Variant report

Variant	esv2761915
Chromosome Location	chr16:76782108-76874387
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:76844876..76847420-chr19:45599129..45600971,2	MCF-7	breast:
2	chr16:76817240..76820216-chr16:76820936..76823507,2	K562	blood:
3	chr16:76687186..76688106-chr16:76857078..76857671,2	MCF-7	breast:
4	chr16:76784883..76787638-chr16:76787899..76789936,2	MCF-7	breast:
5	chr16:76784883..76787638-chr16:76787899..76789936,2	MCF-7	breast:
6	chr16:76856883..76857419-chr16:77076804..77077643,2	MCF-7	breast:
7	chr16:76817240..76820216-chr16:76820936..76823507,2	K562	blood:
8	chr16:76846196..76848121-chr16:76848521..76851117,2	MCF-7	breast:
9	chr16:76846196..76848121-chr16:76848521..76851117,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-58C22.1.1-3	chr16:76803213-76803278	XLOC_011793
2	lnc-RP11-58C22.1.1-3	chr16:76806570-76806959	XLOC_011793

No data

Extended variants
information (count: 3249 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3249 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542526246	chr16:76782128-76782129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562382048	chr16:76782145-76782146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527250051	chr16:76782163-76782164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117034552	chr16:76782223-76782224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60056123	chr16:76782268-76782269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550661174	chr16:76782283-76782284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374985646	chr16:76782308-76782309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563982860	chr16:76782314-76782315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533035195	chr16:76782321-76782322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61217580	chr16:76782360-76782361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569810201	chr16:76782390-76782391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533586586	chr16:76782395-76782396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529070664	chr16:76782414-76782415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371099900	chr16:76782433-76782434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548839554	chr16:76782453-76782454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546859345	chr16:76782459-76782460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76714926	chr16:76782474-76782475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72788693	chr16:76782548-76782549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554127352	chr16:76782615-76782616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535767929	chr16:76782632-76782633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570804828	chr16:76782635-76782636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202054959	chr16:76782641-76782642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200544957	chr16:76782657-76782658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564823024	chr16:76782658-76782659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112831448	chr16:76782659-76782660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386792301	chr16:76782678-76782679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115248093	chr16:76782679-76782680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371434473	chr16:76782730-76782731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141492692	chr16:76782836-76782837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536076453	chr16:76782887-76782888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556049170	chr16:76782918-76782919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572786799	chr16:76782959-76782960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541399140	chr16:76782985-76782986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564103531	chr16:76783060-76783061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577592056	chr16:76783098-76783099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4310878	chr16:76783103-76783104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146328880	chr16:76783140-76783141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529010469	chr16:76783171-76783172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181430464	chr16:76783186-76783187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7190230	chr16:76783204-76783205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184818170	chr16:76783245-76783246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139531795	chr16:76783259-76783260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190092186	chr16:76783270-76783271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369912904	chr16:76783277-76783278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181672116	chr16:76783294-76783295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144188102	chr16:76783309-76783310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534019846	chr16:76783317-76783318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536016310	chr16:76783391-76783392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555983998	chr16:76783411-76783412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553668866	chr16:76783422-76783423	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76781200-76784800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr16:76781600-76782800	Weak transcription	Brain Germinal Matrix	brain
3	chr16:76782200-76785400	Enhancers	Fetal Lung	lung
4	chr16:76782600-76783800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:76782800-76784000	Enhancers	Brain Germinal Matrix	brain
6	chr16:76783000-76783200	Enhancers	Gastric	stomach
7	chr16:76783800-76784200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:76784000-76786400	Weak transcription	Brain Germinal Matrix	brain
9	chr16:76784200-76784600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:76784400-76784600	Enhancers	Fetal Brain Male	brain
11	chr16:76784600-76785600	Weak transcription	Fetal Brain Male	brain
12	chr16:76784800-76785200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:76785200-76785800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr16:76785600-76787400	Enhancers	Fetal Brain Male	brain
15	chr16:76786400-76787000	Enhancers	Brain Germinal Matrix	brain
16	chr16:76788200-76789000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:76797200-76797600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:76802400-76802800	Enhancers	Colon Smooth Muscle	Colon
19	chr16:76802800-76803200	Enhancers	Stomach Smooth Muscle	stomach
20	chr16:76803600-76803800	Enhancers	Fetal Brain Male	brain
21	chr16:76803800-76804400	Weak transcription	Fetal Brain Male	brain
22	chr16:76804400-76807000	Enhancers	Fetal Brain Male	brain
23	chr16:76805000-76805600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr16:76805000-76806000	Enhancers	Fetal Brain Female	brain
25	chr16:76805200-76805600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr16:76808800-76812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:76811600-76812000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:76811600-76812400	Enhancers	Brain Germinal Matrix	brain
29	chr16:76811800-76812600	Enhancers	HMEC	breast
30	chr16:76812000-76812400	Enhancers	Fetal Brain Female	brain
31	chr16:76812000-76813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:76812200-76812600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:76812600-76813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:76812600-76818000	Weak transcription	HMEC	breast
35	chr16:76813000-76818800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:76813200-76813400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:76813400-76816800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:76813800-76814400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:76814400-76815000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:76815000-76815200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:76815200-76817600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:76816800-76818600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:76817600-76818200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:76818000-76819000	Enhancers	HMEC	breast
45	chr16:76818200-76824000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:76819000-76821000	Weak transcription	HMEC	breast
47	chr16:76821000-76821400	Enhancers	HMEC	breast
48	chr16:76824000-76824200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:76824200-76838800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:76825000-76825400	Enhancers	HUES48 Cell Line	embryonic stem cell

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