Variant report

Variant	nsv1064158
Chromosome Location	chr16:82919690-82935671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82919356..82921414-chr16:82923083..82925361,3	MCF-7	breast:
2	chr16:82919356..82921414-chr16:82923083..82925361,3	MCF-7	breast:
3	chr11:8709011..8709547-chr16:82921368..82921888,2	HCT-116	colon:

Extended variants
information (count: 984 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:984 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4783293	chr16:82919690-82919691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116278608	chr16:82919724-82919725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138045830	chr16:82919725-82919726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575181783	chr16:82919726-82919727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186388240	chr16:82919778-82919779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191235003	chr16:82919781-82919782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182736065	chr16:82919782-82919783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544455894	chr16:82919795-82919796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555318271	chr16:82919831-82919832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575245156	chr16:82919851-82919852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111427799	chr16:82919867-82919868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535692176	chr16:82919879-82919880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145994822	chr16:82919901-82919902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370575931	chr16:82919943-82919944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148645206	chr16:82919946-82919947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544789630	chr16:82919953-82919954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547637053	chr16:82919973-82919974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574624691	chr16:82919983-82919984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564694619	chr16:82919993-82919994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566053735	chr16:82920013-82920014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142112127	chr16:82920015-82920016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115288888	chr16:82920016-82920017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114565847	chr16:82920034-82920035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111323404	chr16:82920039-82920040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150721613	chr16:82920046-82920047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550138132	chr16:82920055-82920056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114281143	chr16:82920089-82920090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138987741	chr16:82920105-82920106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35811688	chr16:82920114-82920115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187367866	chr16:82920119-82920120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558507297	chr16:82920137-82920138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372757828	chr16:82920146-82920147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531320973	chr16:82920151-82920152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199754887	chr16:82920166-82920167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71945967	chr16:82920177-82920178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57766888	chr16:82920178-82920179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548910058	chr16:82920195-82920196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576788838	chr16:82920205-82920206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566243987	chr16:82920235-82920236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535215262	chr16:82920253-82920254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548829777	chr16:82920284-82920285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190873270	chr16:82920296-82920297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537386567	chr16:82920305-82920306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183422993	chr16:82920317-82920318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187546221	chr16:82920319-82920320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376997711	chr16:82920385-82920386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538702134	chr16:82920391-82920392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192771184	chr16:82920411-82920412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184436300	chr16:82920429-82920430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113454926	chr16:82920435-82920436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82905600-82921000	Weak transcription	Fetal Muscle Leg	muscle
2	chr16:82905800-82924800	Weak transcription	HSMM	muscle
3	chr16:82905800-82925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:82908800-82922000	Weak transcription	Aorta	Aorta
5	chr16:82909800-82921600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:82910400-82932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:82911000-82921800	Weak transcription	HSMMtube	muscle
8	chr16:82912800-82921600	Weak transcription	Colon Smooth Muscle	Colon
9	chr16:82913000-82921800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:82915200-82922200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:82915400-82920800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr16:82915600-82922000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:82915800-82953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:82916200-82922000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:82916800-82922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:82917400-82922000	Weak transcription	Right Ventricle	heart
17	chr16:82917600-82922000	Weak transcription	Right Atrium	heart
18	chr16:82918000-82921600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr16:82918200-82920800	Weak transcription	Psoas Muscle	Psoas
20	chr16:82918200-82920800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:82918200-82921800	Weak transcription	Left Ventricle	heart
22	chr16:82918800-82933400	Weak transcription	NHEK	skin
23	chr16:82920800-82922400	Enhancers	Psoas Muscle	Psoas
24	chr16:82920800-82922600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr16:82920800-82922600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr16:82920800-82922800	Enhancers	Fetal Stomach	stomach
27	chr16:82921000-82921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:82921000-82922600	Enhancers	Fetal Muscle Leg	muscle
29	chr16:82921200-82922000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:82921600-82922000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:82921600-82922000	Enhancers	Stomach Smooth Muscle	stomach
32	chr16:82921600-82923000	Enhancers	Colon Smooth Muscle	Colon
33	chr16:82921800-82922000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:82921800-82922200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:82921800-82922200	Enhancers	Fetal Muscle Trunk	muscle
36	chr16:82921800-82922200	Enhancers	NHLF	lung
37	chr16:82921800-82922400	Enhancers	HSMMtube	muscle
38	chr16:82921800-82922600	Enhancers	Left Ventricle	heart
39	chr16:82921800-82922600	Enhancers	Rectal Smooth Muscle	rectum
40	chr16:82921800-82923200	Enhancers	Fetal Intestine Large	intestine
41	chr16:82921800-82923200	Enhancers	Fetal Intestine Small	intestine
42	chr16:82922000-82922200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:82922000-82922200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr16:82922000-82922200	Enhancers	Osteobl	bone
45	chr16:82922000-82922400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:82922000-82922400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr16:82922000-82922400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:82922000-82922400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr16:82922000-82922400	Enhancers	Right Ventricle	heart
50	chr16:82922000-82922600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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