Variant report

Variant	nsv1056027
Chromosome Location	chr16:77138446-77171353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1395 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1395 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs679169	chr16:77138446-77138447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78568779	chr16:77138454-77138455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181420997	chr16:77138558-77138559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141400344	chr16:77138580-77138581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6564387	chr16:77138585-77138586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs575474991	chr16:77138589-77138590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544096008	chr16:77138590-77138591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182695761	chr16:77141008-77141009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370327438	chr16:77141012-77141013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373737513	chr16:77141021-77141022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527261639	chr16:77141031-77141032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539617679	chr16:77141052-77141053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556321962	chr16:77141060-77141061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570040684	chr16:77141066-77141067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535740989	chr16:77141081-77141082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187936667	chr16:77141086-77141087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547116953	chr16:77141090-77141091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367611639	chr16:77141151-77141152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541123336	chr16:77141156-77141157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11645256	chr16:77141159-77141160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs199687565	chr16:77141172-77141173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545417451	chr16:77141176-77141177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141958047	chr16:77141189-77141190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193161887	chr16:77141197-77141198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563452321	chr16:77141235-77141236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529251712	chr16:77141240-77141241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34244240	chr16:77141276-77141277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562125489	chr16:77141303-77141304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370332749	chr16:77141304-77141305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547894424	chr16:77141330-77141331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199916026	chr16:77141331-77141332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78729158	chr16:77141332-77141333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550006450	chr16:77141333-77141334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201398963	chr16:77141334-77141335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200639517	chr16:77141336-77141337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201619767	chr16:77141337-77141338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72460980	chr16:77141338-77141339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148262434	chr16:77141363-77141364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536155163	chr16:77141402-77141403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549959484	chr16:77141458-77141459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183229506	chr16:77141468-77141469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375524809	chr16:77141471-77141472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs80264218	chr16:77141535-77141536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569891015	chr16:77141540-77141541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115231025	chr16:77141549-77141550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189130147	chr16:77141566-77141567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577841516	chr16:77141567-77141568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543539916	chr16:77141572-77141573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557234582	chr16:77141583-77141584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573843054	chr16:77141588-77141589	Enhancers	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77137600-77138600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr16:77138200-77138600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr16:77138200-77138600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr16:77138200-77138600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr16:77141000-77141800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:77141800-77145000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr16:77145000-77145200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:77145200-77145800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:77145600-77146200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr16:77145800-77146000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:77145800-77147000	Enhancers	Primary T cells from cord blood	blood
12	chr16:77146000-77152800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:77146200-77147200	Enhancers	Fetal Lung	lung
14	chr16:77146200-77147800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:77146200-77149400	Enhancers	Hela-S3	cervix
16	chr16:77147000-77148000	Weak transcription	Primary T cells from cord blood	blood
17	chr16:77147200-77150800	Weak transcription	Fetal Lung	lung
18	chr16:77147600-77149000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr16:77147800-77149400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:77148000-77148200	Enhancers	Primary T cells from cord blood	blood
21	chr16:77148000-77148400	Enhancers	Fetal Heart	heart
22	chr16:77148000-77149600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr16:77148400-77151600	Weak transcription	Fetal Heart	heart
24	chr16:77149600-77151600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:77150800-77151000	Enhancers	Fetal Lung	lung
26	chr16:77151000-77151400	Weak transcription	Fetal Lung	lung
27	chr16:77151400-77153200	Enhancers	Fetal Lung	lung
28	chr16:77151600-77152200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr16:77151600-77152200	Enhancers	Fetal Heart	heart
30	chr16:77152200-77152800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:77152800-77153000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr16:77152800-77154800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:77153200-77155200	Weak transcription	Fetal Lung	lung
34	chr16:77154200-77155400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr16:77155200-77155800	Enhancers	Fetal Lung	lung
36	chr16:77156800-77158400	Enhancers	Hela-S3	cervix
37	chr16:77159200-77161800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr16:77159800-77160000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:77160000-77160600	Enhancers	Fetal Stomach	stomach
40	chr16:77160200-77161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:77160400-77160800	Enhancers	Fetal Kidney	kidney
42	chr16:77161200-77161600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:77162200-77162600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr16:77162600-77162800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr16:77162600-77164200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:77162800-77164000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr16:77163400-77165600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:77163800-77164600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr16:77164000-77164400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr16:77164000-77164400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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