Variant report

Variant	esv3321703
Chromosome Location	chr16:82332401-82334699
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	chr16:82325315..82328558-chr16:82329366..82332444,4	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554141395	chr16:82332414-82332415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536619087	chr16:82332428-82332429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191186998	chr16:82332437-82332438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116265490	chr16:82332439-82332440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536946895	chr16:82332516-82332517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183773385	chr16:82332523-82332524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576614538	chr16:82332550-82332551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115548977	chr16:82332553-82332554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188498373	chr16:82332574-82332575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550991812	chr16:82332580-82332581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562547680	chr16:82332590-82332591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563139295	chr16:82332615-82332616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111444060	chr16:82332624-82332625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77947144	chr16:82332636-82332637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565609880	chr16:82332659-82332660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138030686	chr16:82332720-82332721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547693046	chr16:82332732-82332733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566127881	chr16:82332738-82332739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542990563	chr16:82332754-82332755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181391415	chr16:82332755-82332756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2932831	chr16:82332761-82332762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149523374	chr16:82332780-82332781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558408733	chr16:82332843-82332844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147194177	chr16:82332852-82332853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35498751	chr16:82332897-82332898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186647006	chr16:82332905-82332906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112981133	chr16:82332908-82332909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12926828	chr16:82332928-82332929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34319248	chr16:82332931-82332932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10643532	chr16:82332950-82332951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397695596	chr16:82332951-82332952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190306958	chr16:82333012-82333013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541556564	chr16:82333025-82333026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138701213	chr16:82333032-82333033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202184298	chr16:82333132-82333133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201286409	chr16:82333141-82333142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374357193	chr16:82333142-82333143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545840013	chr16:82333162-82333163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565547957	chr16:82333164-82333165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181866097	chr16:82333175-82333176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200992232	chr16:82333190-82333191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187284609	chr16:82333208-82333209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575341848	chr16:82333209-82333210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369047134	chr16:82333219-82333220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530361578	chr16:82333259-82333260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199819217	chr16:82333320-82333321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569846047	chr16:82333349-82333350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530786663	chr16:82333380-82333381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11150450	chr16:82333383-82333384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11150451	chr16:82333397-82333398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82329400-82334200	Weak transcription	Left Ventricle	heart
2	chr16:82329400-82335800	Weak transcription	Brain Anterior Caudate	brain
3	chr16:82329800-82334400	Weak transcription	Fetal Heart	heart
4	chr16:82334200-82335400	Enhancers	Left Ventricle	heart
5	chr16:82334200-82337000	Enhancers	Fetal Brain Male	brain
6	chr16:82334400-82335600	Enhancers	Fetal Brain Female	brain
7	chr16:82334400-82336600	Enhancers	Lung	lung
8	chr16:82334400-82336800	Enhancers	Fetal Heart	heart
9	chr16:82334600-82335400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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