Variant report

Variant	esv3442255
Chromosome Location	chr16:12487225-12487283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536291401	chr16:12487231-12487232	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552925058	chr16:12487232-12487233	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566655210	chr16:12487233-12487234	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374396528	chr16:12487238-12487239	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140442108	chr16:12487239-12487240	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377747422	chr16:12487247-12487248	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374651159	chr16:12487249-12487250	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367680630	chr16:12487252-12487253	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8063895	chr16:12487253-12487254	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370890352	chr16:12487255-12487256	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558965884	chr16:12487265-12487266	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11645049	chr16:12487269-12487270	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs59088050	chr16:12487272-12487273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8049594	chr16:12487273-12487274	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199524277	chr16:12487277-12487278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12444800-12491400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr16:12457000-12492400	Weak transcription	Lung	lung
3	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr16:12457600-12491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
6	chr16:12461200-12490200	Weak transcription	GM12878-XiMat	blood
7	chr16:12470200-12497400	Weak transcription	Left Ventricle	heart
8	chr16:12471200-12494200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr16:12471800-12493400	Weak transcription	Aorta	Aorta
10	chr16:12471800-12495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr16:12471800-12499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:12473800-12493800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
14	chr16:12478600-12497400	Weak transcription	Pancreas	Pancrea
15	chr16:12480200-12491800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr16:12480200-12493600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:12480800-12491600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:12480800-12497400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr16:12481800-12496800	Weak transcription	Esophagus	oesophagus
20	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:12484000-12487600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:12484400-12487600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:12484600-12493200	Weak transcription	Fetal Stomach	stomach
24	chr16:12484600-12497200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr16:12485000-12493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:12485000-12493600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:12485000-12497000	Weak transcription	NHLF	lung
28	chr16:12485000-12497400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr16:12485000-12501000	Weak transcription	NHEK	skin
30	chr16:12485200-12489200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:12485200-12491600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:12485200-12492400	Weak transcription	Osteobl	bone
33	chr16:12485400-12494400	Strong transcription	Primary B cells from cord blood	blood
34	chr16:12485800-12491400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr16:12485800-12492200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr16:12486000-12487400	Enhancers	Brain Substantia Nigra	brain
37	chr16:12486000-12487600	Enhancers	HSMMtube	muscle
38	chr16:12486000-12487800	Enhancers	Psoas Muscle	Psoas
39	chr16:12486200-12487400	Enhancers	Fetal Muscle Leg	muscle
40	chr16:12486200-12487600	Enhancers	Adipose Nuclei	Adipose
41	chr16:12486200-12487600	Enhancers	NHDF-Ad	bronchial
42	chr16:12486200-12488000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr16:12486400-12487400	Weak transcription	Ovary	ovary
44	chr16:12486400-12488000	Strong transcription	Primary T cells from cord blood	blood
45	chr16:12486400-12497400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr16:12486600-12487400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr16:12486600-12487800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr16:12486600-12493800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr16:12486800-12491600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:12487000-12496400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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