Variant report

Variant	esv3500218
Chromosome Location	chr16:82400892-82401222
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	chr16:82400970..82402265-chr16:82489997..82490801,4	MCF-7	breast:
2	chr16:82401188..82401863-chr16:82612795..82614499,6	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568107331	chr16:82400919-82400920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149933463	chr16:82400931-82400932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9926541	chr16:82400941-82400942	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373710652	chr16:82400942-82400943	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113061909	chr16:82400965-82400966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56380528	chr16:82401000-82401001	Bivalent Enhancer ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199682758	chr16:82401007-82401008	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9937851	chr16:82401055-82401056	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374129344	chr16:82401116-82401117	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116845154	chr16:82401123-82401124	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576911063	chr16:82401124-82401125	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188113423	chr16:82401134-82401135	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552941373	chr16:82401143-82401144	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144928645	chr16:82401170-82401171	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541713364	chr16:82401192-82401193	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190245432	chr16:82401198-82401199	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182925424	chr16:82401201-82401202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149064802	chr16:82401217-82401218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112742206	chr16:82401218-82401219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82393200-82401800	Weak transcription	Gastric	stomach
2	chr16:82400800-82401000	ZNF genes & repeats	Aorta	Aorta
3	chr16:82401000-82401200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:82401000-82402800	Weak transcription	Aorta	Aorta

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