Variant report

Variant	nsv1041381
Chromosome Location	chr16:12724989-12751796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12711260..12713112-chr16:12746469..12749358,2	K562	blood:
2	chr16:12720009..12721877-chr16:12746194..12749157,2	K562	blood:
3	chr16:12746437..12748373-chr16:12760171..12762458,2	MCF-7	breast:
4	chr16:12714846..12717275-chr16:12723498..12725575,2	K562	blood:
5	chr16:12744489..12747276-chr16:12777571..12779537,2	K562	blood:

Extended variants
information (count: 1425 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1425 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs890881	chr16:12724989-12724990	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72481081	chr16:12725001-12725002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555061816	chr16:12725003-12725004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs890880	chr16:12725016-12725017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540946173	chr16:12725026-12725027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190492292	chr16:12725086-12725087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577384048	chr16:12725096-12725097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577281840	chr16:12725105-12725106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74713734	chr16:12725151-12725152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545914087	chr16:12725154-12725155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73522048	chr16:12725191-12725192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149735525	chr16:12725192-12725193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546247914	chr16:12725197-12725198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542249001	chr16:12725198-12725199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561930289	chr16:12725202-12725203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16960335	chr16:12725212-12725213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs202047432	chr16:12725218-12725219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571070404	chr16:12725249-12725250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533520355	chr16:12725250-12725251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549914407	chr16:12725267-12725268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569810805	chr16:12725271-12725272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144591644	chr16:12725314-12725315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555369204	chr16:12725321-12725322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565525553	chr16:12725333-12725334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377084885	chr16:12725355-12725356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181832183	chr16:12725359-12725360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557602102	chr16:12725378-12725379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577417722	chr16:12725379-12725380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186153231	chr16:12725381-12725382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372796815	chr16:12725387-12725388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576524171	chr16:12725410-12725411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs890879	chr16:12725435-12725436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115410215	chr16:12725441-12725442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527649421	chr16:12725454-12725455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148488682	chr16:12725473-12725474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs890878	chr16:12725489-12725490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145023438	chr16:12725497-12725498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550446593	chr16:12725513-12725514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570129269	chr16:12725525-12725526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529019720	chr16:12725573-12725574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190477768	chr16:12725586-12725587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370810056	chr16:12725591-12725592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs890877	chr16:12725619-12725620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73522052	chr16:12725697-12725698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373011803	chr16:12725700-12725701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578199141	chr16:12725713-12725714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142019902	chr16:12725751-12725752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556762232	chr16:12725768-12725769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545829472	chr16:12725779-12725780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542322729	chr16:12725785-12725786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12724400-12734800	Weak transcription	HepG2	liver
2	chr16:12724800-12725000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr16:12730800-12731200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr16:12730800-12731200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr16:12730800-12731400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:12730800-12731400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:12731000-12731200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:12731000-12733400	Enhancers	Placenta	Placenta
9	chr16:12732600-12733400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:12732800-12733000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr16:12732800-12733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:12733200-12733400	Enhancers	Osteobl	bone
13	chr16:12733400-12738000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:12734800-12735000	Enhancers	HepG2	liver
15	chr16:12735000-12735400	Weak transcription	HepG2	liver
16	chr16:12735400-12737800	Enhancers	HepG2	liver
17	chr16:12737000-12738800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:12737600-12737800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:12737600-12737800	Enhancers	Osteobl	bone
20	chr16:12737600-12738200	Enhancers	Brain Substantia Nigra	brain
21	chr16:12737600-12738400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr16:12737600-12738400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:12737600-12740200	Enhancers	HUVEC	blood vessel
24	chr16:12737800-12738000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:12737800-12738000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:12737800-12738200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:12737800-12738400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:12737800-12738400	Enhancers	Brain Hippocampus Middle	brain
29	chr16:12737800-12738600	Flanking Active TSS	Osteobl	bone
30	chr16:12737800-12738800	Flanking Active TSS	HepG2	liver
31	chr16:12738000-12738200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:12738000-12738800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:12738000-12738800	Enhancers	A549	lung
34	chr16:12738000-12739000	Enhancers	Liver	Liver
35	chr16:12738200-12738400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:12738200-12738400	Enhancers	HSMM	muscle
37	chr16:12738200-12738400	Enhancers	NH-A	brain
38	chr16:12738200-12738600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:12738200-12740200	Weak transcription	Brain Substantia Nigra	brain
40	chr16:12738400-12738600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:12738400-12739800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:12738400-12740000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:12738400-12740000	Weak transcription	NH-A	brain
44	chr16:12738400-12740200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr16:12738400-12740200	Weak transcription	Brain Hippocampus Middle	brain
46	chr16:12738600-12738800	Enhancers	Osteobl	bone
47	chr16:12738600-12739000	Enhancers	Placenta	Placenta
48	chr16:12738600-12740200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:12738600-12740400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:12738800-12739600	Enhancers	HepG2	liver

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