Variant report

Variant	nsv520000
Chromosome Location	chr16:12513797-12523161
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	chr16:12518273..12521008-chr16:12521973..12524305,2	MCF-7	breast:
2	chr16:12518273..12521008-chr16:12521973..12524305,2	MCF-7	breast:

Extended variants
information (count: 521 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7201310	chr16:12513797-12513798	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575925718	chr16:12513800-12513801	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541941741	chr16:12513820-12513821	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372765609	chr16:12513839-12513840	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527352544	chr16:12513878-12513879	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs874567	chr16:12513936-12513937	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75289094	chr16:12513951-12513952	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533307830	chr16:12514004-12514005	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368342510	chr16:12514125-12514126	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371995018	chr16:12514146-12514147	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191071424	chr16:12514147-12514148	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569265544	chr16:12514178-12514179	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567685284	chr16:12514183-12514184	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535731353	chr16:12514186-12514187	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542498951	chr16:12514189-12514190	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549583431	chr16:12514198-12514199	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548532767	chr16:12514212-12514213	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568461534	chr16:12514219-12514220	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140261538	chr16:12514238-12514239	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115884288	chr16:12514245-12514246	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547622453	chr16:12514267-12514268	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555816689	chr16:12514280-12514281	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183376798	chr16:12514290-12514291	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539771227	chr16:12514342-12514343	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556563757	chr16:12514356-12514357	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572419649	chr16:12514392-12514393	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187544610	chr16:12514397-12514398	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75312683	chr16:12514411-12514412	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541529615	chr16:12514424-12514425	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555297367	chr16:12514425-12514426	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572056816	chr16:12514430-12514431	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564432602	chr16:12514444-12514445	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557257251	chr16:12514446-12514447	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541118895	chr16:12514457-12514458	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538547601	chr16:12514460-12514461	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564321488	chr16:12514536-12514537	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577892297	chr16:12514541-12514542	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543776958	chr16:12514556-12514557	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11644239	chr16:12514575-12514576	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565953298	chr16:12514616-12514617	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148635354	chr16:12514623-12514624	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548299106	chr16:12514631-12514632	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562102863	chr16:12514658-12514659	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12446218	chr16:12514662-12514663	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112840962	chr16:12514683-12514684	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547462468	chr16:12514704-12514705	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570744704	chr16:12514713-12514714	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569154252	chr16:12514721-12514722	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544121156	chr16:12514743-12514744	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12446082	chr16:12514746-12514747	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	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
Myelofibrosis	22110671	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
2	chr16:12497800-12519600	Weak transcription	Brain Anterior Caudate	brain
3	chr16:12497800-12539800	Weak transcription	Left Ventricle	heart
4	chr16:12498000-12515400	Weak transcription	Pancreas	Pancrea
5	chr16:12498000-12518600	Weak transcription	Fetal Intestine Small	intestine
6	chr16:12498000-12541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr16:12498200-12517200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:12498400-12513800	Weak transcription	Aorta	Aorta
9	chr16:12498400-12514200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:12498400-12514800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr16:12498400-12516200	Weak transcription	Fetal Stomach	stomach
12	chr16:12498400-12518800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:12498400-12523200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:12498400-12523600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:12498400-12523800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr16:12498400-12564600	Weak transcription	Esophagus	oesophagus
17	chr16:12498800-12516600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:12498800-12523800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr16:12499200-12518200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr16:12499400-12517200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr16:12499400-12527000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:12501800-12514000	Weak transcription	NHEK	skin
23	chr16:12501800-12514200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:12501800-12515600	Weak transcription	NHDF-Ad	bronchial
25	chr16:12501800-12519600	Weak transcription	Brain Hippocampus Middle	brain
26	chr16:12502000-12516000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:12502200-12515400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:12506200-12529600	Weak transcription	Gastric	stomach
29	chr16:12507000-12514400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:12507400-12515400	Weak transcription	HSMMtube	muscle
31	chr16:12507600-12519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:12507600-12527600	Weak transcription	GM12878-XiMat	blood
33	chr16:12507800-12515600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr16:12507800-12519000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:12508800-12523200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr16:12509000-12516800	Enhancers	Placenta	Placenta
37	chr16:12510200-12515600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:12510200-12523000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr16:12510800-12514600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:12510800-12514800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr16:12510800-12517000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:12511200-12515800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr16:12511400-12519600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:12511400-12552000	Weak transcription	Lung	lung
45	chr16:12511600-12514000	Enhancers	Fetal Muscle Leg	muscle
46	chr16:12511600-12527600	Weak transcription	Spleen	Spleen
47	chr16:12512000-12519600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr16:12512800-12513800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr16:12512800-12514000	Enhancers	Fetal Muscle Trunk	muscle
50	chr16:12512800-12515600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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