Variant report

Variant	esv3446492
Chromosome Location	chr16:82965577-82967980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574388459	chr16:82965586-82965587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182645899	chr16:82965591-82965592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556804547	chr16:82965594-82965595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576890487	chr16:82965612-82965613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148023749	chr16:82965629-82965630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559132041	chr16:82965630-82965631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528322246	chr16:82965640-82965641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17743387	chr16:82965653-82965654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188069917	chr16:82965676-82965677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530840530	chr16:82965691-82965692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550975047	chr16:82965708-82965709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570823315	chr16:82965747-82965748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534041979	chr16:82965760-82965761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533476986	chr16:82965767-82965768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547170956	chr16:82965774-82965775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372020878	chr16:82965780-82965781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192789089	chr16:82965818-82965819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140779506	chr16:82965820-82965821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150107131	chr16:82965830-82965831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568023919	chr16:82965832-82965833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536612612	chr16:82965843-82965844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558910324	chr16:82965845-82965846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527857963	chr16:82965850-82965851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138676782	chr16:82965885-82965886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372094529	chr16:82965898-82965899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142713642	chr16:82965928-82965929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552746380	chr16:82965936-82965937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572736059	chr16:82965979-82965980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2325692	chr16:82966013-82966014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561807702	chr16:82966039-82966040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147351413	chr16:82966058-82966059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544241923	chr16:82966087-82966088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564510400	chr16:82966134-82966135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138584097	chr16:82966144-82966145	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149629536	chr16:82966147-82966148	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560650462	chr16:82966177-82966178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529537298	chr16:82966224-82966225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114203741	chr16:82966246-82966247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115410958	chr16:82966271-82966272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144338630	chr16:82966273-82966274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148762214	chr16:82966310-82966311	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570159311	chr16:82966337-82966338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539136316	chr16:82966388-82966389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552679472	chr16:82966406-82966407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572625920	chr16:82966418-82966419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185281923	chr16:82966451-82966452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7200238	chr16:82966458-82966459	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555548328	chr16:82966459-82966460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575405147	chr16:82966530-82966531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544543903	chr16:82966568-82966569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82934000-83003400	Weak transcription	NHEK	skin
2	chr16:82934400-82967000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:82934400-82967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:82934600-82989600	Weak transcription	HSMMtube	muscle
5	chr16:82958400-82966000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:82959200-82977400	Weak transcription	Left Ventricle	heart
7	chr16:82959200-82977600	Weak transcription	Right Atrium	heart
8	chr16:82959400-82977400	Weak transcription	Right Ventricle	heart
9	chr16:82962000-82970200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:82962600-82970200	Weak transcription	HSMM	muscle
11	chr16:82966000-82968400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:82967000-82968000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:82967200-82969000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
14	chr16:82967200-82970000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:82967400-82967600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr16:82967400-82968000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:82967400-82968000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:82967400-82972400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:82967600-82968000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:82967800-82968000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr16:82967800-82968000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr16:82967800-82969600	Weak transcription	HUVEC	blood vessel

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