Variant report

Variant	nsv572901
Chromosome Location	chr16:64964233-64990187
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	chr16:64967316..64969634-chr16:64999143..65001361,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CDH11	hsa-miR-335-5p	chr16:64980991-64980985
2	CDH11	hsa-miR-335-5p	chr16:64980986-64981008

Extended variants
information (count: 810 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:810 , 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	rs535177159	chr16:64967015-64967016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555049647	chr16:64967025-64967026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs466915	chr16:64967034-64967035	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9934467	chr16:64967055-64967056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372671712	chr16:64967080-64967081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376227288	chr16:64967100-64967101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540405478	chr16:64967165-64967166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180709542	chr16:64967184-64967185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529107700	chr16:64967189-64967190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541911707	chr16:64967226-64967227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185242102	chr16:64967301-64967302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571822331	chr16:64967352-64967353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141998452	chr16:64967407-64967408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551023581	chr16:64967430-64967431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2331509	chr16:64967437-64967438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182642027	chr16:64967438-64967439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs437402	chr16:64967465-64967466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186395504	chr16:64967487-64967488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146329800	chr16:64967490-64967491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575687987	chr16:64967537-64967538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35206262	chr16:64967556-64967557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114188993	chr16:64967566-64967567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191713959	chr16:64967585-64967586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555093447	chr16:64967588-64967589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537424323	chr16:64967624-64967625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557363211	chr16:64967630-64967631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577580302	chr16:64967647-64967648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs406925	chr16:64967669-64967670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574996062	chr16:64967682-64967683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115783205	chr16:64967688-64967689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573746453	chr16:64967692-64967693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542890575	chr16:64967693-64967694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562142593	chr16:64967737-64967738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531062819	chr16:64967738-64967739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs400182	chr16:64967743-64967744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12599447	chr16:64967809-64967810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183434482	chr16:64967846-64967847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533368398	chr16:64967851-64967852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188887849	chr16:64967875-64967876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560877890	chr16:64967876-64967877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532338752	chr16:64967938-64967939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549191605	chr16:64967939-64967940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532413891	chr16:64967958-64967959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193140439	chr16:64967970-64967971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537511378	chr16:64968009-64968010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551082320	chr16:64968010-64968011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139649901	chr16:64968021-64968022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533792100	chr16:64968058-64968059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs382418	chr16:64968067-64968068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182284064	chr16:64968146-64968147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64967000-64967200	Enhancers	Brain Angular Gyrus	brain
2	chr16:64967000-64967600	Enhancers	Fetal Lung	lung
3	chr16:64967400-64967800	Enhancers	Fetal Stomach	stomach
4	chr16:64967600-64968000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:64967600-64968200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr16:64967600-64968200	Enhancers	Brain Substantia Nigra	brain
7	chr16:64967800-64968000	Enhancers	Brain Angular Gyrus	brain
8	chr16:64967800-64968200	Enhancers	Fetal Muscle Leg	muscle
9	chr16:64967800-64968600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr16:64967800-64981600	Weak transcription	Fetal Stomach	stomach
11	chr16:64968000-64968400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:64968200-64976600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:64968400-64968600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:64968600-64978400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:64975000-64980200	Weak transcription	NH-A	brain
16	chr16:64975400-64980800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:64975600-64979000	Weak transcription	HSMM	muscle
18	chr16:64976000-64980600	Weak transcription	NHDF-Ad	bronchial
19	chr16:64976400-64981000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:64976600-64977000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:64977000-64979400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:64977200-64978800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr16:64977200-64979600	Weak transcription	Osteobl	bone
24	chr16:64977400-64981400	Weak transcription	Fetal Muscle Leg	muscle
25	chr16:64977800-64978000	Enhancers	Ovary	ovary
26	chr16:64977800-64981600	Weak transcription	HUVEC	blood vessel
27	chr16:64978000-64981600	Weak transcription	Ovary	ovary
28	chr16:64978200-64980200	Weak transcription	Brain Germinal Matrix	brain
29	chr16:64978200-64981200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr16:64978400-64979200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:64978400-64981400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:64978400-64981400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr16:64978400-64981800	Weak transcription	Gastric	stomach
34	chr16:64978400-64983600	Weak transcription	Fetal Brain Male	brain
35	chr16:64978600-64983600	Weak transcription	Fetal Kidney	kidney
36	chr16:64978800-64980800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:64978800-64983800	Weak transcription	Brain Hippocampus Middle	brain
38	chr16:64978800-64985800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:64979000-64981200	Weak transcription	Fetal Lung	lung
40	chr16:64979000-64985800	Strong transcription	HSMM	muscle
41	chr16:64979000-64998000	Weak transcription	HMEC	breast
42	chr16:64979200-64979600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:64979200-64980800	Weak transcription	NHLF	lung
44	chr16:64979400-64979600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:64979400-64979800	Weak transcription	Aorta	Aorta
46	chr16:64979400-64981000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:64979400-64981400	Weak transcription	Brain Anterior Caudate	brain
48	chr16:64979400-64983600	Weak transcription	Brain Angular Gyrus	brain
49	chr16:64979400-64984000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr16:64979400-64985400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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