Variant report

Variant	esv3394654
Chromosome Location	chr16:12106501-12108749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141631891	chr16:12106510-12106511	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576593324	chr16:12106542-12106543	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537794270	chr16:12106623-12106624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572020900	chr16:12106630-12106631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556927478	chr16:12106653-12106654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573706168	chr16:12106713-12106714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150499277	chr16:12106751-12106752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75560353	chr16:12106765-12106766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573323241	chr16:12106766-12106767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553729684	chr16:12106807-12106808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565367622	chr16:12106815-12106816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560959338	chr16:12106840-12106841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531230846	chr16:12106852-12106853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188022088	chr16:12106854-12106855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560828284	chr16:12106885-12106886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535175115	chr16:12106895-12106896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193092255	chr16:12106898-12106899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546342161	chr16:12106936-12106937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566545419	chr16:12106940-12106941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77416511	chr16:12106975-12106976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552344689	chr16:12106989-12106990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369636884	chr16:12107002-12107003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537705812	chr16:12107025-12107026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115863800	chr16:12107035-12107036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62037702	chr16:12107062-12107063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs377592268	chr16:12107063-12107064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553127641	chr16:12107120-12107121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571907769	chr16:12107139-12107140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549879472	chr16:12107142-12107143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140627677	chr16:12107149-12107150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373708416	chr16:12107185-12107186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545221104	chr16:12107238-12107239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559188437	chr16:12107243-12107244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs386789062	chr16:12107270-12107271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544875114	chr16:12107271-12107272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368329057	chr16:12107275-12107276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185788707	chr16:12107334-12107335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188871826	chr16:12107339-12107340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199497475	chr16:12107340-12107341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575099806	chr16:12107341-12107342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564156499	chr16:12107346-12107347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs66491414	chr16:12107358-12107359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375736760	chr16:12107359-12107360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181405885	chr16:12107398-12107399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530450135	chr16:12107463-12107464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540201429	chr16:12107531-12107532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184403325	chr16:12107533-12107534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577984473	chr16:12107543-12107544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532225151	chr16:12107561-12107562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551995470	chr16:12107583-12107584	Weak transcription	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:12071800-12140200	Weak transcription	Fetal Intestine Small	intestine
3	chr16:12079600-12109600	Weak transcription	Gastric	stomach
4	chr16:12085400-12118200	Weak transcription	Esophagus	oesophagus
5	chr16:12088600-12109200	Weak transcription	Fetal Kidney	kidney
6	chr16:12088600-12110000	Weak transcription	NH-A	brain
7	chr16:12088800-12106600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:12088800-12108200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr16:12088800-12115400	Weak transcription	Placenta	Placenta
10	chr16:12092400-12110200	Weak transcription	NHEK	skin
11	chr16:12092600-12107800	Weak transcription	Liver	Liver
12	chr16:12094200-12110000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:12096800-12110000	Weak transcription	Osteobl	bone
14	chr16:12096800-12111800	Weak transcription	Ovary	ovary
15	chr16:12097000-12107800	Weak transcription	Fetal Lung	lung
16	chr16:12097000-12109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:12097200-12107800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr16:12097600-12110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:12098400-12136000	Weak transcription	Fetal Stomach	stomach
20	chr16:12098600-12109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:12098600-12118200	Weak transcription	Pancreas	Pancrea
22	chr16:12099000-12109400	Weak transcription	Brain Germinal Matrix	brain
23	chr16:12099400-12108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:12099400-12118400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:12099600-12111800	Weak transcription	Fetal Muscle Leg	muscle
26	chr16:12099600-12112600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:12099600-12135200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr16:12099600-12141200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr16:12101400-12110200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:12101800-12110000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:12101800-12111600	Weak transcription	HSMMtube	muscle
32	chr16:12101800-12121400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr16:12101800-12123600	Weak transcription	Lung	lung
34	chr16:12101800-12129800	Weak transcription	Aorta	Aorta
35	chr16:12102000-12124200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:12104200-12107400	Enhancers	Primary B cells from peripheral blood	blood
37	chr16:12104200-12111600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr16:12104400-12109800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:12104600-12109400	Weak transcription	Left Ventricle	heart
40	chr16:12104600-12110600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:12104600-12116400	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:12104800-12110200	Weak transcription	NHLF	lung
43	chr16:12105000-12109800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:12105000-12110200	Weak transcription	GM12878-XiMat	blood
45	chr16:12105000-12120600	Weak transcription	Brain Substantia Nigra	brain
46	chr16:12105200-12106600	Genic enhancers	Primary B cells from cord blood	blood
47	chr16:12105200-12107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:12105200-12108000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr16:12105200-12110200	Weak transcription	NHDF-Ad	bronchial
50	chr16:12105200-12142200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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