Variant report

Variant	esv990642
Chromosome Location	chr16:76538778-76544114
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	chr16:76542177..76544098-chr6:26155995..26158781,2	MCF-7	breast:
2	chr16:76534271..76535887-chr16:76537682..76540215,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168298	chromatin interactions
ENSG00000158373	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:213 , 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	rs572082703	chr16:76538789-76538790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554505203	chr16:76538795-76538796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567248540	chr16:76538817-76538818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537858885	chr16:76538843-76538844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116394171	chr16:76538851-76538852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190920076	chr16:76538852-76538853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573036232	chr16:76538887-76538888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544873839	chr16:76538904-76538905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146249668	chr16:76538932-76538933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575209729	chr16:76538962-76538963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544242460	chr16:76538972-76538973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139125930	chr16:76538974-76538975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529697100	chr16:76538984-76538985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538105294	chr16:76538991-76538992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369573498	chr16:76538997-76538998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560762269	chr16:76539011-76539012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532740704	chr16:76539040-76539041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183239319	chr16:76539068-76539069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546857938	chr16:76539073-76539074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569346351	chr16:76539081-76539082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531687553	chr16:76539089-76539090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541139503	chr16:76539113-76539114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149002915	chr16:76539133-76539134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372737790	chr16:76539134-76539135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377214781	chr16:76539135-76539136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369492980	chr16:76539136-76539137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188164437	chr16:76539137-76539138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533925755	chr16:76539139-76539140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374109183	chr16:76539140-76539141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377669826	chr16:76539141-76539142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371249573	chr16:76539149-76539150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190140760	chr16:76539153-76539154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182762993	chr16:76539278-76539279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78572301	chr16:76539282-76539283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112017889	chr16:76539339-76539340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544357477	chr16:76539346-76539347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150010591	chr16:76539429-76539430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574530204	chr16:76539463-76539464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145291158	chr16:76539488-76539489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560847085	chr16:76539559-76539560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577428647	chr16:76539575-76539576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149162739	chr16:76539602-76539603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60537766	chr16:76539619-76539620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531920758	chr16:76539664-76539665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144654576	chr16:76539667-76539668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112319649	chr16:76539756-76539757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116650687	chr16:76539816-76539817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187447834	chr16:76539822-76539823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147871445	chr16:76539841-76539842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59452342	chr16:76539884-76539885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76525200-76554000	Weak transcription	Brain Inferior Temporal Lobe	brain

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