Variant report

Variant	nsv521316
Chromosome Location	chr5:125111363-125134363
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: 552 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17153274	chr5:125111363-125111364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115910996	chr5:125111406-125111407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574390243	chr5:125111482-125111483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543214348	chr5:125111486-125111487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553770302	chr5:125111500-125111501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571903480	chr5:125111507-125111508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545883951	chr5:125111539-125111540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563809011	chr5:125111543-125111544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150563218	chr5:125111554-125111555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115556487	chr5:125111561-125111562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368999252	chr5:125111581-125111582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372442868	chr5:125111602-125111603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184735602	chr5:125111625-125111626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190391790	chr5:125111628-125111629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138421555	chr5:125111688-125111689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527658927	chr5:125111692-125111693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1473194	chr5:125111705-125111706	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570991622	chr5:125111754-125111755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538319899	chr5:125111781-125111782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550046907	chr5:125111793-125111794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192126447	chr5:125111862-125111863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535746360	chr5:125111890-125111891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149276140	chr5:125111918-125111919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530505842	chr5:125111941-125111942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572027470	chr5:125112012-125112013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144429181	chr5:125112024-125112025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139487670	chr5:125112034-125112035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1473195	chr5:125112063-125112064	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73328948	chr5:125112090-125112091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562755829	chr5:125112121-125112122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4836214	chr5:125112135-125112136	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116590734	chr5:125112139-125112140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373263444	chr5:125112140-125112141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144912814	chr5:125112175-125112176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527972351	chr5:125112176-125112177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552629833	chr5:125112216-125112217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184173280	chr5:125112250-125112251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189407314	chr5:125112277-125112278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377329529	chr5:125112280-125112281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568261742	chr5:125112287-125112288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535264019	chr5:125112301-125112302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147547775	chr5:125112320-125112321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181771597	chr5:125112370-125112371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539718722	chr5:125112371-125112372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557373460	chr5:125112390-125112391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186221769	chr5:125112406-125112407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189162427	chr5:125112411-125112412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74618548	chr5:125112417-125112418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370584492	chr5:125112424-125112425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574993158	chr5:125112433-125112434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:125106200-125112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:125110200-125111400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:125111400-125112800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:125111400-125112800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:125111600-125112400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:125111800-125112000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:125112000-125113400	Enhancers	Fetal Heart	heart
8	chr5:125112000-125114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:125112200-125113200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:125112800-125114400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:125113000-125113400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:125113400-125113800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:125113800-125116000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:125114200-125114600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:125114400-125114600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:125114400-125115400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:125114600-125115000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:125114800-125115600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:125115000-125115400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:125121800-125122000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:125121800-125123200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:125121800-125123400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:125122000-125122600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:125122000-125123400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:125122200-125122800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:125122200-125123200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:125122400-125123600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:125123200-125123600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:125129000-125130000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:125129400-125129800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr5:125130000-125148200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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