Variant report

Variant	nsv906934
Chromosome Location	chr16:76021698-76069129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2031 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2031 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8057412	chr16:76021698-76021699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554697512	chr16:76021740-76021741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373300898	chr16:76021753-76021754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72791354	chr16:76021758-76021759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541324022	chr16:76021779-76021780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11866280	chr16:76021788-76021789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150750786	chr16:76021796-76021797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543020542	chr16:76021814-76021815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76486899	chr16:76021821-76021822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137868656	chr16:76021824-76021825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563097259	chr16:76021875-76021876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36049809	chr16:76021878-76021879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559512873	chr16:76021881-76021882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191307932	chr16:76021888-76021889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571862381	chr16:76021894-76021895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149466358	chr16:76021917-76021918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111351917	chr16:76021957-76021958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112373618	chr16:76021964-76021965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147212892	chr16:76021965-76021966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550685604	chr16:76022034-76022035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567775019	chr16:76022094-76022095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548521361	chr16:76022097-76022098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2866263	chr16:76022102-76022103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567378252	chr16:76022104-76022105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374041523	chr16:76022110-76022111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370147758	chr16:76022111-76022112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555640911	chr16:76022114-76022115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576004406	chr16:76022120-76022121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200356274	chr16:76022125-76022126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61131960	chr16:76022126-76022127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149238791	chr16:76022129-76022130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76294051	chr16:76022148-76022149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368623866	chr16:76022158-76022159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558102915	chr16:76022172-76022173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182485313	chr16:76022204-76022205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547676850	chr16:76022217-76022218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374321747	chr16:76022232-76022233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556681812	chr16:76022235-76022236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368187779	chr16:76022250-76022251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566177917	chr16:76022264-76022265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573723024	chr16:76022281-76022282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140652547	chr16:76022285-76022286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534589091	chr16:76022346-76022347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112943397	chr16:76022350-76022351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187174522	chr16:76022368-76022369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565272466	chr16:76022387-76022388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1909111	chr16:76022393-76022394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs75557076	chr16:76022408-76022409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550999466	chr16:76022415-76022416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567542057	chr16:76022423-76022424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76020000-76029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76029400-76030600	Enhancers	Brain Germinal Matrix	brain
3	chr16:76029400-76032800	Enhancers	HMEC	breast
4	chr16:76029600-76032400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:76032400-76049800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:76035600-76035800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:76037600-76038000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:76039200-76039400	Enhancers	Brain Substantia Nigra	brain
9	chr16:76043200-76043400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:76049200-76051400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:76051400-76055200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:76055200-76056400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:76055600-76055800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:76055800-76057400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:76056400-76057600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:76057400-76057800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:76057600-76057800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:76057800-76058200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:76058200-76058600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:76061200-76061800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr16:76068200-76071000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:76068800-76069400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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