Variant report

Variant	nsv906937
Chromosome Location	chr16:76077294-76163049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:76152673..76155052-chr16:76163507..76166139,2	K562	blood:
2	chr16:76138800..76139300-chr7:100952476..100953045,3	HCT-116	colon:
3	chr16:76109470..76111074-chr16:76115250..76116774,2	MCF-7	breast:
4	chr16:76150031..76151626-chr16:76156509..76159199,2	MCF-7	breast:
5	chr16:76109470..76111074-chr16:76115250..76116774,2	MCF-7	breast:
6	chr16:76076451..76078848-chr2:55275762..55278542,2	MCF-7	breast:
7	chr16:76150031..76151626-chr16:76156509..76159199,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC025287.1-2	chr16:76142134-76142240	ENSG00000260223.1
2	lnc-AC025287.1-2	chr16:76141181-76141401	ENSG00000260223.1

No data

Variant related genes	Relation type
ENSG00000115310	chromatin interactions

Extended variants
information (count: 2761 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2761 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs160964	chr16:76077294-76077295	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181704504	chr16:76077320-76077321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567979058	chr16:76077365-76077366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536532030	chr16:76077373-76077374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148406758	chr16:76077379-76077380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566525463	chr16:76077383-76077384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186161566	chr16:76077388-76077389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558636801	chr16:76077390-76077391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575621045	chr16:76077566-76077567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543630397	chr16:76077582-76077583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542999920	chr16:76077596-76077597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142674192	chr16:76077616-76077617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573918049	chr16:76077619-76077620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150595899	chr16:76077643-76077644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535353769	chr16:76077648-76077649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559637953	chr16:76077688-76077689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs139566875	chr16:76077689-76077690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562843158	chr16:76077705-76077706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144451877	chr16:76077707-76077708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs147825844	chr16:76077727-76077728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551192446	chr16:76077757-76077758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545288362	chr16:76077776-76077777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567751190	chr16:76077834-76077835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191872728	chr16:76077835-76077836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184065180	chr16:76077842-76077843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373537042	chr16:76077869-76077870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538664886	chr16:76077877-76077878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187461179	chr16:76077984-76077985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569367550	chr16:76077991-76077992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34636450	chr16:76078007-76078008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs397854979	chr16:76078019-76078020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191200664	chr16:76078027-76078028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs537942885	chr16:76078100-76078101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs562362192	chr16:76078116-76078117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141603034	chr16:76078159-76078160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527862911	chr16:76078205-76078206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376465537	chr16:76078206-76078207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548153399	chr16:76078210-76078211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182524238	chr16:76078212-76078213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187136592	chr16:76078262-76078263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573148908	chr16:76078263-76078264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545053840	chr16:76078265-76078266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376801770	chr16:76078267-76078268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564712319	chr16:76078294-76078295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575339638	chr16:76078303-76078304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369676034	chr16:76078335-76078336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs160963	chr16:76078338-76078339	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34332811	chr16:76078349-76078350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549705639	chr16:76078368-76078369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs62050487	chr16:76078377-76078378	Weak transcription	Chromatin interactive region	1 gene(s)	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76071600-76098400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76083000-76083200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:76090600-76091200	Active TSS	HMEC	breast
4	chr16:76091200-76092400	Weak transcription	HMEC	breast
5	chr16:76092400-76094600	Enhancers	HMEC	breast
6	chr16:76093000-76093400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr16:76093200-76093800	Enhancers	Brain Substantia Nigra	brain
8	chr16:76093200-76094400	Enhancers	Brain Hippocampus Middle	brain
9	chr16:76094200-76095000	Enhancers	Brain Germinal Matrix	brain
10	chr16:76094600-76098400	Weak transcription	HMEC	breast
11	chr16:76095000-76098400	Weak transcription	Brain Germinal Matrix	brain
12	chr16:76095400-76097400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:76096000-76096800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:76096000-76096800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr16:76096200-76097000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr16:76096400-76096800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr16:76096600-76097000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr16:76097400-76098600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:76098400-76099000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:76098400-76099400	Enhancers	HMEC	breast
21	chr16:76098600-76099200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:76099000-76105600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:76099400-76103400	Weak transcription	HMEC	breast
24	chr16:76105200-76105400	Weak transcription	HMEC	breast
25	chr16:76105600-76106000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:76106000-76115000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:76109000-76109600	Enhancers	Brain Germinal Matrix	brain
28	chr16:76109600-76110400	Weak transcription	Brain Germinal Matrix	brain
29	chr16:76110800-76111000	Enhancers	HMEC	breast
30	chr16:76111000-76115000	Weak transcription	HMEC	breast
31	chr16:76112200-76112600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr16:76112200-76112600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr16:76114400-76114600	Enhancers	Brain Anterior Caudate	brain
34	chr16:76114400-76116800	Enhancers	Brain Hippocampus Middle	brain
35	chr16:76114600-76115800	Weak transcription	Brain Anterior Caudate	brain
36	chr16:76115000-76115600	Enhancers	HMEC	breast
37	chr16:76115000-76116600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:76115600-76115800	Enhancers	Brain Substantia Nigra	brain
39	chr16:76115600-76116200	Flanking Active TSS	HMEC	breast
40	chr16:76115800-76116000	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr16:76115800-76116200	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr16:76115800-76116200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr16:76115800-76116600	Enhancers	Brain Angular Gyrus	brain
44	chr16:76116000-76116600	Active TSS	Brain Substantia Nigra	brain
45	chr16:76116000-76117000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:76116200-76116600	Enhancers	Brain Anterior Caudate	brain
47	chr16:76116200-76116600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr16:76116200-76117600	Enhancers	HMEC	breast
49	chr16:76116400-76116800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr16:76116600-76116800	Flanking Active TSS	Brain Substantia Nigra	brain

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