Variant report

Variant	esv3330031
Chromosome Location	chr16:77366666-77367254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:77364104..77366895-chr16:77412752..77415656,2	K562	blood:
2	chr16:77364163..77366855-chr16:77389238..77390900,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564970336	chr16:77366691-77366692	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62044953	chr16:77366703-77366704	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76819553	chr16:77366723-77366724	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566658092	chr16:77366724-77366725	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538487858	chr16:77366734-77366735	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114243328	chr16:77366739-77366740	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577745442	chr16:77366754-77366755	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188461213	chr16:77366766-77366767	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575869001	chr16:77366781-77366782	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192550036	chr16:77366866-77366867	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148553373	chr16:77366985-77366986	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543301664	chr16:77367033-77367034	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553428902	chr16:77367043-77367044	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573369024	chr16:77367102-77367103	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144383014	chr16:77367110-77367111	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185286331	chr16:77367112-77367113	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114796892	chr16:77367147-77367148	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544188291	chr16:77367174-77367175	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61353413	chr16:77367201-77367202	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114366507	chr16:77367218-77367219	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146224629	chr16:77367226-77367227	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189871371	chr16:77367236-77367237	Genic enhancers Weak transcription Strong transcription Enhancers	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:15 , 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

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