Variant report

Variant	nsv457414
Chromosome Location	chr16:12672124-12674097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12664367..12666728-chr16:12670658..12673027,2	K562	blood:

Extended variants
information (count: 299 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:299 , 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	rs4781271	chr16:12672124-12672125	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570831080	chr16:12672126-12672127	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144513125	chr16:12672128-12672129	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550167666	chr16:12672135-12672136	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188134564	chr16:12672139-12672140	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9923317	chr16:12672143-12672144	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62028753	chr16:12672148-12672149	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151232359	chr16:12672151-12672152	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369453769	chr16:12672154-12672155	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117258028	chr16:12672155-12672156	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534383581	chr16:12672166-12672167	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200958625	chr16:12672168-12672169	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192649253	chr16:12672184-12672185	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74013048	chr16:12672192-12672193	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543412797	chr16:12672193-12672194	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552398367	chr16:12672194-12672195	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74691509	chr16:12672200-12672201	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117896764	chr16:12672202-12672203	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140049877	chr16:12672207-12672208	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528311014	chr16:12672210-12672211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149884497	chr16:12672212-12672213	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564582193	chr16:12672221-12672222	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184632073	chr16:12672240-12672241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550197215	chr16:12672243-12672244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74013049	chr16:12672255-12672256	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11645932	chr16:12672258-12672259	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189033970	chr16:12672267-12672268	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555343893	chr16:12672271-12672272	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144930286	chr16:12672281-12672282	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534888398	chr16:12672290-12672291	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557387719	chr16:12672292-12672293	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575196055	chr16:12672293-12672294	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370409465	chr16:12672305-12672306	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62028754	chr16:12672306-12672307	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140888941	chr16:12672307-12672308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375942757	chr16:12672313-12672314	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542872994	chr16:12672320-12672321	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564648611	chr16:12672323-12672324	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114590570	chr16:12672330-12672331	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11645976	chr16:12672340-12672341	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11859721	chr16:12672341-12672342	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564570066	chr16:12672344-12672345	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181522394	chr16:12672347-12672348	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11640423	chr16:12672352-12672353	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs80236295	chr16:12672365-12672366	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529296572	chr16:12672376-12672377	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370486792	chr16:12672383-12672384	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563329611	chr16:12672384-12672385	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9923566	chr16:12672390-12672391	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566039361	chr16:12672391-12672392	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
2	chr16:12668400-12672400	Weak transcription	Fetal Intestine Small	intestine
3	chr16:12668600-12672200	Enhancers	Primary B cells from peripheral blood	blood
4	chr16:12669400-12673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr16:12670800-12674400	Weak transcription	GM12878-XiMat	blood
6	chr16:12671000-12678400	Weak transcription	Gastric	stomach
7	chr16:12671200-12677600	Weak transcription	HepG2	liver
8	chr16:12672000-12672400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:12672200-12674400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr16:12672400-12674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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