Variant report

Variant	esv3377322
Chromosome Location	chr16:12473076-12475624
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	chr16:12470715..12473444-chr16:12481044..12482837,2	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143203018	chr16:12473106-12473107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148187655	chr16:12473122-12473123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549899089	chr16:12473140-12473141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529935405	chr16:12473151-12473152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575548456	chr16:12473176-12473177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368926196	chr16:12473191-12473192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375775440	chr16:12473203-12473204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188562561	chr16:12473233-12473234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575251344	chr16:12473239-12473240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544462925	chr16:12473248-12473249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79713265	chr16:12473259-12473260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192990371	chr16:12473260-12473261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142709616	chr16:12473277-12473278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4781218	chr16:12473280-12473281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528492229	chr16:12473394-12473395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370819681	chr16:12473399-12473400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147369942	chr16:12473418-12473419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371538261	chr16:12473420-12473421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531031920	chr16:12473469-12473470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73508077	chr16:12473538-12473539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149892646	chr16:12473554-12473555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184132724	chr16:12473558-12473559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143164826	chr16:12473560-12473561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116198271	chr16:12473573-12473574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377644802	chr16:12473590-12473591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371090682	chr16:12473600-12473601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13333034	chr16:12473646-12473647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558519042	chr16:12473674-12473675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62039997	chr16:12473680-12473681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537925259	chr16:12473681-12473682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187005311	chr16:12473683-12473684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574710166	chr16:12473684-12473685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540397727	chr16:12473692-12473693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191787536	chr16:12473709-12473710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183680744	chr16:12473710-12473711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189232030	chr16:12473720-12473721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182322000	chr16:12473735-12473736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532581557	chr16:12473739-12473740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545120796	chr16:12473817-12473818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185665994	chr16:12473823-12473824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530939454	chr16:12473830-12473831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115833820	chr16:12473833-12473834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13339535	chr16:12473853-12473854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530241413	chr16:12473870-12473871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546740174	chr16:12473875-12473876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567096024	chr16:12473897-12473898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113249237	chr16:12473927-12473928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190230671	chr16:12473942-12473943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568859698	chr16:12473954-12473955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150877186	chr16:12473969-12473970	Weak transcription Enhancers	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:43 , 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	chr16:12461000-12473400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:12461200-12490200	Weak transcription	GM12878-XiMat	blood
12	chr16:12468200-12475800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr16:12469000-12474000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:12469600-12473200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:12470200-12497400	Weak transcription	Left Ventricle	heart
16	chr16:12470800-12476000	Weak transcription	Primary B cells from cord blood	blood
17	chr16:12470800-12479200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:12471000-12480800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr16:12471000-12486000	Weak transcription	HSMMtube	muscle
20	chr16:12471200-12494200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:12471400-12485800	Weak transcription	Colon Smooth Muscle	Colon
22	chr16:12471600-12473200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:12471600-12478200	Weak transcription	Primary T cells from cord blood	blood
24	chr16:12471600-12479800	Weak transcription	Brain Anterior Caudate	brain
25	chr16:12471800-12473200	Weak transcription	Brain Substantia Nigra	brain
26	chr16:12471800-12493400	Weak transcription	Aorta	Aorta
27	chr16:12471800-12495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr16:12471800-12499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:12472000-12473600	Enhancers	Adipose Nuclei	Adipose
30	chr16:12472200-12486000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr16:12472800-12473800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:12472800-12473800	Enhancers	Brain Hippocampus Middle	brain
33	chr16:12472800-12479600	Weak transcription	Esophagus	oesophagus
34	chr16:12473000-12473600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:12473200-12473400	Enhancers	Brain Substantia Nigra	brain
36	chr16:12473200-12473800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:12473200-12474000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr16:12473400-12473800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:12473800-12479800	Weak transcription	Brain Hippocampus Middle	brain
40	chr16:12473800-12484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:12473800-12493800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:12474000-12478000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:12474000-12484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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