Variant report

Variant	nsv984369
Chromosome Location	chr16:12027747-12036458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr16:12029595-12029917	HepG2	liver:	n/a	n/a
2	GATA2	chr16:12030265-12030454	K562	blood:	n/a	n/a
3	PAX5	chr16:12029572-12029898	GM12878	blood:	n/a	chr16:12029707-12029724
4	PAX5	chr16:12029566-12029934	GM12878	blood:	n/a	chr16:12029707-12029724
5	POLR2A	chr16:12035371-12035564	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr16:12029530-12029941	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:12035297-12035682	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:12035426-12035555	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:12035411-12035565	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr16:12029596-12029997	GM12891	blood:	n/a	n/a
11	POLR2A	chr16:12035076-12035657	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr16:12035427-12035589	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:12029542-12029927	GM12891	blood:	n/a	n/a
14	POLR2A	chr16:12035289-12035661	GM12892	blood:	n/a	n/a
15	POLR2A	chr16:12029541-12029924	GM12892	blood:	n/a	n/a
16	POLR2A	chr16:12035380-12035582	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr16:12035299-12035584	H1-hESC	embryonic stem cell:	n/a	n/a
18	TBP	chr16:12035454-12035609	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-166B2.1.1-2	chr16:12031397-12031525	NONHSAT140610
2	lnc-RP11-166B2.1.1-2	chr16:12027682-12027781	NONHSAT140610

Variant related genes	Relation type
ENSG00000234719	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191739467	chr16:12027773-12027774	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs71385125	chr16:12027781-12027782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs199636799	chr16:12030008-12030009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371790041	chr16:12030077-12030078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551322431	chr16:12030078-12030079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567235588	chr16:12030113-12030114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62040805	chr16:12030144-12030145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs117129788	chr16:12030154-12030155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182535480	chr16:12030155-12030156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140467265	chr16:12030181-12030182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558330186	chr16:12030199-12030200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545564547	chr16:12030857-12030858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565455681	chr16:12030884-12030885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187708408	chr16:12030988-12030989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367565965	chr16:12031002-12031003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3895656	chr16:12031036-12031037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3895655	chr16:12031041-12031042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138170169	chr16:12031046-12031047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529643062	chr16:12031106-12031107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190939437	chr16:12031213-12031214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183974231	chr16:12031224-12031225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538326627	chr16:12031236-12031237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551888266	chr16:12031272-12031273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568677510	chr16:12031320-12031321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537672447	chr16:12031324-12031325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554801900	chr16:12031336-12031337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs637136	chr16:12031346-12031347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs62040806	chr16:12031353-12031354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553088820	chr16:12031361-12031362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62040807	chr16:12031379-12031380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs201386121	chr16:12031387-12031388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs677507	chr16:12031390-12031391	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575876572	chr16:12031417-12031418	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs188919172	chr16:12031443-12031444	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs636664	chr16:12031448-12031449	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs530326670	chr16:12031457-12031458	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539519597	chr16:12031462-12031463	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs540951733	chr16:12031466-12031467	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs559878844	chr16:12031491-12031492	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs531996913	chr16:12031517-12031518	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs551829154	chr16:12031600-12031601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189451493	chr16:12035421-12035422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527763347	chr16:12035436-12035437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192424443	chr16:12035449-12035450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71388718	chr16:12035464-12035465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138020956	chr16:12035469-12035470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539665240	chr16:12035470-12035471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139015766	chr16:12035484-12035485	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs141545146	chr16:12035496-12035497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535810131	chr16:12035508-12035509	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Breast cancer	21858162	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
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12030000-12030200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr16:12030800-12031000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:12030800-12031600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:12035400-12035800	Enhancers	H1 Cell Line	embryonic stem cell

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