Variant report

Variant	nsv906953
Chromosome Location	chr16:77125102-77152334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:77129914..77131450-chr16:77133881..77136315,2	K562	blood:
2	chr16:77129914..77131450-chr16:77133881..77136315,2	K562	blood:
3	chr16:77117943..77120097-chr16:77124904..77127006,2	MCF-7	breast:

Extended variants
information (count: 1164 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1164 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9929566	chr16:77125102-77125103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545273405	chr16:77125128-77125129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535252155	chr16:77125129-77125130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146757484	chr16:77125158-77125159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113117100	chr16:77125195-77125196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572217596	chr16:77125196-77125197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183478583	chr16:77125198-77125199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62046982	chr16:77125221-77125222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539141824	chr16:77125228-77125229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138986911	chr16:77125231-77125232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374857077	chr16:77125234-77125235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35832202	chr16:77125284-77125285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577286084	chr16:77125310-77125311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190787	chr16:77125328-77125329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546366251	chr16:77125347-77125348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188211	chr16:77125385-77125386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377125788	chr16:77125398-77125399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562961332	chr16:77125465-77125466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188825322	chr16:77125486-77125487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542030609	chr16:77125523-77125524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190631720	chr16:77125546-77125547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140380404	chr16:77125553-77125554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28479498	chr16:77125567-77125568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537159399	chr16:77125622-77125623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183509396	chr16:77125625-77125626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572348147	chr16:77125632-77125633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532758517	chr16:77125654-77125655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377253081	chr16:77125704-77125705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs636425	chr16:77125714-77125715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs569601217	chr16:77125793-77125794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113331296	chr16:77125836-77125837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28566981	chr16:77125851-77125852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187842429	chr16:77125864-77125865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565851583	chr16:77125865-77125866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16945226	chr16:77125878-77125879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558080494	chr16:77125893-77125894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577349957	chr16:77125912-77125913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542902437	chr16:77125947-77125948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142625083	chr16:77125999-77126000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556716273	chr16:77126048-77126049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576427159	chr16:77126086-77126087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542294261	chr16:77126111-77126112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191499499	chr16:77126112-77126113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150992909	chr16:77126163-77126164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541369544	chr16:77126185-77126186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573489596	chr16:77126207-77126208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140818977	chr16:77126225-77126226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532766015	chr16:77126248-77126249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150232203	chr16:77126294-77126295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563410753	chr16:77126301-77126302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77124200-77127400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr16:77127400-77128800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr16:77128800-77133600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr16:77133200-77134000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:77133600-77134000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:77134400-77134600	Enhancers	Fetal Lung	lung
7	chr16:77134800-77135800	Weak transcription	Fetal Lung	lung
8	chr16:77135200-77136400	Enhancers	Fetal Stomach	stomach
9	chr16:77135800-77136200	Enhancers	Fetal Lung	lung
10	chr16:77136000-77136400	Enhancers	Fetal Heart	heart
11	chr16:77137600-77138600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr16:77138200-77138600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr16:77138200-77138600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr16:77138200-77138600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr16:77141000-77141800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:77141800-77145000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:77145000-77145200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:77145200-77145800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:77145600-77146200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:77145800-77146000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:77145800-77147000	Enhancers	Primary T cells from cord blood	blood
22	chr16:77146000-77152800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:77146200-77147200	Enhancers	Fetal Lung	lung
24	chr16:77146200-77147800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr16:77146200-77149400	Enhancers	Hela-S3	cervix
26	chr16:77147000-77148000	Weak transcription	Primary T cells from cord blood	blood
27	chr16:77147200-77150800	Weak transcription	Fetal Lung	lung
28	chr16:77147600-77149000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr16:77147800-77149400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr16:77148000-77148200	Enhancers	Primary T cells from cord blood	blood
31	chr16:77148000-77148400	Enhancers	Fetal Heart	heart
32	chr16:77148000-77149600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr16:77148400-77151600	Weak transcription	Fetal Heart	heart
34	chr16:77149600-77151600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr16:77150800-77151000	Enhancers	Fetal Lung	lung
36	chr16:77151000-77151400	Weak transcription	Fetal Lung	lung
37	chr16:77151400-77153200	Enhancers	Fetal Lung	lung
38	chr16:77151600-77152200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr16:77151600-77152200	Enhancers	Fetal Heart	heart
40	chr16:77152200-77152800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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