Variant report

Variant	nsv1046002
Chromosome Location	chr16:12482003-12510643
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12507545..12509858-chr16:12539210..12540734,2	K562	blood:
2	chr16:12496114..12497637-chr16:12507756..12510093,2	K562	blood:
3	chr16:12494822..12496351-chr16:12505081..12507751,2	K562	blood:
4	chr16:12493474..12495978-chr16:12497042..12499822,2	K562	blood:
5	chr16:12485157..12486773-chr16:12498470..12500396,2	K562	blood:
6	chr16:12480350..12482159-chr16:12485408..12486962,2	MCF-7	breast:
7	chr16:12480350..12482159-chr16:12485408..12486962,2	MCF-7	breast:
8	chr16:12470715..12473444-chr16:12481044..12482837,2	K562	blood:
9	chr16:12485157..12486773-chr16:12498470..12500396,2	K562	blood:
10	chr16:12485456..12487109-chr16:12487672..12489526,2	MCF-7	breast:
11	chr16:12485456..12487109-chr16:12487672..12489526,2	MCF-7	breast:
12	chr16:12479812..12482629-chr16:12484351..12486474,2	K562	blood:
13	chr16:12494822..12496351-chr16:12505081..12507751,2	K562	blood:
14	chr16:12496114..12497637-chr16:12507756..12510093,2	K562	blood:
15	chr16:12493474..12495978-chr16:12497042..12499822,2	K562	blood:
16	chr16:12479812..12482629-chr16:12484351..12486474,2	K562	blood:

No data

Extended variants
information (count: 1650 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138943803	chr16:12482013-12482014	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528666525	chr16:12482016-12482017	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142166763	chr16:12482026-12482027	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571650860	chr16:12482030-12482031	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145863086	chr16:12482053-12482054	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187000885	chr16:12482057-12482058	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543449732	chr16:12482072-12482073	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563423588	chr16:12482073-12482074	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535830268	chr16:12482081-12482082	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191036458	chr16:12482092-12482093	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183348065	chr16:12482147-12482148	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566566833	chr16:12482183-12482184	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149550667	chr16:12482221-12482222	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553026221	chr16:12482222-12482223	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558769021	chr16:12482229-12482230	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7204072	chr16:12482260-12482261	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs544515676	chr16:12482271-12482272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144233023	chr16:12482275-12482276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74011705	chr16:12482295-12482296	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542609833	chr16:12482355-12482356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186573374	chr16:12482363-12482364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528556926	chr16:12482407-12482408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112538506	chr16:12482415-12482416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557134027	chr16:12482437-12482438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542433859	chr16:12482443-12482444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551274593	chr16:12482468-12482469	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559092949	chr16:12482473-12482474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567812653	chr16:12482490-12482491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9929114	chr16:12482499-12482500	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546268444	chr16:12482533-12482534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566604862	chr16:12482543-12482544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568967711	chr16:12482547-12482548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189838606	chr16:12482602-12482603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6498282	chr16:12482660-12482661	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569088455	chr16:12482667-12482668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537603662	chr16:12482676-12482677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183235195	chr16:12482677-12482678	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116780083	chr16:12482715-12482716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536693313	chr16:12482725-12482726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552935264	chr16:12482727-12482728	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141460695	chr16:12482761-12482762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575294242	chr16:12482762-12482763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1641882	chr16:12482789-12482790	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs147491443	chr16:12482842-12482843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187556341	chr16:12482849-12482850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113680669	chr16:12482851-12482852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6498283	chr16:12482889-12482890	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577491517	chr16:12482893-12482894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530310775	chr16:12482901-12482902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139637723	chr16:12482944-12482945	Weak transcription Strong transcription	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:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	chr16:12457000-12492400	Weak transcription	Lung	lung
4	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr16:12457600-12491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
7	chr16:12461200-12490200	Weak transcription	GM12878-XiMat	blood
8	chr16:12470200-12497400	Weak transcription	Left Ventricle	heart
9	chr16:12471000-12486000	Weak transcription	HSMMtube	muscle
10	chr16:12471200-12494200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr16:12471400-12485800	Weak transcription	Colon Smooth Muscle	Colon
12	chr16:12471800-12493400	Weak transcription	Aorta	Aorta
13	chr16:12471800-12495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr16:12471800-12499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:12472200-12486000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:12473800-12484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:12473800-12493800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:12474000-12484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:12476000-12483200	Strong transcription	Primary B cells from cord blood	blood
20	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
21	chr16:12478600-12497400	Weak transcription	Pancreas	Pancrea
22	chr16:12478800-12483600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:12479200-12486600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:12479800-12482200	Enhancers	K562	blood
25	chr16:12480000-12484800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:12480200-12482400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:12480200-12491800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr16:12480200-12493600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:12480400-12483400	Weak transcription	Ovary	ovary
30	chr16:12480400-12485400	Weak transcription	Brain Hippocampus Middle	brain
31	chr16:12480600-12482800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:12480600-12484400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr16:12480600-12486400	Weak transcription	HSMM	muscle
34	chr16:12480800-12486200	Weak transcription	Fetal Muscle Leg	muscle
35	chr16:12480800-12487200	Weak transcription	Brain Angular Gyrus	brain
36	chr16:12480800-12491600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:12480800-12497400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr16:12481400-12484800	Weak transcription	Placenta	Placenta
39	chr16:12481600-12482200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr16:12481800-12496800	Weak transcription	Esophagus	oesophagus
41	chr16:12482000-12486400	Weak transcription	Primary T cells from cord blood	blood
42	chr16:12482000-12486600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr16:12482200-12484200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr16:12482800-12486000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:12483200-12484000	Weak transcription	Primary B cells from cord blood	blood
47	chr16:12483400-12486400	Enhancers	Ovary	ovary
48	chr16:12483600-12484600	Enhancers	Fetal Stomach	stomach
49	chr16:12483600-12485200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:12483800-12484400	Enhancers	Fetal Brain Male	brain

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