Variant report

Variant	nsv457417
Chromosome Location	chr16:12672352-12674962
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: 375 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11640423	chr16:12672352-12672353	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs80236295	chr16:12672365-12672366	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529296572	chr16:12672376-12672377	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370486792	chr16:12672383-12672384	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563329611	chr16:12672384-12672385	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9923566	chr16:12672390-12672391	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566039361	chr16:12672391-12672392	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11640455	chr16:12672393-12672394	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186599300	chr16:12672396-12672397	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144702590	chr16:12672414-12672415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537183203	chr16:12672430-12672431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556794395	chr16:12672442-12672443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116080388	chr16:12672446-12672447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565552773	chr16:12672461-12672462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535879270	chr16:12672468-12672469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534905456	chr16:12672476-12672477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189388062	chr16:12672482-12672483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138413559	chr16:12672493-12672494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9923667	chr16:12672518-12672519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs558820272	chr16:12672523-12672524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9934121	chr16:12672526-12672527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181344271	chr16:12672527-12672528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117818739	chr16:12672544-12672545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11075101	chr16:12672557-12672558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62029200	chr16:12672565-12672566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528789007	chr16:12672566-12672567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141372086	chr16:12672586-12672587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9936373	chr16:12672591-12672592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531034596	chr16:12672604-12672605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185466809	chr16:12672605-12672606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576083223	chr16:12672609-12672610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534821852	chr16:12672616-12672617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535598011	chr16:12672622-12672623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553030423	chr16:12672632-12672633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528029526	chr16:12672638-12672639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143374048	chr16:12672644-12672645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189780425	chr16:12672656-12672657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148378038	chr16:12672663-12672664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377511539	chr16:12672664-12672665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141398872	chr16:12672666-12672667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150828272	chr16:12672669-12672670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557421552	chr16:12672677-12672678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574100590	chr16:12672679-12672680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367688221	chr16:12672681-12672682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542592319	chr16:12672692-12672693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77315122	chr16:12672695-12672696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138326506	chr16:12672696-12672697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183500462	chr16:12672700-12672701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377176219	chr16:12672701-12672702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143900834	chr16:12672708-12672709	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12668400-12672400	Weak transcription	Fetal Intestine Small	intestine
2	chr16:12669400-12673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:12670800-12674400	Weak transcription	GM12878-XiMat	blood
4	chr16:12671000-12678400	Weak transcription	Gastric	stomach
5	chr16:12671200-12677600	Weak transcription	HepG2	liver
6	chr16:12672000-12672400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:12672200-12674400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr16:12672400-12674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:12674400-12674600	Enhancers	Stomach Mucosa	stomach
10	chr16:12674400-12675400	Enhancers	GM12878-XiMat	blood
11	chr16:12674400-12675600	Enhancers	Primary B cells from peripheral blood	blood
12	chr16:12674600-12674800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:12674600-12677600	Weak transcription	Stomach Mucosa	stomach

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