Variant report

Variant	nsv978172
Chromosome Location	chr16:82468510-82473664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82473060..82473804-chr16:82490135..82490851,3	MCF-7	breast:
2	chr16:82473079..82475649-chr16:82476559..82478842,2	MCF-7	breast:
3	chr16:82401433..82402195-chr16:82472965..82473907,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH13-4	chr16:82468433-82468986	NONHSAT143986

Extended variants
information (count: 109 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539584102	chr16:82468532-82468533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs557990079	chr16:82468571-82468572	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs572925550	chr16:82468590-82468591	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs533920037	chr16:82468626-82468627	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs12922638	chr16:82468627-82468628	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573614777	chr16:82468630-82468631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs117981124	chr16:82468631-82468632	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs563975093	chr16:82468633-82468634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs12922648	chr16:82468649-82468650	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12924445	chr16:82468702-82468703	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564386701	chr16:82468704-82468705	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs530131329	chr16:82468709-82468710	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs185522896	chr16:82468710-82468711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs190334339	chr16:82468715-82468716	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs12923902	chr16:82468718-82468719	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529257419	chr16:82468722-82468723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs12924458	chr16:82468726-82468727	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146510715	chr16:82468734-82468735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs533266664	chr16:82468735-82468736	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs551599184	chr16:82468742-82468743	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs532508583	chr16:82468744-82468745	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs12924595	chr16:82468755-82468756	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533856385	chr16:82468764-82468765	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs565947513	chr16:82468786-82468787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs181492724	chr16:82468828-82468829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs567266586	chr16:82468847-82468848	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs537809159	chr16:82468852-82468853	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs555890233	chr16:82468855-82468856	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs575892290	chr16:82468877-82468878	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs546131770	chr16:82468884-82468885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs543936981	chr16:82468902-82468903	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs557918881	chr16:82468905-82468906	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs573131347	chr16:82468917-82468918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs16957334	chr16:82468934-82468935	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562175885	chr16:82468961-82468962	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs529375734	chr16:82468977-82468978	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs79167911	chr16:82470401-82470402	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs565374553	chr16:82470435-82470436	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs534490923	chr16:82470476-82470477	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs182645824	chr16:82470495-82470496	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs567968955	chr16:82470503-82470504	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs538019941	chr16:82470522-82470523	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs559730278	chr16:82470523-82470524	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs556799757	chr16:82470529-82470530	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs186872409	chr16:82470530-82470531	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs539176475	chr16:82470533-82470534	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs2317973	chr16:82470536-82470537	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs554193319	chr16:82470540-82470541	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs2317974	chr16:82470541-82470542	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs528382693	chr16:82470545-82470546	Bivalent Enhancer	n/a	n/a	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82470400-82470600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:82472600-82472800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:82473000-82474600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:82473200-82474600	Enhancers	Fetal Heart	heart
5	chr16:82473200-82474800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:82473200-82476000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:82473600-82474000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr16:82473600-82474400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:82473600-82474600	Enhancers	HUES6 Cell Line	embryonic stem cell

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