Variant report

Variant	nsv1039590
Chromosome Location	chr16:12237623-12279574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12267980..12269681-chr16:12271313..12273079,2	K562	blood:
2	chr16:12253223..12255934-chr16:12258590..12260441,2	K562	blood:
3	chr16:12270577..12272418-chr16:12280264..12282232,2	MCF-7	breast:
4	chr16:12273579..12276084-chr16:12279660..12281295,2	MCF-7	breast:
5	chr16:12272777..12275481-chr16:12278780..12280822,3	MCF-7	breast:
6	chr16:12235799..12238230-chr16:12240005..12241977,2	MCF-7	breast:
7	chr16:12240782..12243525-chr16:12245349..12247044,3	K562	blood:
8	chr16:12270213..12273717-chr16:12274051..12277588,3	K562	blood:
9	chr16:12264911..12267612-chr16:12276958..12279714,2	K562	blood:
10	chr16:12235977..12239654-chr16:12243100..12246222,3	K562	blood:
11	chr16:12264911..12267612-chr16:12276958..12279714,2	K562	blood:
12	chr16:12241354..12243525-chr16:12245349..12247031,2	K562	blood:
13	chr16:12253223..12255934-chr16:12258590..12260441,2	K562	blood:
14	chr16:12260496..12262911-chr16:12270695..12272888,2	K562	blood:
15	chr16:12235799..12238230-chr16:12240005..12241977,2	MCF-7	breast:
16	chr16:12270213..12273717-chr16:12274051..12277588,3	K562	blood:
17	chr16:12241354..12243525-chr16:12245349..12247031,2	K562	blood:
18	chr16:12235977..12239654-chr16:12243100..12246222,3	K562	blood:
19	chr16:12263177..12264784-chr16:12265317..12268165,2	MCF-7	breast:
20	chr16:12267980..12269681-chr16:12271313..12273079,2	K562	blood:
21	chr16:12231008..12232542-chr16:12255971..12258594,2	K562	blood:
22	chr16:12240782..12243525-chr16:12245349..12247044,3	K562	blood:
23	chr16:12263177..12264784-chr16:12265317..12268165,2	MCF-7	breast:
24	chr16:12236133..12238164-chr16:12283683..12286173,2	MCF-7	breast:
25	chr16:12260496..12262911-chr16:12270695..12272888,2	K562	blood:
26	chr16:12272777..12275481-chr16:12278780..12280822,3	MCF-7	breast:
27	chr16:12251094..12253122-chr16:12351083..12352799,2	MCF-7	breast:

No data

Extended variants
information (count: 2129 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2129 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1703515	chr16:12237623-12237624	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149657859	chr16:12237660-12237661	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531090656	chr16:12237710-12237711	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183592566	chr16:12237735-12237736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374208659	chr16:12237741-12237742	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34098770	chr16:12237812-12237813	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576341607	chr16:12237813-12237814	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55693041	chr16:12237834-12237835	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574966354	chr16:12237837-12237838	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546579960	chr16:12237866-12237867	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566419513	chr16:12237872-12237873	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538744666	chr16:12237926-12237927	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145648493	chr16:12237976-12237977	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148477383	chr16:12237994-12237995	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142637150	chr16:12238000-12238001	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537157636	chr16:12238007-12238008	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs350270	chr16:12238022-12238023	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186878426	chr16:12238035-12238036	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146485002	chr16:12238038-12238039	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140959309	chr16:12238145-12238146	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571736975	chr16:12238168-12238169	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57198466	chr16:12238169-12238170	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145699060	chr16:12238270-12238271	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531055538	chr16:12238291-12238292	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560147757	chr16:12238333-12238334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117518000	chr16:12238334-12238335	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530447126	chr16:12238343-12238344	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146566019	chr16:12238347-12238348	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs350269	chr16:12238360-12238361	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552297245	chr16:12238406-12238407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191396986	chr16:12238423-12238424	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537999979	chr16:12238457-12238458	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548407529	chr16:12238474-12238475	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563540694	chr16:12238499-12238500	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568332939	chr16:12238529-12238530	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534110309	chr16:12238547-12238548	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553076612	chr16:12238558-12238559	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367891115	chr16:12238560-12238561	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12599107	chr16:12238602-12238603	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs9936307	chr16:12238607-12238608	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558665302	chr16:12238641-12238642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575340261	chr16:12238723-12238724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111339715	chr16:12238724-12238725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111887632	chr16:12238739-12238740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182810031	chr16:12238742-12238743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138968355	chr16:12238767-12238768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112607316	chr16:12238782-12238783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs350268	chr16:12238795-12238796	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111574704	chr16:12238845-12238846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552211801	chr16:12238873-12238874	Weak transcription Strong 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:1031 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12213800-12255400	Weak transcription	Gastric	stomach
2	chr16:12215400-12241600	Weak transcription	NH-A	brain
3	chr16:12217800-12241800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:12218600-12241200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr16:12218800-12241000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:12221600-12241600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:12222000-12240800	Weak transcription	Brain Anterior Caudate	brain
8	chr16:12227600-12247000	Weak transcription	Colon Smooth Muscle	Colon
9	chr16:12228600-12239600	Weak transcription	HSMMtube	muscle
10	chr16:12228600-12240800	Weak transcription	HSMM	muscle
11	chr16:12228600-12241400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:12228600-12243600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:12228800-12239800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr16:12228800-12240800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:12229000-12249000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:12229200-12241000	Weak transcription	Fetal Kidney	kidney
17	chr16:12229400-12240800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:12229400-12241000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:12229400-12241200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:12229400-12242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:12229400-12248000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:12229400-12250600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:12229800-12241400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:12229800-12241400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:12229800-12244400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:12229800-12251400	Weak transcription	NHEK	skin
27	chr16:12229800-12253600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:12230000-12240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:12230000-12245600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr16:12230200-12241200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr16:12230200-12241800	Weak transcription	Esophagus	oesophagus
32	chr16:12230200-12242000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr16:12230200-12256200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr16:12230400-12239800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr16:12230600-12240800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr16:12231400-12241600	Weak transcription	Psoas Muscle	Psoas
37	chr16:12231400-12251000	Weak transcription	Ovary	ovary
38	chr16:12231400-12268000	Weak transcription	Pancreas	Pancrea
39	chr16:12231800-12241000	Weak transcription	Fetal Brain Female	brain
40	chr16:12232000-12239800	Weak transcription	Fetal Muscle Leg	muscle
41	chr16:12232000-12241000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:12232000-12248600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:12233400-12241000	Weak transcription	Adipose Nuclei	Adipose
44	chr16:12233600-12241200	Weak transcription	Thymus	Thymus
45	chr16:12233600-12241400	Weak transcription	Fetal Thymus	thymus
46	chr16:12233600-12241400	Weak transcription	Spleen	Spleen
47	chr16:12233600-12251000	Weak transcription	NHDF-Ad	bronchial
48	chr16:12233800-12240800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr16:12234600-12241200	Weak transcription	Fetal Stomach	stomach
50	chr16:12234600-12241400	Weak transcription	Placenta	Placenta

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