Variant report

Variant	nsv882793
Chromosome Location	chr5:120208192-120296787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:120211985..120214324-chr5:120217571..120220442,2	K562	blood:
2	chr5:120250931..120253908-chr5:120254077..120258114,3	K562	blood:
3	chr5:120250931..120253908-chr5:120255261..120258114,2	K562	blood:
4	chr5:120250931..120253908-chr5:120255261..120258114,2	K562	blood:
5	chr5:120211985..120214324-chr5:120217571..120220442,2	K562	blood:
6	chr5:120250931..120253908-chr5:120254077..120258114,3	K562	blood:

Extended variants
information (count: 1806 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1806 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6878559	chr5:120208192-120208193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574597288	chr5:120208202-120208203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142583289	chr5:120208232-120208233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560406170	chr5:120208237-120208238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527670840	chr5:120208247-120208248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577600069	chr5:120208272-120208273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544966945	chr5:120208283-120208284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147928609	chr5:120208321-120208322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564218669	chr5:120208330-120208331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531724675	chr5:120208347-120208348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191887154	chr5:120208348-120208349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145806313	chr5:120208407-120208408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376576347	chr5:120208421-120208422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568530275	chr5:120208434-120208435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536047354	chr5:120208436-120208437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10040090	chr5:120208470-120208471	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs367762976	chr5:120208518-120208519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566415624	chr5:120208561-120208562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371883875	chr5:120208563-120208564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558622175	chr5:120208571-120208572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544439186	chr5:120208587-120208588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141698547	chr5:120208682-120208683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372926757	chr5:120208702-120208703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145562543	chr5:120208744-120208745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574508320	chr5:120208755-120208756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10463730	chr5:120208765-120208766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182888612	chr5:120208781-120208782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187322945	chr5:120208796-120208797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78738827	chr5:120208803-120208804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564104724	chr5:120208822-120208823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531617924	chr5:120208830-120208831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147735853	chr5:120208838-120208839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141109221	chr5:120208843-120208844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150187117	chr5:120208853-120208854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548015167	chr5:120208875-120208876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190237275	chr5:120208906-120208907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540106008	chr5:120208918-120208919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138739619	chr5:120208933-120208934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532501202	chr5:120208936-120208937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367698591	chr5:120208937-120208938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566002149	chr5:120208983-120208984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562217833	chr5:120209003-120209004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10050852	chr5:120209016-120209017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537857991	chr5:120209030-120209031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544346964	chr5:120209078-120209079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562985762	chr5:120209108-120209109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148952450	chr5:120209115-120209116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574524191	chr5:120209118-120209119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533200969	chr5:120209226-120209227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535270913	chr5:120209234-120209235	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120207600-120210000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:120207600-120210400	Enhancers	Fetal Lung	lung
3	chr5:120208000-120210200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:120208600-120209800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:120208800-120209200	Enhancers	HUVEC	blood vessel
6	chr5:120222200-120222400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:120222200-120222600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:120222400-120227400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:120227400-120227800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:120228000-120228200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:120236800-120237600	Enhancers	Dnd41	blood
12	chr5:120246200-120246800	Enhancers	Fetal Lung	lung
13	chr5:120246600-120247000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:120247000-120249000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:120248400-120248800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:120248800-120254200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:120249000-120249400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:120249000-120249400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:120249000-120249400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:120249400-120253000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:120249400-120253000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:120253000-120253400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:120253000-120253400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:120254200-120254600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:120254200-120254600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:120254200-120254800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:120254200-120254800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:120263400-120264000	Enhancers	Liver	Liver
29	chr5:120269200-120269400	Enhancers	Dnd41	blood
30	chr5:120269400-120274200	Weak transcription	Dnd41	blood
31	chr5:120272400-120273400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:120273200-120273400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:120273400-120289200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:120273600-120274600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr5:120274000-120274600	Enhancers	Liver	Liver
36	chr5:120274200-120275200	Enhancers	Dnd41	blood
37	chr5:120274600-120275600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:120275200-120277800	Weak transcription	Dnd41	blood
39	chr5:120275800-120276000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr5:120277400-120278800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:120277400-120279000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:120277400-120279000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr5:120277600-120278200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:120277600-120278600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr5:120277600-120278600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:120277600-120279000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:120277600-120279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:120277600-120279400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:120277800-120278800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr5:120277800-120279000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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