Variant report

Variant	nsv817745
Chromosome Location	chr16:82213239-82216622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82215365..82217939-chr16:82221171..82222891,2	MCF-7	breast:
2	chr16:82204064..82206323-chr16:82214672..82216826,2	K562	blood:
3	chr16:82203772..82205293-chr16:82216452..82219079,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135698	chromatin interactions
ENSG00000261029	chromatin interactions

Extended variants
information (count: 219 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2967377	chr16:82213239-82213240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2967378	chr16:82213277-82213278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs77708778	chr16:82213281-82213282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7405214	chr16:82213300-82213301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2967379	chr16:82213311-82213312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs547245660	chr16:82213329-82213330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72481367	chr16:82213333-82213334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200363509	chr16:82213334-82213335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201415453	chr16:82213335-82213336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375178343	chr16:82213337-82213338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2967380	chr16:82213356-82213357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs187898411	chr16:82213425-82213426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374161229	chr16:82213436-82213437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543413791	chr16:82213445-82213446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536147910	chr16:82213447-82213448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551098954	chr16:82213466-82213467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2911399	chr16:82213477-82213478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs539678787	chr16:82213487-82213488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191252810	chr16:82213511-82213512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2967381	chr16:82213517-82213518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs533857466	chr16:82213522-82213523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555593455	chr16:82213527-82213528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374975911	chr16:82213542-82213543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74029509	chr16:82213582-82213583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182274600	chr16:82213583-82213584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538406002	chr16:82213587-82213588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555883290	chr16:82213588-82213589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146330836	chr16:82213590-82213591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577305774	chr16:82213652-82213653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548077939	chr16:82213679-82213680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546408102	chr16:82213741-82213742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558241350	chr16:82213743-82213744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368941777	chr16:82213753-82213754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115691035	chr16:82213768-82213769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540579942	chr16:82213785-82213786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7205603	chr16:82213799-82213800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149769209	chr16:82213808-82213809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550978496	chr16:82213813-82213814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187780627	chr16:82213820-82213821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192873954	chr16:82213873-82213874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145684878	chr16:82213921-82213922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148929337	chr16:82213948-82213949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116477564	chr16:82213949-82213950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2967382	chr16:82213959-82213960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs143169196	chr16:82213963-82213964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537485137	chr16:82213991-82213992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555719758	chr16:82214031-82214032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201569039	chr16:82214040-82214041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113676607	chr16:82214060-82214061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538372131	chr16:82214109-82214110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82209800-82214200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr16:82214200-82215400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:82215000-82215200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr16:82215200-82216200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr16:82215400-82215800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr16:82215600-82216000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr16:82215600-82216200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:82215600-82216200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:82215600-82216400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr16:82215600-82216800	Enhancers	Fetal Lung	lung
11	chr16:82215800-82216200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr16:82215800-82216400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr16:82215800-82216400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr16:82215800-82216400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr16:82215800-82219400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr16:82216000-82216400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr16:82216200-82219200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr16:82216400-82221200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links