Variant report

Variant	nsv1034732
Chromosome Location	chr5:90834465-90925707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90887217..90889978-chr5:90892258..90893806,2	K562	blood:
2	chr5:90887217..90891281-chr5:90892258..90895020,3	K562	blood:
3	chr5:90887217..90889978-chr5:90892258..90893806,2	K562	blood:
4	chr5:90922690..90924443-chr5:90926214..90928210,2	K562	blood:
5	chr5:90887217..90891281-chr5:90892258..90895020,3	K562	blood:
6	chr5:90872909..90874453-chr5:90877132..90879555,2	K562	blood:
7	chr5:90872909..90874453-chr5:90877132..90879555,2	K562	blood:

Extended variants
information (count: 828 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:828 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549698658	chr5:90834491-90834492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185158857	chr5:90834498-90834499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138160226	chr5:90834499-90834500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113937019	chr5:90834504-90834505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565305048	chr5:90834515-90834516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372035127	chr5:90834522-90834523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56829348	chr5:90834555-90834556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111902229	chr5:90834600-90834601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548427598	chr5:90834638-90834639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17579567	chr5:90834653-90834654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs367757068	chr5:90834732-90834733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557249648	chr5:90834737-90834738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs332525	chr5:90834786-90834787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs34856844	chr5:90834794-90834795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190497612	chr5:90834879-90834880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116551054	chr5:90834900-90834901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561803149	chr5:90834912-90834913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573224562	chr5:90834931-90834932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76063916	chr5:90834943-90834944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574627210	chr5:90834996-90834997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543729626	chr5:90834998-90834999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563312285	chr5:90835068-90835069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571769557	chr5:90835081-90835082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1593059	chr5:90835085-90835086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551815068	chr5:90835108-90835109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559026441	chr5:90835119-90835120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528219247	chr5:90835121-90835122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564078521	chr5:90835131-90835132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10042221	chr5:90835224-90835225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568074192	chr5:90835291-90835292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182160377	chr5:90835306-90835307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1593060	chr5:90835314-90835315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570915394	chr5:90835365-90835366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114815117	chr5:90835389-90835390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143063304	chr5:90835411-90835412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569909237	chr5:90835515-90835516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535986735	chr5:90835519-90835520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555455941	chr5:90835524-90835525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575618137	chr5:90835525-90835526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543320974	chr5:90835529-90835530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186782240	chr5:90835544-90835545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576583658	chr5:90835631-90835632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545590700	chr5:90835645-90835646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34359212	chr5:90835674-90835675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12108929	chr5:90835733-90835734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548780925	chr5:90835747-90835748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528159785	chr5:90835783-90835784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541545917	chr5:90835787-90835788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561491246	chr5:90835788-90835789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574261858	chr5:90838032-90838033	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90833200-90835800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:90838000-90839400	Enhancers	Fetal Heart	heart
3	chr5:90858200-90858600	Enhancers	Aorta	Aorta
4	chr5:90858600-90858800	Enhancers	Esophagus	oesophagus
5	chr5:90858800-90861800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:90881800-90882200	Enhancers	HepG2	liver
7	chr5:90885200-90888400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:90894000-90894200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:90894200-90894400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:90894200-90894800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:90894400-90895000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:90894800-90896200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:90895000-90896600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:90895000-90896800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:90895200-90895800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:90895200-90896000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:90895600-90896600	Enhancers	Brain Germinal Matrix	brain
18	chr5:90903000-90904200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:90903000-90905000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:90904200-90906600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:90905000-90907600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:90906000-90906800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:90906600-90907200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:90907200-90907600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:90907600-90907800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:90907600-90909800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:90907800-90908800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:90908800-90909600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:90909800-90914000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:90913800-90914600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:90914000-90914600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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