Variant report

Variant	esv3527463
Chromosome Location	chr16:72089965-72094865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

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	chr16:72094196-72094359	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:72094190-72094195	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:72094799-72094999	K562	blood:	n/a	n/a
5	POLR2A	chr16:72091245-72091359	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:72094771-72094866	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr16:72090991-72091190	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:72089814-72090110	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:72090112-72090134	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:72094509-72095604	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:72090540-72090552	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72088867..72091285-chr16:72125547..72127887,2	K562	blood:
2	chr16:72087766..72090367-chr16:72125547..72128434,2	K562	blood:
3	chr16:72093537..72095716-chr16:72125964..72128665,2	MCF-7	breast:

No data

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

Extended variants
information (count: 247 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:247 , 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	rs369865416	chr16:72090004-72090005	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs371455169	chr16:72090018-72090019	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs545085900	chr16:72090026-72090027	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs569061357	chr16:72090042-72090043	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs375493428	chr16:72090050-72090051	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs78413891	chr16:72090052-72090053	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs200841829	chr16:72090055-72090056	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs192501772	chr16:72090056-72090057	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs111523298	chr16:72090057-72090058	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs370158233	chr16:72090060-72090061	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs372601533	chr16:72090061-72090062	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs199564947	chr16:72090062-72090063	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200346377	chr16:72090073-72090074	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375437797	chr16:72090079-72090080	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368400005	chr16:72090082-72090083	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs146094567	chr16:72090085-72090086	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs202238563	chr16:72090095-72090096	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs140113015	chr16:72090115-72090116	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375280570	chr16:72090120-72090121	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs367969618	chr16:72090131-72090132	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201557537	chr16:72090132-72090133	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113463970	chr16:72090139-72090140	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112740159	chr16:72090143-72090144	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs113095724	chr16:72090145-72090146	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200356143	chr16:72090161-72090162	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569836243	chr16:72090163-72090164	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs374879127	chr16:72090169-72090170	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs77507186	chr16:72090177-72090178	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183338750	chr16:72090186-72090187	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376654371	chr16:72090190-72090191	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs143823250	chr16:72090207-72090208	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553402168	chr16:72090225-72090226	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs72487946	chr16:72090235-72090236	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs539258893	chr16:72090238-72090239	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs543430640	chr16:72090244-72090245	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557073015	chr16:72090282-72090283	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs575445813	chr16:72090336-72090337	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs542635169	chr16:72090377-72090378	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560985803	chr16:72090400-72090401	Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572753182	chr16:72090410-72090411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs369571464	chr16:72090434-72090435	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs371786946	chr16:72090450-72090451	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201773535	chr16:72090452-72090453	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11550483	chr16:72090460-72090461	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373168016	chr16:72090515-72090516	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532145948	chr16:72090625-72090626	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs35461039	chr16:72090626-72090627	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs577584801	chr16:72090666-72090667	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs112957470	chr16:72090685-72090686	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs530949434	chr16:72090689-72090690	Weak transcription	Chromatin interactive region	2 gene(s)	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:70 , 50 per page) page: 1 2

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	chr16:72078000-72090000	Weak transcription	Gastric	stomach
10	chr16:72078000-72100800	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:72078000-72103200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:72078200-72095600	Weak transcription	Brain Anterior Caudate	brain
13	chr16:72078200-72105200	Weak transcription	Brain Angular Gyrus	brain
14	chr16:72078400-72098400	Weak transcription	Primary T cells from cord blood	blood
15	chr16:72078400-72105400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:72078400-72108000	Weak transcription	Aorta	Aorta
17	chr16:72084200-72090200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr16:72084600-72106800	Weak transcription	Psoas Muscle	Psoas
19	chr16:72084800-72098200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:72087800-72090200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr16:72088400-72098400	Weak transcription	Adipose Nuclei	Adipose
22	chr16:72089000-72096200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:72089400-72090000	Enhancers	Primary B cells from cord blood	blood
24	chr16:72089400-72090200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:72089600-72090000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr16:72089600-72090200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:72089600-72090400	Transcr. at gene 5' and 3'	Liver	Liver
28	chr16:72089800-72090000	Flanking Active TSS	HepG2	liver
29	chr16:72089800-72090200	ZNF genes & repeats	Lung	lung
30	chr16:72090000-72090200	Genic enhancers	Gastric	stomach
31	chr16:72090000-72090200	Enhancers	HepG2	liver
32	chr16:72090000-72090200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr16:72090000-72107600	Weak transcription	Primary B cells from cord blood	blood
34	chr16:72090200-72090400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr16:72090200-72091000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:72090200-72092800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:72090200-72092800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr16:72090200-72094200	Weak transcription	HepG2	liver
39	chr16:72090200-72094200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr16:72090200-72107600	Weak transcription	Gastric	stomach
41	chr16:72090200-72118400	Weak transcription	Lung	lung
42	chr16:72090400-72091400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr16:72090400-72092800	Weak transcription	Liver	Liver
44	chr16:72091400-72091600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr16:72091600-72091800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
46	chr16:72091800-72092800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr16:72092800-72093000	Enhancers	Spleen	Spleen
48	chr16:72092800-72093200	Active TSS	Liver	Liver
49	chr16:72092800-72094400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr16:72092800-72094600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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