Strong transcription	Pancreatic Islets	Pancreatic Islet
29	chr16:70882800-70892000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:70883000-70885600	Weak transcription	Fetal Lung	lung
31	chr16:70883200-70883800	Strong transcription	Brain Hippocampus Middle	brain
32	chr16:70883400-70883800	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr16:70883400-70883800	Strong transcription	Fetal Brain Male	brain
34	chr16:70883400-70883800	Strong transcription	Pancreas	Pancrea
35	chr16:70883400-70884000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
36	chr16:70883400-70884600	Strong transcription	Brain Angular Gyrus	brain
37	chr16:70883600-70884000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr16:70883600-70884400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:70883600-70884800	ZNF genes & repeats	HMEC	breast
40	chr16:70883800-70885600	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:70883800-70902200	Weak transcription	Fetal Brain Male	brain
42	chr16:70883800-70904200	Weak transcription	Pancreas	Pancrea
43	chr16:70883800-70906400	Weak transcription	Brain Substantia Nigra	brain
44	chr16:70884000-70884600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr16:70884400-70889200	Weak transcription	Brain Germinal Matrix	brain
46	chr16:70884400-70898800	Weak transcription	Brain Anterior Caudate	brain
47	chr16:70884400-70898800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr16:70884400-70899800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:70884600-70885400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr16:70884600-70902000	Weak transcription	Brain Angular Gyrus	brain

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