Variant report

Variant	nsv1067008
Chromosome Location	chr16:82273372-82287173
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	chr16:82287148..82288914-chr16:82290402..82292372,2	MCF-7	breast:
2	chr16:82276132..82278631-chr16:82297407..82299640,2	MCF-7	breast:

Extended variants
information (count: 243 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:243 , 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	rs146393056	chr16:82273615-82273616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549284717	chr16:82273689-82273690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs8046383	chr16:82273722-82273723	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs8062016	chr16:82273750-82273751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549373358	chr16:82273766-82273767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570863439	chr16:82273828-82273829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1011432	chr16:82273829-82273830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186673620	chr16:82273833-82273834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553551392	chr16:82273867-82273868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189854677	chr16:82273871-82273872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534129106	chr16:82273874-82273875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556067114	chr16:82273893-82273894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574396121	chr16:82273899-82273900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570645095	chr16:82273900-82273901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139781223	chr16:82273965-82273966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75725284	chr16:82273970-82273971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145300496	chr16:82273971-82273972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545554538	chr16:82273972-82273973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560360338	chr16:82273985-82273986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148776806	chr16:82273994-82273995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142310793	chr16:82274033-82274034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561095125	chr16:82274059-82274060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531504045	chr16:82274126-82274127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7205841	chr16:82274146-82274147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182811109	chr16:82274190-82274191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2967333	chr16:82274207-82274208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs71402003	chr16:82274219-82274220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575038255	chr16:82274227-82274228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547517896	chr16:82274248-82274249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151281089	chr16:82274258-82274259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115034838	chr16:82274260-82274261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7187181	chr16:82274265-82274266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs73596915	chr16:82274299-82274300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538557221	chr16:82274304-82274305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141539354	chr16:82274306-82274307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144162033	chr16:82274321-82274322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375190142	chr16:82274322-82274323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57199827	chr16:82274330-82274331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs115741544	chr16:82274357-82274358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368237011	chr16:82274360-82274361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572454868	chr16:82274365-82274366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188227075	chr16:82274366-82274367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145384273	chr16:82274389-82274390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192799361	chr16:82274454-82274455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554481881	chr16:82274463-82274464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59936413	chr16:82274471-82274472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546157071	chr16:82274510-82274511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543346036	chr16:82274523-82274524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562576780	chr16:82274532-82274533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538710994	chr16:82274577-82274578	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	chr16:82273600-82274000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:82273600-82274000	Enhancers	NHEK	skin
3	chr16:82273600-82274200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:82274000-82274200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr16:82274200-82275000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr16:82275000-82275400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr16:82277200-82278000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:82281600-82282400	Enhancers	Brain Anterior Caudate	brain
9	chr16:82281800-82283400	Enhancers	Gastric	stomach

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