Variant report

Variant	esv3323265
Chromosome Location	chr16:59807826-59809924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560362069	chr16:59807831-59807832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527462707	chr16:59807846-59807847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542844233	chr16:59807848-59807849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1119735	chr16:59807916-59807917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376309723	chr16:59807925-59807926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1119736	chr16:59807982-59807983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141504078	chr16:59808070-59808071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533410700	chr16:59808115-59808116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551677587	chr16:59808147-59808148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191905926	chr16:59808152-59808153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11076341	chr16:59808174-59808175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147037124	chr16:59808196-59808197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182777525	chr16:59808200-59808201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574782326	chr16:59808270-59808271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200197706	chr16:59808301-59808302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552981973	chr16:59808302-59808303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201355433	chr16:59808303-59808304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375094892	chr16:59808326-59808327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71160337	chr16:59808327-59808328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369495213	chr16:59808328-59808329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28803308	chr16:59808330-59808331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370909410	chr16:59808337-59808338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371677784	chr16:59808338-59808339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376687184	chr16:59808340-59808341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369186209	chr16:59808342-59808343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373900173	chr16:59808344-59808345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373736072	chr16:59808346-59808347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367849197	chr16:59808347-59808348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375499993	chr16:59808349-59808350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371291233	chr16:59808353-59808354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79408731	chr16:59808360-59808361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369826830	chr16:59808370-59808371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374084315	chr16:59808372-59808373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373340956	chr16:59808373-59808374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377501099	chr16:59808375-59808376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187894173	chr16:59808384-59808385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74198464	chr16:59808410-59808411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368819238	chr16:59808411-59808412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372488922	chr16:59808484-59808485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375767559	chr16:59808491-59808492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367927303	chr16:59808501-59808502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192664286	chr16:59808504-59808505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370412553	chr16:59808519-59808520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372057034	chr16:59808520-59808521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376345007	chr16:59808523-59808524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374057325	chr16:59808530-59808531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376686043	chr16:59808536-59808537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371212675	chr16:59808537-59808538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374444519	chr16:59808544-59808545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368814400	chr16:59808558-59808559	Weak 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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD
Breast cancer	17142309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59788200-59811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:59807600-59810400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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