Variant report

Variant	nsv1063642
Chromosome Location	chr16:77169206-77194119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:77181982..77184982-chr17:41464697..41467202,3	K562	blood:
2	chr16:77181982..77183502-chr3:73158431..73160133,3	K562	blood:
3	chr16:77182982..77183502-chr17:41465686..41466203,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MON1B-2	chr16:77183322-77183751	NONHSAT143790
2	lnc-MON1B-2	chr16:77183883-77185106	NONHSAT143790

Variant related genes	Relation type
ENSG00000188825	chromatin interactions

Extended variants
information (count: 287 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567040640	chr16:77170811-77170812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535918176	chr16:77170820-77170821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375525275	chr16:77170838-77170839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386792334	chr16:77170847-77170848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs55833064	chr16:77170848-77170849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12051225	chr16:77170866-77170867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558859865	chr16:77170878-77170879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369993362	chr16:77170902-77170903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575403106	chr16:77170915-77170916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115289757	chr16:77170951-77170952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188478892	chr16:77170957-77170958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547253471	chr16:77170958-77170959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574060946	chr16:77170993-77170994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567571393	chr16:77170994-77170995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191814552	chr16:77171021-77171022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71716588	chr16:77171027-77171028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374590054	chr16:77171068-77171069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559875302	chr16:77171115-77171116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528728162	chr16:77171163-77171164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551633859	chr16:77171167-77171168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13330504	chr16:77171183-77171184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536013305	chr16:77171184-77171185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113624840	chr16:77179013-77179014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533568974	chr16:77179050-77179051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9939570	chr16:77179052-77179053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9932469	chr16:77179084-77179085	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113758921	chr16:77179115-77179116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187527680	chr16:77179184-77179185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371906901	chr16:77179203-77179204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549632112	chr16:77179256-77179257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112525727	chr16:77179264-77179265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9940339	chr16:77179300-77179301	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551063642	chr16:77179303-77179304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369176172	chr16:77179304-77179305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71378608	chr16:77179333-77179334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12924113	chr16:77179335-77179336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146763781	chr16:77179336-77179337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553224675	chr16:77179346-77179347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9922157	chr16:77179360-77179361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569477685	chr16:77181992-77181993	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186847078	chr16:77182029-77182030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555248704	chr16:77182086-77182087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs76085604	chr16:77182094-77182095	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150537486	chr16:77182111-77182112	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553829827	chr16:77182176-77182177	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576889527	chr16:77182230-77182231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539581671	chr16:77182246-77182247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs71394299	chr16:77182255-77182256	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543285339	chr16:77182287-77182288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541619859	chr16:77182306-77182307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77170800-77171200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:77179000-77179400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:77188600-77189000	Enhancers	Fetal Stomach	stomach
4	chr16:77191000-77191200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:77191000-77191200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:77191200-77191400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:77191200-77191400	Enhancers	Fetal Muscle Leg	muscle
8	chr16:77191200-77191600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:77191200-77192000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:77191400-77191800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:77191600-77192000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:77191800-77192000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:77192000-77192200	Enhancers	Fetal Muscle Leg	muscle
14	chr16:77192000-77192400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:77192000-77192600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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