Variant report

Variant	esv12165
Chromosome Location	chr16:83149311-83150129
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	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:
2	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7188901	chr16:83149327-83149328	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560477733	chr16:83149346-83149347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529196411	chr16:83149358-83149359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144045748	chr16:83149362-83149363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146443087	chr16:83149376-83149377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186399370	chr16:83149381-83149382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538129414	chr16:83149404-83149405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13331244	chr16:83149427-83149428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571627495	chr16:83149440-83149441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112361425	chr16:83149446-83149447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117705756	chr16:83149451-83149452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545319268	chr16:83149452-83149453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536502254	chr16:83149472-83149473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548725900	chr16:83149495-83149496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568705885	chr16:83149497-83149498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537428953	chr16:83149505-83149506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557864259	chr16:83149506-83149507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58400605	chr16:83149519-83149520	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534022894	chr16:83149553-83149554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140820678	chr16:83149556-83149557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574002391	chr16:83149565-83149566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539539141	chr16:83149569-83149570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562623580	chr16:83149571-83149572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143198975	chr16:83149574-83149575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545069273	chr16:83149581-83149582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367718335	chr16:83149622-83149623	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs58884264	chr16:83149645-83149646	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78529544	chr16:83149649-83149650	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs527738762	chr16:83149684-83149685	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs181925816	chr16:83149691-83149692	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs561118693	chr16:83149717-83149718	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs116369239	chr16:83149745-83149746	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs4077666	chr16:83149753-83149754	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs57128975	chr16:83149756-83149757	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77956595	chr16:83149794-83149795	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs551083582	chr16:83149813-83149814	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs118089094	chr16:83149854-83149855	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs55660225	chr16:83149861-83149862	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79205623	chr16:83149868-83149869	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs377607202	chr16:83149894-83149895	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs553477921	chr16:83149895-83149896	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs5008764	chr16:83149897-83149898	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs556466404	chr16:83149905-83149906	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs145453607	chr16:83149920-83149921	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs545394690	chr16:83149929-83149930	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs560399754	chr16:83149931-83149932	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs545893317	chr16:83149933-83149934	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs13336524	chr16:83149945-83149946	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs72798376	chr16:83149962-83149963	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs5008765	chr16:83149970-83149971	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83133600-83149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:83134600-83151800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:83136400-83157600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:83138000-83154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:83139600-83150000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:83140000-83153000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:83140000-83158400	Weak transcription	HMEC	breast
8	chr16:83140200-83158400	Weak transcription	NHEK	skin
9	chr16:83142200-83149600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:83142400-83153400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:83144200-83149600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:83144400-83153200	Weak transcription	HSMMtube	muscle
13	chr16:83147000-83151000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:83147200-83149400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr16:83147200-83151000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr16:83147600-83149600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr16:83147600-83149600	Weak transcription	Lung	lung
18	chr16:83147600-83149600	Weak transcription	Psoas Muscle	Psoas
19	chr16:83147600-83150000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:83147600-83150000	Weak transcription	Right Atrium	heart
21	chr16:83147600-83152000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:83147600-83157600	Weak transcription	Fetal Muscle Leg	muscle
23	chr16:83147600-83158800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr16:83148200-83149800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr16:83148400-83149400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr16:83148800-83149400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr16:83148800-83150200	Enhancers	Aorta	Aorta
28	chr16:83149000-83149600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:83149000-83150800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:83149200-83149600	Enhancers	HSMM	muscle
31	chr16:83149200-83149800	Enhancers	Left Ventricle	heart
32	chr16:83149200-83149800	Weak transcription	Osteobl	bone
33	chr16:83149200-83150200	Enhancers	Right Ventricle	heart
34	chr16:83149200-83150600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr16:83149200-83151000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:83149200-83152800	Enhancers	NHDF-Ad	bronchial
37	chr16:83149400-83150000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr16:83149400-83150200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr16:83149400-83150400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:83149600-83149800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:83149600-83149800	Enhancers	Psoas Muscle	Psoas
42	chr16:83149600-83150000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:83149600-83150000	Enhancers	Thymus	Thymus
44	chr16:83149600-83150000	Bivalent Enhancer	Dnd41	blood
45	chr16:83149600-83150200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:83149600-83150200	Enhancers	Gastric	stomach
47	chr16:83149600-83150200	Enhancers	Lung	lung
48	chr16:83149600-83150600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr16:83149600-83152600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:83149600-83158800	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links