Variant report

Variant	esv2522454
Chromosome Location	chr16:12208594-12208596
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	chr16:12207504..12209871-chr16:12211621..12214983,3	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 71 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554731684	chr16:12208594-12208595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12184400-12231200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:12186800-12213400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:12189800-12209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:12189800-12220400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr16:12190000-12220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:12190000-12220400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr16:12190200-12210600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:12190800-12210600	Weak transcription	Pancreas	Pancrea
9	chr16:12191200-12223200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:12191400-12213600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr16:12192000-12213800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:12192000-12214600	Weak transcription	Right Atrium	heart
13	chr16:12192400-12210400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:12192400-12213200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:12192400-12213200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:12192800-12213600	Weak transcription	Adipose Nuclei	Adipose
17	chr16:12194000-12212600	Weak transcription	Ovary	ovary
18	chr16:12194000-12213000	Weak transcription	Right Ventricle	heart
19	chr16:12194000-12215200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:12194200-12210600	Weak transcription	NHEK	skin
21	chr16:12198200-12227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:12200200-12220200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:12200400-12209200	Weak transcription	Gastric	stomach
24	chr16:12200400-12210600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:12200400-12210600	Weak transcription	Aorta	Aorta
26	chr16:12200600-12210400	Weak transcription	Lung	lung
27	chr16:12200600-12213000	Weak transcription	Fetal Heart	heart
28	chr16:12200600-12215400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:12201000-12209200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:12201000-12210400	Weak transcription	Thymus	Thymus
31	chr16:12202000-12209400	Weak transcription	GM12878-XiMat	blood
32	chr16:12204800-12222000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr16:12205400-12210600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:12205400-12210600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr16:12205400-12213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr16:12205800-12213600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr16:12206000-12210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:12206200-12208800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr16:12206400-12210200	Weak transcription	Fetal Stomach	stomach
40	chr16:12206800-12212600	Weak transcription	HepG2	liver
41	chr16:12207200-12213000	Weak transcription	Placenta	Placenta
42	chr16:12207200-12218400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr16:12207400-12209800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr16:12207600-12209400	Enhancers	Esophagus	oesophagus
45	chr16:12207600-12211600	Strong transcription	Primary B cells from cord blood	blood
46	chr16:12207800-12210600	Weak transcription	Fetal Brain Male	brain
47	chr16:12207800-12210600	Weak transcription	Spleen	Spleen
48	chr16:12208000-12210800	Weak transcription	Fetal Kidney	kidney
49	chr16:12208000-12221200	Weak transcription	Brain Substantia Nigra	brain
50	chr16:12208200-12210600	Weak transcription	Primary T cells from cord blood	blood

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