Variant report

Variant	nsv511575
Chromosome Location	chr16:48504364-48512981
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	chr16:48505572-48505667	GM12891	blood:	n/a	chr16:48505613-48505626
2	CTCF	chr16:48505579-48505608	GM19239	blood:	n/a	n/a
3	CTCF	chr16:48505540-48505690	GM12868	blood:	n/a	chr16:48505613-48505626
4	CTCF	chr16:48505558-48505655	GM10266	blood:	n/a	chr16:48505613-48505626
5	CTCF	chr16:48505480-48505630	GM12872	blood:	n/a	chr16:48505613-48505626
6	POLR2A	chr16:48505472-48505480	Gliobla	brain:	n/a	n/a
7	RAD21	chr16:48505399-48505795	H1-hESC	embryonic stem cell:	n/a	chr16:48505614-48505627
8	REST	chr16:48512357-48512647	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr16:48512343-48512632	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP1	chr16:48512246-48512745	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr16:48512398-48512712	H1-hESC	embryonic stem cell:	n/a	n/a
12	TBP	chr16:48505344-48505395	HepG2	liver:	n/a	n/a
13	TEAD4	chr16:48512343-48512805	H1-hESC	embryonic stem cell:	n/a	n/a
14	TEAD4	chr16:48512363-48512747	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000260688	TF binding region

Extended variants
information (count: 203 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140471613	chr16:48505000-48505001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572529293	chr16:48505047-48505048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192017737	chr16:48505062-48505063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558587120	chr16:48505089-48505090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113922384	chr16:48505101-48505102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150401047	chr16:48505127-48505128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561176590	chr16:48505191-48505192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117939789	chr16:48505192-48505193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142867468	chr16:48505324-48505325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560482873	chr16:48505341-48505342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560471669	chr16:48505345-48505346	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs370044088	chr16:48505347-48505348	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs532564096	chr16:48505407-48505408	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs368658307	chr16:48505438-48505439	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs16946199	chr16:48505503-48505504	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563040558	chr16:48505512-48505513	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs527554041	chr16:48505517-48505518	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs532074645	chr16:48505533-48505534	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs80066069	chr16:48505550-48505551	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs115399142	chr16:48505617-48505618	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs535916812	chr16:48505630-48505631	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs111344996	chr16:48505633-48505634	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs147423078	chr16:48505662-48505663	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs538250981	chr16:48505698-48505699	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs560907104	chr16:48505774-48505775	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531483273	chr16:48505835-48505836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549457042	chr16:48505849-48505850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191536510	chr16:48505853-48505854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7194822	chr16:48505890-48505891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149499028	chr16:48505898-48505899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538173846	chr16:48505905-48505906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554444987	chr16:48505910-48505911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574703992	chr16:48505921-48505922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116078836	chr16:48505956-48505957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560574463	chr16:48505966-48505967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541449153	chr16:48508301-48508302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13331347	chr16:48508312-48508313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375307843	chr16:48508381-48508382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559470125	chr16:48508383-48508384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139064915	chr16:48508402-48508403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186519637	chr16:48508502-48508503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547731660	chr16:48508608-48508609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190984874	chr16:48508695-48508696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557212898	chr16:48508712-48508713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572335018	chr16:48508743-48508744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539624990	chr16:48508758-48508759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542556832	chr16:48508826-48508827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77541318	chr16:48508827-48508828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182699124	chr16:48508830-48508831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573075618	chr16:48508877-48508878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Acute lymphoblastic leukemia	22237106	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
Acute lymphoblastic leukemia	21339820	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
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48505000-48506000	Enhancers	Placenta	Placenta
2	chr16:48508200-48512800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:48512000-48513600	Enhancers	Placenta	Placenta
4	chr16:48512000-48514000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr16:48512200-48513200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:48512400-48512600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:48512400-48513400	Enhancers	A549	lung
8	chr16:48512400-48513600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr16:48512400-48513600	Bivalent Enhancer	HepG2	liver
10	chr16:48512400-48514200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr16:48512600-48513400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr16:48512600-48513600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr16:48512600-48514200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:48512600-48514200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr16:48512800-48513200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr16:48512800-48513600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr16:48512800-48513800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:48512800-48515000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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