Variant report

Variant	esv3398863
Chromosome Location	chr16:12473901-12476249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113249237	chr16:12473927-12473928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190230671	chr16:12473942-12473943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568859698	chr16:12473954-12473955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150877186	chr16:12473969-12473970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568815965	chr16:12473976-12473977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537815746	chr16:12473983-12473984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554723337	chr16:12473990-12473991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574544395	chr16:12473994-12473995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533979798	chr16:12474009-12474010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138586641	chr16:12474016-12474017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181680016	chr16:12474019-12474020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577104495	chr16:12474021-12474022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185909628	chr16:12474041-12474042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559574889	chr16:12474067-12474068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62039998	chr16:12474088-12474089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs367765003	chr16:12474105-12474106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199891670	chr16:12474249-12474250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575252474	chr16:12474257-12474258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544160099	chr16:12474259-12474260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201358850	chr16:12474272-12474273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561048113	chr16:12474274-12474275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530129117	chr16:12474276-12474277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540508754	chr16:12474294-12474295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200993855	chr16:12474312-12474313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201653630	chr16:12474316-12474317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139381401	chr16:12474331-12474332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115950494	chr16:12474386-12474387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150058367	chr16:12474410-12474411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202101169	chr16:12474416-12474417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372216355	chr16:12474434-12474435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189930116	chr16:12474439-12474440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111209265	chr16:12474442-12474443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375533653	chr16:12474461-12474462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368291662	chr16:12474485-12474486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141240567	chr16:12474515-12474516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111209266	chr16:12474522-12474523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372000963	chr16:12474524-12474525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534053160	chr16:12474537-12474538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111218296	chr16:12474553-12474554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138650479	chr16:12474562-12474563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111063991	chr16:12474583-12474584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115689360	chr16:12474589-12474590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569540548	chr16:12474690-12474691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181272737	chr16:12474714-12474715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531345924	chr16:12474733-12474734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372490224	chr16:12474754-12474755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200395181	chr16:12474801-12474802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148045563	chr16:12474809-12474810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548162700	chr16:12474852-12474853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568208528	chr16:12474957-12474958	Weak 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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:12444800-12491400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr16:12453200-12479000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr16:12455600-12479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:12456800-12478600	Weak transcription	Ovary	ovary
6	chr16:12457000-12492400	Weak transcription	Lung	lung
7	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:12457600-12491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
10	chr16:12461200-12490200	Weak transcription	GM12878-XiMat	blood
11	chr16:12468200-12475800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr16:12469000-12474000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:12470200-12497400	Weak transcription	Left Ventricle	heart
14	chr16:12470800-12476000	Weak transcription	Primary B cells from cord blood	blood
15	chr16:12470800-12479200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:12471000-12480800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:12471000-12486000	Weak transcription	HSMMtube	muscle
18	chr16:12471200-12494200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr16:12471400-12485800	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:12471600-12478200	Weak transcription	Primary T cells from cord blood	blood
21	chr16:12471600-12479800	Weak transcription	Brain Anterior Caudate	brain
22	chr16:12471800-12493400	Weak transcription	Aorta	Aorta
23	chr16:12471800-12495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:12471800-12499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:12472200-12486000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr16:12472800-12479600	Weak transcription	Esophagus	oesophagus
27	chr16:12473200-12474000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:12473800-12479800	Weak transcription	Brain Hippocampus Middle	brain
29	chr16:12473800-12484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:12473800-12493800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:12474000-12478000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:12474000-12484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:12475800-12476000	Enhancers	Right Ventricle	heart
34	chr16:12475800-12477200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr16:12476000-12483200	Strong transcription	Primary B cells from cord blood	blood
36	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart

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