Variant report

Variant	esv3435119
Chromosome Location	chr16:82691859-82692690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562466930	chr16:82691877-82691878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531917759	chr16:82691895-82691896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183935563	chr16:82691924-82691925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570011141	chr16:82691938-82691939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548518193	chr16:82691970-82691971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35586597	chr16:82691974-82691975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574442450	chr16:82691988-82691989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558804134	chr16:82691990-82691991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543467171	chr16:82691993-82691994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199937646	chr16:82692022-82692023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570600575	chr16:82692051-82692052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534769783	chr16:82692056-82692057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188713244	chr16:82692057-82692058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552251771	chr16:82692064-82692065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574556713	chr16:82692113-82692114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527916893	chr16:82692132-82692133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556718739	chr16:82692138-82692139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575171204	chr16:82692139-82692140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74496709	chr16:82692146-82692147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs8046366	chr16:82692155-82692156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532605303	chr16:82692202-82692203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113289345	chr16:82692220-82692221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113950328	chr16:82692232-82692233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12597057	chr16:82692235-82692236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs530159927	chr16:82692255-82692256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75094290	chr16:82692262-82692263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569991460	chr16:82692274-82692275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530930244	chr16:82692276-82692277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552189716	chr16:82692294-82692295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372745828	chr16:82692297-82692298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534836476	chr16:82692316-82692317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368229815	chr16:82692318-82692319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553232485	chr16:82692358-82692359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568245493	chr16:82692366-82692367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535758718	chr16:82692373-82692374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376000148	chr16:82692379-82692380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148495709	chr16:82692400-82692401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575136156	chr16:82692402-82692403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181548417	chr16:82692405-82692406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185882800	chr16:82692419-82692420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527316972	chr16:82692444-82692445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541300956	chr16:82692456-82692457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs58685808	chr16:82692465-82692466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530223040	chr16:82692554-82692555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542003848	chr16:82692581-82692582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142224847	chr16:82692586-82692587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75932981	chr16:82692597-82692598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552518063	chr16:82692603-82692604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190234415	chr16:82692606-82692607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539498721	chr16:82692615-82692616	Weak transcription Enhancers	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
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

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82683000-82694200	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr16:82683000-82694800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr16:82683200-82692200	Enhancers	Thymus	Thymus
4	chr16:82683200-82695200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr16:82683600-82694200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr16:82684000-82692400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr16:82685800-82694400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr16:82686000-82695000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr16:82687400-82692600	Weak transcription	Esophagus	oesophagus
10	chr16:82687600-82692600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:82687600-82693200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr16:82687800-82692600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr16:82688000-82692000	Enhancers	HMEC	breast
14	chr16:82688000-82692000	Enhancers	NHDF-Ad	bronchial
15	chr16:82688000-82692800	Enhancers	HUVEC	blood vessel
16	chr16:82688200-82693800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:82688200-82696000	Weak transcription	Fetal Heart	heart
18	chr16:82688400-82694800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:82689000-82693400	Enhancers	Osteobl	bone
20	chr16:82689200-82693400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr16:82689200-82693400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:82689600-82692000	Enhancers	NHEK	skin
23	chr16:82689600-82692800	Weak transcription	Lung	lung
24	chr16:82689600-82693400	Enhancers	HSMMtube	muscle
25	chr16:82689600-82693600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr16:82690000-82692600	Weak transcription	Fetal Muscle Leg	muscle
27	chr16:82690000-82693400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:82690000-82693400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:82690000-82693400	Weak transcription	Left Ventricle	heart
30	chr16:82690000-82693400	Weak transcription	Psoas Muscle	Psoas
31	chr16:82690000-82694000	Weak transcription	Right Atrium	heart
32	chr16:82690000-82694800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:82690000-82697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:82690000-82698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:82690200-82693400	Enhancers	HSMM	muscle
36	chr16:82690200-82700400	Weak transcription	Right Ventricle	heart
37	chr16:82690200-82709000	Weak transcription	Aorta	Aorta
38	chr16:82690400-82693200	Weak transcription	GM12878-XiMat	blood
39	chr16:82690400-82693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr16:82690400-82693400	Weak transcription	Fetal Thymus	thymus
41	chr16:82690800-82692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:82691000-82693200	Weak transcription	NHLF	lung
43	chr16:82691000-82694400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:82691400-82692000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr16:82691400-82693600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:82691600-82692200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr16:82691600-82692800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:82691600-82693200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:82691600-82693400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:82691600-82694200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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