Variant report

Variant	esv989264
Chromosome Location	chr16:77089786-77098066
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	chr16:77092274..77095002-chr16:77096388..77098456,2	MCF-7	breast:
2	chr16:77092274..77095002-chr16:77096388..77098456,2	MCF-7	breast:

Extended variants
information (count: 330 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375084713	chr16:77091221-77091222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149369933	chr16:77091249-77091250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559663127	chr16:77091254-77091255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568555474	chr16:77091262-77091263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183215541	chr16:77091277-77091278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77933502	chr16:77091282-77091283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532772115	chr16:77091286-77091287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147057913	chr16:77091421-77091422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138322064	chr16:77091428-77091429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188178655	chr16:77091441-77091442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368198934	chr16:77091450-77091451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537954144	chr16:77091459-77091460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1564928	chr16:77091472-77091473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574579227	chr16:77091496-77091497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574350739	chr16:77091508-77091509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540459949	chr16:77091519-77091520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374754418	chr16:77091587-77091588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9928199	chr16:77091611-77091612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568132999	chr16:77091625-77091626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192975926	chr16:77091627-77091628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74025454	chr16:77091631-77091632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530773959	chr16:77091663-77091664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530533128	chr16:77091668-77091669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556728449	chr16:77091693-77091694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532189271	chr16:77091694-77091695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561273549	chr16:77091695-77091696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530112840	chr16:77091697-77091698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546825208	chr16:77091809-77091810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552122424	chr16:77091840-77091841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183542757	chr16:77091849-77091850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550521513	chr16:77091851-77091852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115107429	chr16:77091854-77091855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552552153	chr16:77091921-77091922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369784283	chr16:77091925-77091926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537487795	chr16:77091949-77091950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554525976	chr16:77091959-77091960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143830218	chr16:77091981-77091982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187988919	chr16:77091984-77091985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201465997	chr16:77091985-77091986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577069051	chr16:77092065-77092066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114044096	chr16:77092068-77092069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556227492	chr16:77092079-77092080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548553599	chr16:77092111-77092112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576283862	chr16:77092210-77092211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116405900	chr16:77092211-77092212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372278081	chr16:77092225-77092226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570353556	chr16:77092234-77092235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375528373	chr16:77092251-77092252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115920750	chr16:77092259-77092260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574609208	chr16:77092301-77092302	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77091200-77097800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr16:77092800-77094800	Enhancers	Fetal Lung	lung
3	chr16:77093000-77093800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:77093600-77094600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr16:77094600-77095200	Enhancers	Primary T cells from cord blood	blood
6	chr16:77094600-77096200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr16:77094800-77096000	Weak transcription	Fetal Lung	lung
8	chr16:77095200-77096400	Weak transcription	Primary T cells from cord blood	blood
9	chr16:77096000-77098000	Enhancers	Brain Germinal Matrix	brain
10	chr16:77096000-77098200	Enhancers	Fetal Lung	lung
11	chr16:77096200-77097400	Enhancers	Fetal Kidney	kidney
12	chr16:77096200-77098400	Enhancers	Fetal Stomach	stomach
13	chr16:77096200-77101400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr16:77096400-77096800	Enhancers	Adipose Nuclei	Adipose
15	chr16:77096400-77097000	Enhancers	Colon Smooth Muscle	Colon
16	chr16:77096400-77097400	Enhancers	Primary T cells from cord blood	blood
17	chr16:77096600-77097400	Enhancers	Fetal Heart	heart
18	chr16:77096800-77097000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr16:77096800-77097200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr16:77096800-77097800	Enhancers	Brain Cingulate Gyrus	brain
21	chr16:77096800-77098000	Enhancers	Right Atrium	heart
22	chr16:77096800-77098200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr16:77096800-77098600	Enhancers	Fetal Muscle Leg	muscle
24	chr16:77097000-77097400	Weak transcription	Colon Smooth Muscle	Colon
25	chr16:77097000-77097400	Active TSS	Fetal Brain Male	brain
26	chr16:77097000-77097400	Enhancers	Fetal Muscle Trunk	muscle
27	chr16:77097000-77097800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:77097000-77098000	Enhancers	Brain Hippocampus Middle	brain
29	chr16:77097000-77098200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr16:77097000-77098400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:77097000-77098400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr16:77097200-77097800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:77097200-77098400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr16:77097200-77098600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr16:77097200-77098800	Enhancers	Adipose Nuclei	Adipose
36	chr16:77097400-77097800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr16:77097400-77097800	Enhancers	Stomach Smooth Muscle	stomach
38	chr16:77097400-77098000	Enhancers	Brain Substantia Nigra	brain
39	chr16:77097400-77098000	Enhancers	Colon Smooth Muscle	Colon
40	chr16:77097400-77098000	Enhancers	Fetal Brain Female	brain
41	chr16:77097400-77098200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr16:77097400-77098600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:77097400-77100600	Weak transcription	Fetal Heart	heart
44	chr16:77097400-77104000	Weak transcription	Primary T cells from cord blood	blood
45	chr16:77097600-77098000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr16:77097600-77098200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:77097600-77098200	Enhancers	Gastric	stomach
48	chr16:77097600-77098400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr16:77097600-77098600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr16:77097600-77098600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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