Variant report

Variant	esv2325276
Chromosome Location	chr16:48620780-48620781
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	chr16:48617180..48622769-chr16:48640703..48644827,6	MCF-7	breast:
2	chr16:48619120..48621788-chr16:48623609..48625934,2	K562	blood:

Variant related genes	Relation type
ENSG00000102921	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 67 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3848321	chr16:48620780-48620781	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79651566	chr16:48620781-48620782	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48595200-48624000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr16:48596000-48624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:48596800-48624400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr16:48605000-48630200	Weak transcription	Spleen	Spleen
5	chr16:48609800-48624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:48609800-48624200	Weak transcription	Fetal Thymus	thymus
7	chr16:48609800-48624400	Weak transcription	Thymus	Thymus
8	chr16:48611000-48624400	Weak transcription	Psoas Muscle	Psoas
9	chr16:48611000-48624400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr16:48611800-48626000	Weak transcription	Aorta	Aorta
11	chr16:48612200-48624200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:48612400-48621000	Weak transcription	Ovary	ovary
13	chr16:48612400-48624400	Weak transcription	Esophagus	oesophagus
14	chr16:48612400-48630200	Weak transcription	Gastric	stomach
15	chr16:48613200-48621000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:48615200-48624400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr16:48615600-48622600	Weak transcription	HUVEC	blood vessel
18	chr16:48615600-48624400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:48615600-48624400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr16:48616400-48624400	Weak transcription	HepG2	liver
21	chr16:48616600-48624400	Weak transcription	Primary B cells from cord blood	blood
22	chr16:48617000-48624200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr16:48617600-48621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:48618000-48621000	Weak transcription	Left Ventricle	heart
25	chr16:48618000-48623400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:48618000-48624200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr16:48618000-48624400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:48618000-48625000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:48618000-48631600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:48618200-48621000	Weak transcription	Right Ventricle	heart
31	chr16:48618200-48622400	Weak transcription	Dnd41	blood
32	chr16:48618200-48622600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:48618200-48624000	Weak transcription	Right Atrium	heart
34	chr16:48618200-48624200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:48618200-48624400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:48618200-48626000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr16:48618200-48630400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:48618200-48640400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr16:48618400-48620800	Weak transcription	Adipose Nuclei	Adipose
40	chr16:48618400-48621000	Weak transcription	Fetal Lung	lung
41	chr16:48618600-48624400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:48618600-48624400	Weak transcription	HSMM	muscle
43	chr16:48618800-48625800	Weak transcription	Brain Anterior Caudate	brain
44	chr16:48619000-48624400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr16:48619000-48624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:48619000-48626800	Weak transcription	Osteobl	bone
47	chr16:48619200-48631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr16:48619600-48621000	Weak transcription	Pancreas	Pancrea
49	chr16:48619800-48621000	Weak transcription	Brain Angular Gyrus	brain
50	chr16:48619800-48622000	Enhancers	Primary T helper cells PMA-I stimulated	--

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