Variant report

Variant	esv2006606
Chromosome Location	chr16:76598734-76601743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554006771	chr16:76598765-76598766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143895536	chr16:76598781-76598782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4531751	chr16:76598782-76598783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34180933	chr16:76598811-76598812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576205067	chr16:76598826-76598827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114049983	chr16:76598829-76598830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147247941	chr16:76598852-76598853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572040821	chr16:76598867-76598868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541374700	chr16:76598868-76598869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578059030	chr16:76598871-76598872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140662492	chr16:76598872-76598873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533363833	chr16:76598914-76598915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543992073	chr16:76598930-76598931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563481240	chr16:76598949-76598950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529332064	chr16:76598982-76598983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35948950	chr16:76598992-76598993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141412115	chr16:76599039-76599040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9930492	chr16:76599110-76599111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569630326	chr16:76599141-76599142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150915226	chr16:76599146-76599147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183322518	chr16:76599188-76599189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556387360	chr16:76599191-76599192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139403100	chr16:76599209-76599210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4539627	chr16:76599222-76599223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs150043718	chr16:76599228-76599229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572078254	chr16:76599231-76599232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4594276	chr16:76599235-76599236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558212445	chr16:76599238-76599239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146599141	chr16:76599282-76599283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187477179	chr16:76599299-76599300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4630579	chr16:76599303-76599304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs139220944	chr16:76599304-76599305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4499263	chr16:76599347-76599348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559382401	chr16:76599389-76599390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532740987	chr16:76599431-76599432	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs549383207	chr16:76599441-76599442	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs528481693	chr16:76599447-76599448	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192433742	chr16:76599469-76599470	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73628412	chr16:76599499-76599500	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370943194	chr16:76599512-76599513	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs554616828	chr16:76599538-76599539	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533243671	chr16:76599554-76599555	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs550069419	chr16:76599557-76599558	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs569879004	chr16:76599584-76599585	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs535602578	chr16:76599681-76599682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114734916	chr16:76599703-76599704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183426240	chr16:76599734-76599735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565763683	chr16:76599736-76599737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534361161	chr16:76599746-76599747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557719616	chr16:76599790-76599791	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76554600-76599400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:76588000-76599400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr16:76598600-76598800	Enhancers	Brain Hippocampus Middle	brain
4	chr16:76599400-76599600	Enhancers	Brain Cingulate Gyrus	brain
5	chr16:76599400-76599600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr16:76599400-76599800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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