Variant report

Variant	nsv516932
Chromosome Location	chr16:12363035-12363304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7191435	chr16:12363035-12363036	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552858084	chr16:12363037-12363038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7191442	chr16:12363047-12363048	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113647392	chr16:12363060-12363061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564829488	chr16:12363061-12363062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76508309	chr16:12363068-12363069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141651406	chr16:12363075-12363076	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113656833	chr16:12363077-12363078	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529332727	chr16:12363094-12363095	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16959100	chr16:12363105-12363106	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559641481	chr16:12363120-12363121	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373637950	chr16:12363134-12363135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77630035	chr16:12363181-12363182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367737264	chr16:12363201-12363202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552146271	chr16:12363237-12363238	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571969322	chr16:12363271-12363272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537073888	chr16:12363301-12363302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10500379	chr16:12363304-12363305	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12308000-12371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:12309800-12371200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr16:12323800-12373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:12330800-12373000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:12334600-12371800	Weak transcription	Adipose Nuclei	Adipose
7	chr16:12338200-12396200	Weak transcription	Thymus	Thymus
8	chr16:12347800-12395200	Weak transcription	Right Ventricle	heart
9	chr16:12348200-12371400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr16:12350200-12371600	Weak transcription	GM12878-XiMat	blood
11	chr16:12351200-12373000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:12351200-12382800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:12354800-12382800	Weak transcription	Gastric	stomach
14	chr16:12355000-12366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:12355200-12372000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:12356000-12390200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:12356400-12378000	Weak transcription	Spleen	Spleen
18	chr16:12356600-12371600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr16:12356600-12372800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:12356800-12364800	Weak transcription	Psoas Muscle	Psoas
21	chr16:12356800-12371800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:12356800-12373000	Weak transcription	Fetal Intestine Small	intestine
23	chr16:12356800-12373000	Weak transcription	Fetal Stomach	stomach
24	chr16:12357000-12365000	Weak transcription	Pancreas	Pancrea
25	chr16:12357200-12383000	Weak transcription	Esophagus	oesophagus
26	chr16:12357400-12370400	Weak transcription	Aorta	Aorta
27	chr16:12357400-12373000	Weak transcription	Liver	Liver
28	chr16:12358200-12364600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:12358600-12373200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:12359200-12377400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr16:12359400-12380800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:12359800-12418000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr16:12361200-12372600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr16:12361800-12365000	Strong transcription	Primary B cells from cord blood	blood
35	chr16:12361800-12383000	Weak transcription	Fetal Muscle Leg	muscle
36	chr16:12362000-12368600	Weak transcription	HepG2	liver
37	chr16:12362000-12374600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:12362000-12382600	Weak transcription	Placenta	Placenta
39	chr16:12362600-12363600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr16:12362800-12365400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr16:12362800-12370400	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links