Variant report

Variant	esv3451831
Chromosome Location	chr16:47209265-47210440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47201430..47205164-chr16:47207074..47210552,4	K562	blood:
2	chr16:47203225..47205164-chr16:47207074..47209665,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560468099	chr16:47209319-47209320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527625047	chr16:47209475-47209476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560335670	chr16:47209535-47209536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143801484	chr16:47209611-47209612	Weak transcription Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs570655241	chr16:47209632-47209633	Weak transcription Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs138485384	chr16:47209680-47209681	Weak transcription Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549483329	chr16:47209705-47209706	Weak transcription Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs143944924	chr16:47209717-47209718	Weak transcription Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs558402594	chr16:47209721-47209722	Weak transcription Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs535088775	chr16:47209779-47209780	Weak transcription Strong transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs264329	chr16:47209822-47209823	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571942189	chr16:47209837-47209838	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534534942	chr16:47209890-47209891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558969745	chr16:47209891-47209892	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs577383138	chr16:47209903-47209904	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544791854	chr16:47209940-47209941	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs147298869	chr16:47209968-47209969	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574946866	chr16:47209984-47209985	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542334157	chr16:47210171-47210172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560520292	chr16:47210179-47210180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181618223	chr16:47210360-47210361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546116153	chr16:47210390-47210391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564193578	chr16:47210427-47210428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47178800-47211600	Weak transcription	Pancreas	Pancrea
2	chr16:47178800-47231400	Weak transcription	Psoas Muscle	Psoas
3	chr16:47178800-47296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:47186600-47231400	Weak transcription	Aorta	Aorta
5	chr16:47187400-47216200	Weak transcription	HepG2	liver
6	chr16:47187400-47216400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr16:47187800-47212200	Weak transcription	Thymus	Thymus
8	chr16:47187800-47223800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:47187800-47243800	Weak transcription	HSMM	muscle
10	chr16:47191200-47213200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:47191200-47221400	Weak transcription	K562	blood
12	chr16:47192000-47252000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr16:47192200-47214400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr16:47192400-47209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:47192400-47209600	Weak transcription	Ovary	ovary
16	chr16:47192400-47211400	Weak transcription	Spleen	Spleen
17	chr16:47192400-47213200	Weak transcription	Dnd41	blood
18	chr16:47192400-47215800	Weak transcription	Left Ventricle	heart
19	chr16:47192400-47218800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:47192400-47231800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr16:47194800-47231000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr16:47195400-47244200	Weak transcription	Liver	Liver
23	chr16:47195600-47209400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr16:47195800-47209800	Weak transcription	Primary B cells from cord blood	blood
25	chr16:47195800-47212800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:47196000-47209800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:47196000-47210200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:47208400-47210200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr16:47209400-47210200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr16:47209600-47209800	Active TSS	Gastric	stomach
31	chr16:47209600-47210000	ZNF genes & repeats	Ovary	ovary
32	chr16:47209600-47210200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:47209800-47210600	Strong transcription	Primary B cells from cord blood	blood
34	chr16:47209800-47232000	Weak transcription	Gastric	stomach
35	chr16:47210000-47222800	Weak transcription	Ovary	ovary
36	chr16:47210200-47213400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:47210200-47216200	Weak transcription	Monocytes-CD14+_RO01746	blood

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