Variant report

Variant	nsv882829
Chromosome Location	chr5:125092500-125124027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:125119673..125121868-chr5:125122611..125124329,2	K562	blood:
2	chr5:125119673..125121868-chr5:125122611..125124329,2	K562	blood:

Extended variants
information (count: 518 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539929177	chr5:125093214-125093215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570089337	chr5:125093241-125093242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531132417	chr5:125093330-125093331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138728713	chr5:125093375-125093376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10616105	chr5:125093378-125093379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558027477	chr5:125093468-125093469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557017905	chr5:125093479-125093480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111814298	chr5:125093538-125093539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565974810	chr5:125093549-125093550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55664018	chr5:125093555-125093556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141899442	chr5:125093558-125093559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79217723	chr5:125093560-125093561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534965780	chr5:125093582-125093583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540974165	chr5:125093608-125093609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147237674	chr5:125093660-125093661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532905908	chr5:125093661-125093662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551059546	chr5:125093700-125093701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370378517	chr5:125093743-125093744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116375052	chr5:125093747-125093748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189362730	chr5:125093783-125093784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550226641	chr5:125093788-125093789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568710363	chr5:125093813-125093814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181450554	chr5:125093821-125093822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112604140	chr5:125093844-125093845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547807983	chr5:125093845-125093846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566073106	chr5:125093910-125093911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140743493	chr5:125093929-125093930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144502094	chr5:125093940-125093941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73322981	chr5:125093950-125093951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116158238	chr5:125093993-125093994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575909462	chr5:125105839-125105840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543118072	chr5:125105873-125105874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561420759	chr5:125105880-125105881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs139509773	chr5:125105890-125105891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs575068838	chr5:125105908-125105909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs329158	chr5:125105946-125105947	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs58359393	chr5:125105953-125105954	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528035852	chr5:125105972-125105973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs552584774	chr5:125105989-125105990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs193281520	chr5:125106078-125106079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531559437	chr5:125106079-125106080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs150193222	chr5:125106081-125106082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs550319694	chr5:125106090-125106091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs117276023	chr5:125106091-125106092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568529516	chr5:125106100-125106101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs184905835	chr5:125106145-125106146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs554034460	chr5:125106169-125106170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565730399	chr5:125106196-125106197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539732822	chr5:125106197-125106198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs186951893	chr5:125106205-125106206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:125093200-125094000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:125093600-125094000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:125093600-125094000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:125105800-125106200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:125106200-125112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:125109800-125110000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:125110200-125111400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:125111400-125112800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:125111400-125112800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:125111600-125112400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:125111800-125112000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:125112000-125113400	Enhancers	Fetal Heart	heart
13	chr5:125112000-125114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:125112200-125113200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:125112800-125114400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:125113000-125113400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:125113400-125113800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:125113800-125116000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:125114200-125114600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:125114400-125114600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:125114400-125115400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:125114600-125115000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:125114800-125115600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:125115000-125115400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:125121800-125122000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:125121800-125123200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:125121800-125123400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:125122000-125122600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:125122000-125123400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:125122200-125122800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:125122200-125123200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:125122400-125123600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:125123200-125123600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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