Variant report

Variant	nsv431519
Chromosome Location	chr16:77043478-77091611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:77044641..77046687-chr16:77049304..77051697,2	K562	blood:
2	chr16:77044641..77046687-chr16:77049304..77051697,2	K562	blood:
3	chr16:76856883..76857419-chr16:77076804..77077643,2	MCF-7	breast:
4	chr16:77076688..77077729-chr16:77203577..77204202,3	MCF-7	breast:
5	chr16:77059610..77062396-chr16:77260233..77262257,2	K562	blood:
6	chr16:76886880..76887748-chr16:77077328..77078325,2	MCF-7	breast:
7	chr16:77078662..77079429-chr16:77203303..77204211,3	MCF-7	breast:
8	chr16:76887896..76888842-chr16:77076469..77077719,11	MCF-7	breast:
9	chr16:76699528..76700343-chr16:77076632..77077627,2	MCF-7	breast:

No data

Extended variants
information (count: 803 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10514407	chr16:77043478-77043479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577806989	chr16:77043491-77043492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs284922	chr16:77043517-77043518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs284923	chr16:77043538-77043539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141440683	chr16:77043549-77043550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114774773	chr16:77043552-77043553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542262305	chr16:77043566-77043567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145179412	chr16:77043572-77043573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185190306	chr16:77043575-77043576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188507346	chr16:77043577-77043578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35830514	chr16:77043580-77043581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564593116	chr16:77043616-77043617	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs284924	chr16:77043626-77043627	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549939500	chr16:77043638-77043639	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs538950409	chr16:77043653-77043654	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs8061371	chr16:77043677-77043678	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs529509335	chr16:77043698-77043699	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs192890129	chr16:77043699-77043700	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs565492982	chr16:77043709-77043710	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs572836825	chr16:77043734-77043735	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs58736634	chr16:77043774-77043775	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185111761	chr16:77043776-77043777	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs189382829	chr16:77043790-77043791	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs145853345	chr16:77043792-77043793	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs542025543	chr16:77047819-77047820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561688608	chr16:77047888-77047889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs623615	chr16:77047901-77047902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs57763273	chr16:77047907-77047908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564395672	chr16:77047937-77047938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532584481	chr16:77047991-77047992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1502445	chr16:77048642-77048643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371004818	chr16:77048689-77048690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192301432	chr16:77048697-77048698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79293280	chr16:77048754-77048755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140582348	chr16:77048765-77048766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557318768	chr16:77049628-77049629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143126781	chr16:77049641-77049642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377549956	chr16:77049643-77049644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563770662	chr16:77049689-77049690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs283996	chr16:77049696-77049697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535495560	chr16:77049711-77049712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532684530	chr16:77049719-77049720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572448639	chr16:77049724-77049725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs66928751	chr16:77049761-77049762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59760585	chr16:77049802-77049803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112301571	chr16:77049827-77049828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138010793	chr16:77049837-77049838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12926690	chr16:77049840-77049841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74025439	chr16:77049842-77049843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143006717	chr16:77049874-77049875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77043000-77043800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:77043400-77043600	Enhancers	Pancreas	Pancrea
3	chr16:77043600-77043800	Bivalent Enhancer	Pancreas	Pancrea
4	chr16:77047800-77048000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:77048600-77048800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:77049600-77058800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:77058800-77059000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:77062000-77063000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:77064800-77065600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:77065000-77065400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr16:77065000-77065600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr16:77066000-77066400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr16:77071400-77072400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:77071600-77072400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr16:77072000-77072400	Enhancers	Placenta	Placenta
16	chr16:77072000-77073200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:77080000-77080600	Enhancers	Brain Germinal Matrix	brain
18	chr16:77082000-77082600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:77091200-77097800	Enhancers	Primary neutrophils fromperipheralblood	blood

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