Variant report

Variant	nsv827771
Chromosome Location	chr16:79789259-79790702
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	chr16:79785733..79789270-chr16:79790871..79794406,3	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370325435	chr16:79789266-79789267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16951283	chr16:79789308-79789309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150477493	chr16:79789328-79789329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547464270	chr16:79789334-79789335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565877177	chr16:79789338-79789339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533735380	chr16:79789382-79789383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145213665	chr16:79789393-79789394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183381238	chr16:79789402-79789403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149129425	chr16:79789442-79789443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555859739	chr16:79789452-79789453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577547342	chr16:79789458-79789459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4387615	chr16:79789502-79789503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553892680	chr16:79789534-79789535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112588820	chr16:79789537-79789538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572214824	chr16:79789540-79789541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368914728	chr16:79789548-79789549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368168517	chr16:79789550-79789551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561473663	chr16:79789558-79789559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531875348	chr16:79789591-79789592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544116310	chr16:79789606-79789607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565467008	chr16:79789619-79789620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532529715	chr16:79789648-79789649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547434286	chr16:79789690-79789691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59684250	chr16:79789717-79789718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372285309	chr16:79789723-79789724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530145441	chr16:79789740-79789741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548734869	chr16:79789749-79789750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374821117	chr16:79789751-79789752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567476897	chr16:79789767-79789768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537675253	chr16:79789770-79789771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13332481	chr16:79789778-79789779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571488975	chr16:79789801-79789802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537627533	chr16:79789811-79789812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191637072	chr16:79789818-79789819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374885176	chr16:79789824-79789825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369637003	chr16:79789862-79789863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553803492	chr16:79789870-79789871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143642569	chr16:79789946-79789947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188495051	chr16:79789973-79789974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554835188	chr16:79789976-79789977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553678359	chr16:79790009-79790010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373718007	chr16:79790017-79790018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576556729	chr16:79790018-79790019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543688345	chr16:79790022-79790023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201376973	chr16:79790040-79790041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117375168	chr16:79790059-79790060	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs111733661	chr16:79790069-79790070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532275856	chr16:79790070-79790071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559338188	chr16:79790113-79790114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62041313	chr16:79790114-79790115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79785000-79789400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:79786200-79789400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:79786200-79791800	Weak transcription	Esophagus	oesophagus
4	chr16:79787000-79792200	Weak transcription	NHLF	lung
5	chr16:79787400-79792400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:79787800-79792600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:79788200-79789400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:79788200-79789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:79788400-79789400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr16:79788400-79789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:79788400-79789400	Enhancers	NHEK	skin
12	chr16:79788600-79790600	Weak transcription	NHDF-Ad	bronchial
13	chr16:79789000-79792400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:79789000-79794000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:79789200-79790200	Weak transcription	Fetal Intestine Large	intestine
16	chr16:79789200-79790400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:79789200-79791000	Weak transcription	Fetal Thymus	thymus
18	chr16:79789200-79791200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:79789200-79791400	Weak transcription	Fetal Intestine Small	intestine
20	chr16:79789200-79792000	Weak transcription	HMEC	breast
21	chr16:79789200-79792400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:79789200-79792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:79789200-79792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:79789200-79792600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:79789200-79792600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr16:79789200-79792600	Weak transcription	Fetal Lung	lung
27	chr16:79789200-79801400	Weak transcription	Fetal Muscle Leg	muscle
28	chr16:79789200-79802000	Weak transcription	Primary T cells from cord blood	blood
29	chr16:79789400-79790400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:79789400-79790800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:79789400-79791400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:79789400-79792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:79789400-79792200	Weak transcription	NHEK	skin
34	chr16:79789400-79801400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:79790200-79790600	ZNF genes & repeats	Fetal Intestine Large	intestine
36	chr16:79790400-79790600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:79790400-79790800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:79790600-79791400	Enhancers	NHDF-Ad	bronchial
39	chr16:79790600-79792400	Weak transcription	Fetal Intestine Large	intestine

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