Variant report

Variant	nsv906745
Chromosome Location	chr16:59323025-59408342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:59390555..59392761-chr16:59393637..59395380,2	K562	blood:
2	chr16:59388705..59390354-chr16:59392227..59393861,2	K562	blood:
3	chr16:59388705..59390354-chr16:59392227..59393861,2	K562	blood:
4	chr16:59390555..59392761-chr16:59393637..59395380,2	K562	blood:

Extended variants
information (count: 2292 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2292 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112579157	chr16:59324612-59324613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575721983	chr16:59324640-59324641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374559753	chr16:59324737-59324738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367559398	chr16:59324760-59324761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147771129	chr16:59324792-59324793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553994061	chr16:59324819-59324820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75251478	chr16:59324836-59324837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148832707	chr16:59324837-59324838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549646230	chr16:59324840-59324841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567814354	chr16:59324855-59324856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77292635	chr16:59324861-59324862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576379017	chr16:59324979-59324980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143485406	chr16:59325030-59325031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565118837	chr16:59325037-59325038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532680570	chr16:59325091-59325092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556758987	chr16:59325133-59325134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547909280	chr16:59325141-59325142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559627508	chr16:59325158-59325159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529869499	chr16:59325159-59325160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539534677	chr16:59325162-59325163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569900645	chr16:59325166-59325167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28430285	chr16:59325198-59325199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182197698	chr16:59325244-59325245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552180509	chr16:59325248-59325249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573612963	chr16:59325268-59325269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148012669	chr16:59325297-59325298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7198887	chr16:59325326-59325327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs28444929	chr16:59325331-59325332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78151512	chr16:59325360-59325361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34188101	chr16:59325376-59325377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557594241	chr16:59325382-59325383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554977470	chr16:59325414-59325415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576707266	chr16:59325415-59325416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543736024	chr16:59325416-59325417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558955941	chr16:59325417-59325418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7204255	chr16:59325499-59325500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541540945	chr16:59325520-59325521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191103285	chr16:59325575-59325576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529931028	chr16:59325612-59325613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542043652	chr16:59325613-59325614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563318300	chr16:59325727-59325728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570545128	chr16:59325738-59325739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371508913	chr16:59325763-59325764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57945273	chr16:59325777-59325778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552181448	chr16:59325796-59325797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570125719	chr16:59325797-59325798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141501842	chr16:59325819-59325820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542609681	chr16:59325822-59325823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546308578	chr16:59325852-59325853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372256090	chr16:59325904-59325905	Weak transcription Enhancers	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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59324600-59325200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:59325200-59329200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:59325800-59326800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:59326800-59327200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:59327200-59327400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:59327400-59329200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:59327400-59329800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr16:59329000-59329400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:59329000-59331200	Enhancers	Fetal Lung	lung
10	chr16:59329200-59329400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr16:59329200-59329400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:59329200-59329800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr16:59329200-59331000	Enhancers	Fetal Stomach	stomach
14	chr16:59329200-59331400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:59329400-59329800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr16:59329400-59329800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:59329400-59330800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:59329600-59330200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:59329800-59330000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr16:59329800-59330200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:59329800-59330200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr16:59329800-59330400	Enhancers	Adipose Nuclei	Adipose
23	chr16:59329800-59330400	Enhancers	A549	lung
24	chr16:59329800-59330600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:59329800-59331000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr16:59329800-59331000	Enhancers	HSMMtube	muscle
27	chr16:59329800-59331000	Enhancers	NHLF	lung
28	chr16:59329800-59331200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr16:59329800-59331400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr16:59329800-59331600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr16:59330200-59330400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:59330200-59330600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr16:59330200-59331600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:59330600-59331000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr16:59330600-59331600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr16:59330800-59332000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:59331400-59333200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr16:59332000-59362600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:59333200-59333600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr16:59335400-59335600	Enhancers	Pancreas	Pancrea
41	chr16:59339400-59339600	Enhancers	A549	lung
42	chr16:59339600-59340400	Flanking Active TSS	A549	lung
43	chr16:59340400-59340800	Enhancers	A549	lung
44	chr16:59340800-59343000	Weak transcription	A549	lung
45	chr16:59343000-59343200	Enhancers	A549	lung
46	chr16:59343200-59343600	Weak transcription	A549	lung
47	chr16:59343600-59344000	Enhancers	A549	lung
48	chr16:59354200-59355000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr16:59354200-59355200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:59354400-59354800	Enhancers	HUES6 Cell Line	embryonic stem cell

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