Variant report

Variant	nsv471096
Chromosome Location	chr16:76186991-76230778
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	chr16:76230231..76230851-chr2:70141294..70141952,2	Hela-S3	cervix:

Extended variants
information (count: 1096 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1096 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115427911	chr16:76195206-76195207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570947993	chr16:76195230-76195231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185986965	chr16:76195234-76195235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558044556	chr16:76195250-76195251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368012612	chr16:76195253-76195254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111334339	chr16:76195265-76195266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569830167	chr16:76195268-76195269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535587584	chr16:76195289-76195290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376011147	chr16:76195290-76195291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555317579	chr16:76195317-76195318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190957647	chr16:76195350-76195351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180950410	chr16:76195391-76195392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185288886	chr16:76195401-76195402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57109711	chr16:76195453-76195454	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576920037	chr16:76195462-76195463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553774468	chr16:76195513-76195514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60251284	chr16:76195515-76195516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182773228	chr16:76195535-76195536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541974855	chr16:76195545-76195546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561664800	chr16:76195560-76195561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527325008	chr16:76195561-76195562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187488863	chr16:76195572-76195573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16943919	chr16:76195605-76195606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147494856	chr16:76195607-76195608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550332941	chr16:76195616-76195617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75621182	chr16:76195674-76195675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192199635	chr16:76195735-76195736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61656234	chr16:76195768-76195769	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs55994904	chr16:76195799-76195800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571682430	chr16:76195802-76195803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535018479	chr16:76195817-76195818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184087123	chr16:76195831-76195832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577086040	chr16:76195840-76195841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539388348	chr16:76195854-76195855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34510351	chr16:76195866-76195867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556373423	chr16:76195885-76195886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55881740	chr16:76195895-76195896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148537320	chr16:76195920-76195921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561776479	chr16:76195923-76195924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187835574	chr16:76195932-76195933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541037361	chr16:76195961-76195962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs767698	chr16:76195973-76195974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545223476	chr16:76195975-76195976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192166197	chr16:76195999-76196000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2432423	chr16:76196005-76196006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs60785739	chr16:76196008-76196009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs55635438	chr16:76196058-76196059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184484666	chr16:76196061-76196062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549017590	chr16:76196070-76196071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150621274	chr16:76196100-76196101	Enhancers	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
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76195200-76196200	Enhancers	Brain Substantia Nigra	brain
2	chr16:76196200-76196600	Weak transcription	Brain Substantia Nigra	brain
3	chr16:76196600-76197000	Enhancers	Brain Substantia Nigra	brain
4	chr16:76210000-76210400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:76210000-76210600	Active TSS	GM12878-XiMat	blood
6	chr16:76210400-76227600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:76215000-76216800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:76215600-76216400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:76215800-76216600	Enhancers	Adipose Nuclei	Adipose
10	chr16:76216000-76216200	Enhancers	Brain Cingulate Gyrus	brain
11	chr16:76216000-76216400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:76216000-76216600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:76216400-76216800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:76216800-76217200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:76226400-76229000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr16:76226600-76228400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr16:76226800-76229200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr16:76227000-76227200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:76227200-76227400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:76227200-76229000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr16:76227200-76229200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:76227200-76229400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr16:76227200-76229400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:76227400-76227600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr16:76227400-76227600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:76227400-76227600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:76227400-76228000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr16:76227400-76228200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr16:76227400-76228400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:76227400-76229000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr16:76227400-76229000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:76227400-76229200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr16:76227400-76229200	Enhancers	HMEC	breast
34	chr16:76227400-76229400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr16:76227400-76229400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:76227600-76228000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:76227600-76228200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:76227600-76229000	Enhancers	Fetal Intestine Large	intestine
39	chr16:76227600-76229200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:76227600-76229200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:76227800-76228000	Enhancers	Adipose Nuclei	Adipose
42	chr16:76227800-76228000	Enhancers	Brain Cingulate Gyrus	brain
43	chr16:76227800-76228800	Active TSS	Brain Substantia Nigra	brain
44	chr16:76227800-76229000	Enhancers	Brain Anterior Caudate	brain
45	chr16:76228000-76228200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:76228000-76228200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr16:76228000-76228400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr16:76228000-76228600	Active TSS	Brain Cingulate Gyrus	brain
49	chr16:76228000-76228800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:76228000-76229000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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