Variant report

Variant	esv275233
Chromosome Location	chr16:83053629-83057329
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	chr16:83054780..83056767-chr16:83059498..83061947,2	MCF-7	breast:

Extended variants
information (count: 243 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12599326	chr16:83053629-83053630	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542731859	chr16:83053631-83053632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183278724	chr16:83053636-83053637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186368611	chr16:83053640-83053641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112978887	chr16:83053648-83053649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544894006	chr16:83053658-83053659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189543358	chr16:83053663-83053664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117613082	chr16:83053678-83053679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368618904	chr16:83053686-83053687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547348356	chr16:83053687-83053688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117686563	chr16:83053688-83053689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530107746	chr16:83053700-83053701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561059178	chr16:83053702-83053703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142806659	chr16:83053705-83053706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570135255	chr16:83053709-83053710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147393564	chr16:83053735-83053736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559290332	chr16:83053753-83053754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6565102	chr16:83053768-83053769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs137989780	chr16:83053773-83053774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559894770	chr16:83053779-83053780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553461688	chr16:83053799-83053800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149475919	chr16:83053812-83053813	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532102809	chr16:83053816-83053817	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182235044	chr16:83053842-83053843	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143939550	chr16:83053855-83053856	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186495293	chr16:83053864-83053865	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139984354	chr16:83053866-83053867	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564749387	chr16:83053873-83053874	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532710893	chr16:83053923-83053924	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552468745	chr16:83053949-83053950	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191375791	chr16:83053950-83053951	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148623158	chr16:83054033-83054034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569246025	chr16:83054038-83054039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538129990	chr16:83054046-83054047	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549997425	chr16:83054061-83054062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143166032	chr16:83054065-83054066	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370154184	chr16:83054066-83054067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548423629	chr16:83054068-83054069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532655425	chr16:83054118-83054119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146395064	chr16:83054128-83054129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4476164	chr16:83054141-83054142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535315257	chr16:83054151-83054152	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547058396	chr16:83054168-83054169	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548899618	chr16:83054174-83054175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548024578	chr16:83054193-83054194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571450952	chr16:83054228-83054229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567142426	chr16:83054238-83054239	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536295734	chr16:83054242-83054243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113026868	chr16:83054249-83054250	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183581240	chr16:83054267-83054268	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83037000-83066000	Weak transcription	HSMMtube	muscle
2	chr16:83037200-83058000	Weak transcription	HSMM	muscle
3	chr16:83039200-83054000	Weak transcription	Left Ventricle	heart
4	chr16:83039400-83054000	Weak transcription	Right Ventricle	heart
5	chr16:83047200-83058400	Weak transcription	Psoas Muscle	Psoas
6	chr16:83047400-83065400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:83047600-83056200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:83047600-83067200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:83048200-83054200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:83051000-83055400	Weak transcription	Aorta	Aorta
11	chr16:83052200-83053800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:83053200-83054800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:83053800-83054000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:83054000-83054600	Enhancers	Left Ventricle	heart
15	chr16:83054000-83054600	Enhancers	Right Ventricle	heart
16	chr16:83054600-83059800	Weak transcription	Right Ventricle	heart
17	chr16:83054600-83063200	Weak transcription	Left Ventricle	heart
18	chr16:83054800-83064400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:83055400-83056200	Enhancers	Aorta	Aorta
20	chr16:83056200-83056400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr16:83056200-83056800	Enhancers	NHDF-Ad	bronchial
22	chr16:83056200-83057400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:83056200-83057400	Enhancers	Osteobl	bone
24	chr16:83056200-83057800	Enhancers	HUVEC	blood vessel
25	chr16:83056200-83065200	Weak transcription	Aorta	Aorta
26	chr16:83057000-83057400	Enhancers	Muscle Satellite Cultured Cells	--

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