Variant report

Variant	esv1001951
Chromosome Location	chr16:82706107-82706929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575425700	chr16:82706115-82706116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114869806	chr16:82706122-82706123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7198915	chr16:82706126-82706127	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs79293793	chr16:82706150-82706151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184232757	chr16:82706156-82706157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144196113	chr16:82706170-82706171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561355289	chr16:82706174-82706175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528846388	chr16:82706175-82706176	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76485591	chr16:82706178-82706179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564038791	chr16:82706199-82706200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531096018	chr16:82706204-82706205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71402029	chr16:82706232-82706233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189894574	chr16:82706234-82706235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369342794	chr16:82706237-82706238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528602889	chr16:82706279-82706280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547077051	chr16:82706286-82706287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538486861	chr16:82706333-82706334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182116176	chr16:82706362-82706363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373522325	chr16:82706373-82706374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs67236795	chr16:82706374-82706375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71376309	chr16:82706405-82706406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57378630	chr16:82706406-82706407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7186819	chr16:82706407-82706408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138330480	chr16:82706408-82706409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544734718	chr16:82706409-82706410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535868684	chr16:82706419-82706420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111815222	chr16:82706421-82706422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71146083	chr16:82706422-82706423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550681872	chr16:82706426-82706427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569170186	chr16:82706428-82706429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567385261	chr16:82706446-82706447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539347472	chr16:82706454-82706455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185512995	chr16:82706472-82706473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11863237	chr16:82706479-82706480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533656460	chr16:82706486-82706487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190822086	chr16:82706488-82706489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534483863	chr16:82706500-82706501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7187015	chr16:82706502-82706503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376312198	chr16:82706507-82706508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369185120	chr16:82706521-82706522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372930447	chr16:82706536-82706537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562336327	chr16:82706559-82706560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12934902	chr16:82706567-82706568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368691672	chr16:82706569-82706570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564682863	chr16:82706570-82706571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544906371	chr16:82706587-82706588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562942948	chr16:82706604-82706605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533576291	chr16:82706607-82706608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140019191	chr16:82706608-82706609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199739407	chr16:82706609-82706610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82690200-82709000	Weak transcription	Aorta	Aorta
2	chr16:82694200-82728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:82694400-82709000	Weak transcription	NH-A	brain
4	chr16:82695000-82708800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:82695400-82726600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:82699400-82716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:82700600-82713000	Weak transcription	HSMM	muscle
8	chr16:82701000-82717000	Weak transcription	HSMMtube	muscle
9	chr16:82702800-82712600	Weak transcription	Left Ventricle	heart
10	chr16:82702800-82718600	Weak transcription	Fetal Muscle Leg	muscle
11	chr16:82703600-82709200	Weak transcription	Right Ventricle	heart
12	chr16:82704200-82707200	Weak transcription	Psoas Muscle	Psoas
13	chr16:82704600-82709000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr16:82705400-82706200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:82705400-82706200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:82705400-82706400	Enhancers	NHEK	skin
17	chr16:82705400-82706600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:82705600-82706200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:82705600-82706600	Enhancers	HMEC	breast
20	chr16:82705800-82709200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr16:82706200-82706600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:82706200-82708600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:82706200-82712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:82706400-82712000	Weak transcription	NHEK	skin
25	chr16:82706600-82708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:82706600-82712200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:82706600-82716400	Weak transcription	HUVEC	blood vessel
28	chr16:82706600-82716800	Weak transcription	HMEC	breast

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