Variant report

Variant	nsv520847
Chromosome Location	chr16:76213989-76230778
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: 785 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2042378	chr16:76213989-76213990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538431867	chr16:76213990-76213991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16943946	chr16:76214023-76214024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575398298	chr16:76214030-76214031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569710369	chr16:76214042-76214043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537984240	chr16:76214056-76214057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142699552	chr16:76214063-76214064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114423618	chr16:76214092-76214093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145997202	chr16:76214104-76214105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558706516	chr16:76214154-76214155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76129062	chr16:76214185-76214186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560603347	chr16:76214188-76214189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185843354	chr16:76214218-76214219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546072998	chr16:76214265-76214266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563144874	chr16:76214274-76214275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531647155	chr16:76214297-76214298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548285508	chr16:76214303-76214304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561712532	chr16:76214311-76214312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527699998	chr16:76214329-76214330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547797466	chr16:76214336-76214337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566636926	chr16:76214421-76214422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538962857	chr16:76214435-76214436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552081157	chr16:76214442-76214443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139595800	chr16:76214462-76214463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16943950	chr16:76214494-76214495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116079041	chr16:76214508-76214509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574614065	chr16:76214546-76214547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2068767	chr16:76214593-76214594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs74024926	chr16:76214596-76214597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190659221	chr16:76214612-76214613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546479825	chr16:76214640-76214641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540750325	chr16:76214737-76214738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556297587	chr16:76214749-76214750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183469536	chr16:76214764-76214765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2068766	chr16:76214774-76214775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561823652	chr16:76214804-76214805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527818818	chr16:76214818-76214819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367738819	chr16:76214849-76214850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541056332	chr16:76214876-76214877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372090917	chr16:76214891-76214892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564548359	chr16:76214914-76214915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149720750	chr16:76214938-76214939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552463051	chr16:76214958-76214959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569047247	chr16:76214965-76214966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374586443	chr16:76215005-76215006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531513266	chr16:76215027-76215028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532971540	chr16:76215042-76215043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548440626	chr16:76215059-76215060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9806802	chr16:76215065-76215066	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187199202	chr16:76215135-76215136	Enhancers 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
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76210400-76227600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:76215000-76216800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:76215600-76216400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:76215800-76216600	Enhancers	Adipose Nuclei	Adipose
5	chr16:76216000-76216200	Enhancers	Brain Cingulate Gyrus	brain
6	chr16:76216000-76216400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:76216000-76216600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:76216400-76216800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:76216800-76217200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:76226400-76229000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr16:76226600-76228400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr16:76226800-76229200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr16:76227000-76227200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:76227200-76227400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:76227200-76229000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr16:76227200-76229200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:76227200-76229400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr16:76227200-76229400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:76227400-76227600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr16:76227400-76227600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:76227400-76227600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:76227400-76228000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr16:76227400-76228200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr16:76227400-76228400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:76227400-76229000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr16:76227400-76229000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:76227400-76229200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr16:76227400-76229200	Enhancers	HMEC	breast
29	chr16:76227400-76229400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr16:76227400-76229400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:76227600-76228000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:76227600-76228200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:76227600-76229000	Enhancers	Fetal Intestine Large	intestine
34	chr16:76227600-76229200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:76227600-76229200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:76227800-76228000	Enhancers	Adipose Nuclei	Adipose
37	chr16:76227800-76228000	Enhancers	Brain Cingulate Gyrus	brain
38	chr16:76227800-76228800	Active TSS	Brain Substantia Nigra	brain
39	chr16:76227800-76229000	Enhancers	Brain Anterior Caudate	brain
40	chr16:76228000-76228200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:76228000-76228200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr16:76228000-76228400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr16:76228000-76228600	Active TSS	Brain Cingulate Gyrus	brain
44	chr16:76228000-76228800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:76228000-76229000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr16:76228200-76228400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:76228200-76228400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr16:76228200-76228600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:76228200-76228800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr16:76228200-76229200	Enhancers	Brain Hippocampus Middle	brain

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