Variant report

Variant	esv3324284
Chromosome Location	chr16:77367051-77369949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573369024	chr16:77367102-77367103	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144383014	chr16:77367110-77367111	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185286331	chr16:77367112-77367113	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114796892	chr16:77367147-77367148	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544188291	chr16:77367174-77367175	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61353413	chr16:77367201-77367202	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114366507	chr16:77367218-77367219	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146224629	chr16:77367226-77367227	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189871371	chr16:77367236-77367237	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77524498	chr16:77367297-77367298	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76947749	chr16:77367306-77367307	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139192804	chr16:77367350-77367351	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537159677	chr16:77367372-77367373	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2650892	chr16:77367375-77367376	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567649076	chr16:77367389-77367390	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200433920	chr16:77367390-77367391	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536279946	chr16:77367396-77367397	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76276583	chr16:77367397-77367398	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576975043	chr16:77367398-77367399	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182443125	chr16:77367401-77367402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61412792	chr16:77367402-77367403	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115609777	chr16:77367442-77367443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540629568	chr16:77367443-77367444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114027173	chr16:77367467-77367468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115215116	chr16:77367468-77367469	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185044664	chr16:77367502-77367503	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75716007	chr16:77367503-77367504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560864462	chr16:77367527-77367528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189376625	chr16:77367549-77367550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181065312	chr16:77367551-77367552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560358765	chr16:77367600-77367601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116734773	chr16:77367608-77367609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551914821	chr16:77367635-77367636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114307242	chr16:77367647-77367648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560294681	chr16:77367694-77367695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531450725	chr16:77367695-77367696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560588720	chr16:77367709-77367710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71378606	chr16:77367747-77367748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567689353	chr16:77367749-77367750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377557749	chr16:77367752-77367753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71137809	chr16:77367765-77367766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74210528	chr16:77367774-77367775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141377842	chr16:77367782-77367783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35703664	chr16:77367783-77367784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199652003	chr16:77367786-77367787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74208554	chr16:77367803-77367804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74209992	chr16:77367809-77367810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546699975	chr16:77367847-77367848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36144899	chr16:77367851-77367852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185274638	chr16:77367853-77367854	Weak transcription	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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77329200-77389800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:77351000-77369800	Weak transcription	Brain Substantia Nigra	brain
3	chr16:77359400-77392800	Weak transcription	HUVEC	blood vessel
4	chr16:77364800-77369600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:77364800-77369600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr16:77364800-77369800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:77365000-77369800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:77365000-77383600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr16:77365400-77369200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:77365600-77367600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:77365600-77369400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr16:77366000-77367400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:77366000-77367600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr16:77366200-77369200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:77367000-77367200	Enhancers	Fetal Kidney	kidney
16	chr16:77367400-77369400	Weak transcription	Fetal Kidney	kidney
17	chr16:77367400-77370600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:77367600-77369600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:77367600-77370000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr16:77369200-77369800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr16:77369200-77371200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:77369200-77371400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr16:77369200-77371600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:77369400-77369600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr16:77369400-77370600	Enhancers	Fetal Kidney	kidney
26	chr16:77369600-77370000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:77369600-77370000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:77369600-77370200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:77369600-77370200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:77369600-77370400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr16:77369600-77371400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:77369600-77371400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:77369600-77371400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr16:77369600-77371400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr16:77369600-77371600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr16:77369600-77371600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr16:77369800-77370000	Enhancers	Brain Substantia Nigra	brain
38	chr16:77369800-77370400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr16:77369800-77370800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr16:77369800-77371000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:77369800-77371400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr16:77369800-77371400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr16:77369800-77371400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr16:77369800-77371600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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