Variant report

Variant	nsv514812
Chromosome Location	chr16:72090387-72093795
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	chr16:72093084-72093180	Lung_OC	lung:	n/a	n/a
2	POLR2A	chr16:72091245-72091359	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:72090991-72091190	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:72090540-72090552	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72088867..72091285-chr16:72125547..72127887,2	K562	blood:
2	chr16:72093537..72095716-chr16:72125964..72128665,2	MCF-7	breast:

Variant related genes	Relation type
HPR	TF binding region
ENSG00000140830	chromatin interactions
ENSG00000140829	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560985803	chr16:72090400-72090401	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs572753182	chr16:72090410-72090411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs369571464	chr16:72090434-72090435	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371786946	chr16:72090450-72090451	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201773535	chr16:72090452-72090453	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs11550483	chr16:72090460-72090461	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373168016	chr16:72090515-72090516	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs532145948	chr16:72090625-72090626	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35461039	chr16:72090626-72090627	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs577584801	chr16:72090666-72090667	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112957470	chr16:72090685-72090686	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530949434	chr16:72090689-72090690	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201901042	chr16:72090781-72090782	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs113760890	chr16:72090785-72090786	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374154389	chr16:72090841-72090842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370269924	chr16:72090934-72090935	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs651242	chr16:72091054-72091055	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs397777668	chr16:72091071-72091072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34812526	chr16:72091102-72091103	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs74621317	chr16:72091103-72091104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35221786	chr16:72091142-72091143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs190194937	chr16:72091156-72091157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs576512537	chr16:72091162-72091163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs571999889	chr16:72091168-72091169	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs539221423	chr16:72091222-72091223	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs557628291	chr16:72091238-72091239	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568971225	chr16:72091240-72091241	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536297910	chr16:72091245-72091246	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs554377470	chr16:72091246-72091247	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs137853233	chr16:72091314-72091315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572762019	chr16:72091405-72091406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539869192	chr16:72091412-72091413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558406500	chr16:72091419-72091420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576759586	chr16:72091525-72091526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552803782	chr16:72091529-72091530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543990672	chr16:72091536-72091537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112786382	chr16:72091541-72091542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78760807	chr16:72091543-72091544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74697591	chr16:72091565-72091566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573104445	chr16:72091568-72091569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529850971	chr16:72091569-72091570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2550042	chr16:72091593-72091594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543075405	chr16:72091597-72091598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190554855	chr16:72091602-72091603	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2550041	chr16:72091614-72091615	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561249266	chr16:72091636-72091637	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs664134	chr16:72091648-72091649	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs2259205	chr16:72091808-72091809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2259204	chr16:72091819-72091820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546714118	chr16:72091869-72091870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Autism	22495311	CNVD
Wilms tumour	21544195	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72060200-72095600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
3	chr16:72076200-72098200	Weak transcription	Fetal Heart	heart
4	chr16:72076600-72092400	Weak transcription	Left Ventricle	heart
5	chr16:72077000-72107400	Weak transcription	Right Ventricle	heart
6	chr16:72077400-72102400	Weak transcription	Brain Substantia Nigra	brain
7	chr16:72077400-72107400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr16:72077600-72107400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr16:72078000-72100800	Weak transcription	Brain Hippocampus Middle	brain
10	chr16:72078000-72103200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr16:72078200-72095600	Weak transcription	Brain Anterior Caudate	brain
12	chr16:72078200-72105200	Weak transcription	Brain Angular Gyrus	brain
13	chr16:72078400-72098400	Weak transcription	Primary T cells from cord blood	blood
14	chr16:72078400-72105400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:72078400-72108000	Weak transcription	Aorta	Aorta
16	chr16:72084600-72106800	Weak transcription	Psoas Muscle	Psoas
17	chr16:72084800-72098200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:72088400-72098400	Weak transcription	Adipose Nuclei	Adipose
19	chr16:72089000-72096200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:72089600-72090400	Transcr. at gene 5' and 3'	Liver	Liver
21	chr16:72090000-72107600	Weak transcription	Primary B cells from cord blood	blood
22	chr16:72090200-72090400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr16:72090200-72091000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:72090200-72092800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:72090200-72092800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr16:72090200-72094200	Weak transcription	HepG2	liver
27	chr16:72090200-72094200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr16:72090200-72107600	Weak transcription	Gastric	stomach
29	chr16:72090200-72118400	Weak transcription	Lung	lung
30	chr16:72090400-72091400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr16:72090400-72092800	Weak transcription	Liver	Liver
32	chr16:72091400-72091600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr16:72091600-72091800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
34	chr16:72091800-72092800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr16:72092800-72093000	Enhancers	Spleen	Spleen
36	chr16:72092800-72093200	Active TSS	Liver	Liver
37	chr16:72092800-72094400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr16:72092800-72094600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:72092800-72094800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr16:72093000-72093200	Enhancers	Fetal Muscle Trunk	muscle
41	chr16:72093000-72094200	Weak transcription	Spleen	Spleen
42	chr16:72093200-72097200	Weak transcription	Liver	Liver
43	chr16:72093200-72118000	Weak transcription	Fetal Muscle Trunk	muscle

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