Variant report

Variant	esv3382995
Chromosome Location	chr16:77494047-77494563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62046468	chr16:77494106-77494107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187037959	chr16:77494118-77494119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567702648	chr16:77494140-77494141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138154044	chr16:77494165-77494166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142318350	chr16:77494166-77494167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189962353	chr16:77494180-77494181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542276521	chr16:77494185-77494186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11402163	chr16:77494204-77494205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397855894	chr16:77494205-77494206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527958978	chr16:77494319-77494320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7184738	chr16:77494343-77494344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115530169	chr16:77494405-77494406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11419579	chr16:77494414-77494415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397854974	chr16:77494424-77494425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62046469	chr16:77494430-77494431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558793125	chr16:77494479-77494480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116359223	chr16:77494493-77494494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569773840	chr16:77494494-77494495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371076276	chr16:77494548-77494549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541567740	chr16:77494559-77494560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77491200-77496200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:77491200-77496600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:77491200-77496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:77491200-77496600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:77493200-77496600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:77493800-77494200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:77494000-77494200	Enhancers	Ovary	ovary
8	chr16:77494200-77496000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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