Variant report

Variant	nsv978327
Chromosome Location	chr16:52261815-52269490
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	CTCF	chr16:52268449-52268491	Kidney_OC	kidney:	n/a	n/a
2	E2F6	chr16:52262989-52263336	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr16:52266124-52266132	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr16:52262991-52263218	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr16:52267030-52267078	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:52262191-52262671	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr16:52262895-52263291	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr16:52264244-52264291	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr16:52269085-52269492	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr16:52266960-52267060	A549	lung:	n/a	n/a
11	POLR2A	chr16:52262194-52262559	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr16:52269103-52269484	H1-neurons	neurons:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-152O14.2.1-3	chr16:52261808-52261868	ENSG00000260975.1

Variant related genes	Relation type
ENSG00000260478	TF binding region
ENSG00000260975	TF binding region

Extended variants
information (count: 255 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:255 , 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	rs12599384	chr16:52261878-52261879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576844328	chr16:52261939-52261940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545818696	chr16:52261946-52261947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148437393	chr16:52261971-52261972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185665655	chr16:52262011-52262012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554362441	chr16:52262075-52262076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561877423	chr16:52262081-52262082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1076081	chr16:52262091-52262092	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546802305	chr16:52262097-52262098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577934546	chr16:52262168-52262169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550493352	chr16:52262187-52262188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545096590	chr16:52262202-52262203	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs535945176	chr16:52262231-52262232	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs145105123	chr16:52262266-52262267	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs571371826	chr16:52262297-52262298	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs189339687	chr16:52262301-52262302	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538158540	chr16:52262302-52262303	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs554807352	chr16:52262365-52262366	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs74017271	chr16:52262367-52262368	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575623690	chr16:52262368-52262369	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs1080490	chr16:52262415-52262416	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1080489	chr16:52262467-52262468	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576912658	chr16:52262468-52262469	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs545577882	chr16:52262506-52262507	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556200591	chr16:52262699-52262700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60786559	chr16:52262735-52262736	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs147616817	chr16:52262740-52262741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142118712	chr16:52262753-52262754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561938335	chr16:52262758-52262759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527573703	chr16:52262760-52262761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541258893	chr16:52262784-52262785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145943340	chr16:52262801-52262802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560589909	chr16:52262859-52262860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373534843	chr16:52262896-52262897	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568926787	chr16:52262910-52262911	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs72305626	chr16:52262957-52262958	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs34614668	chr16:52262960-52262961	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs180915535	chr16:52262979-52262980	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs3086456	chr16:52262990-52262991	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs58540411	chr16:52262993-52262994	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs531568389	chr16:52262995-52262996	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs548156565	chr16:52263034-52263035	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs151232087	chr16:52263048-52263049	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs573776676	chr16:52263093-52263094	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs534217758	chr16:52263150-52263151	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs577101501	chr16:52263151-52263152	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs570910983	chr16:52263158-52263159	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs186331064	chr16:52263162-52263163	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs556263252	chr16:52263196-52263197	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs576130133	chr16:52263200-52263201	Weak transcription Enhancers	TF binding region	1 gene(s)	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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	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
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Retinoblastoma	19183342	CNVD
Myelofibrosis	22110671	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:52260600-52262400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:52261200-52263200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:52261400-52262400	Weak transcription	Placenta	Placenta
4	chr16:52261600-52262200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:52261600-52262200	Enhancers	Fetal Kidney	kidney
6	chr16:52261800-52262000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:52261800-52263600	Enhancers	Fetal Muscle Leg	muscle
8	chr16:52262200-52263000	Weak transcription	Fetal Kidney	kidney
9	chr16:52262200-52263200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr16:52262200-52266800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:52262400-52263400	Enhancers	Placenta	Placenta
12	chr16:52262400-52263800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:52263000-52264200	Enhancers	Fetal Kidney	kidney
14	chr16:52264200-52270000	Weak transcription	Fetal Kidney	kidney
15	chr16:52266800-52267200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:52267200-52272800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:52267400-52267600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:52267600-52268600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:52268200-52271600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:52268600-52269400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:52268800-52270800	Enhancers	Stomach Mucosa	stomach

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