Variant report

Variant	esv3450770
Chromosome Location	chr16:82435151-82437849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562528395	chr16:82435175-82435176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75588345	chr16:82435183-82435184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551260826	chr16:82435188-82435189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77606991	chr16:82435192-82435193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189666647	chr16:82435211-82435212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548918569	chr16:82435212-82435213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182879376	chr16:82435220-82435221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141711081	chr16:82435221-82435222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556255871	chr16:82435284-82435285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571252010	chr16:82435307-82435308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538683335	chr16:82435332-82435333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558446759	chr16:82435343-82435344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573594590	chr16:82435355-82435356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145480550	chr16:82435362-82435363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368020146	chr16:82435375-82435376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574817519	chr16:82435377-82435378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574211789	chr16:82435418-82435419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540271571	chr16:82435444-82435445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544372033	chr16:82435446-82435447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3848291	chr16:82435448-82435449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528503381	chr16:82435473-82435474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577571166	chr16:82435572-82435573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548276024	chr16:82435574-82435575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148001869	chr16:82435578-82435579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559978416	chr16:82435622-82435623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568369891	chr16:82435627-82435628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375922086	chr16:82435629-82435630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527610511	chr16:82435654-82435655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549284814	chr16:82435656-82435657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369844288	chr16:82435679-82435680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560909133	chr16:82435736-82435737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372907957	chr16:82435756-82435757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187805340	chr16:82435770-82435771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141700962	chr16:82435771-82435772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538597964	chr16:82435778-82435779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547437468	chr16:82435790-82435791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546313911	chr16:82435815-82435816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13334879	chr16:82435824-82435825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534212017	chr16:82435871-82435872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4060645	chr16:82435920-82435921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574150872	chr16:82435978-82435979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538437827	chr16:82435999-82436000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369381052	chr16:82436017-82436018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191521426	chr16:82436036-82436037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115338176	chr16:82436044-82436045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544971572	chr16:82436070-82436071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560090648	chr16:82436102-82436103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572436012	chr16:82436107-82436108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542546593	chr16:82436125-82436126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561282136	chr16:82436148-82436149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82434000-82436400	Weak transcription	Fetal Brain Male	brain
2	chr16:82436400-82436800	Enhancers	Fetal Brain Male	brain
3	chr16:82436600-82437200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:82437200-82440000	Enhancers	Primary T cells fromperipheralblood	blood

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