Variant report

Variant	nsv933998
Chromosome Location	chr5:90041197-90041595
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	chr5:90033178..90036416-chr5:90039651..90042855,4	K562	blood:
2	chr5:90036431..90041664-chr5:90043469..90047392,6	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568135487	chr5:90041207-90041208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2438357	chr5:90041225-90041226	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs556816682	chr5:90041231-90041232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371380577	chr5:90041274-90041275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188075326	chr5:90041287-90041288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74959352	chr5:90041288-90041289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192120579	chr5:90041297-90041298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573202332	chr5:90041351-90041352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371595251	chr5:90041367-90041368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148469234	chr5:90041384-90041385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75732872	chr5:90041410-90041411	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs145294917	chr5:90041434-90041435	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs566526160	chr5:90041458-90041459	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575269452	chr5:90041495-90041496	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs17624033	chr5:90041510-90041511	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs564470089	chr5:90041520-90041521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs376682480	chr5:90041562-90041563	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs13171868	chr5:90041574-90041575	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs200106260	chr5:90041590-90041591	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90019800-90043000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:90022400-90074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:90024800-90044000	Weak transcription	Brain Germinal Matrix	brain
4	chr5:90025000-90043000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:90034600-90059600	Weak transcription	Brain Anterior Caudate	brain
6	chr5:90036000-90041400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:90036200-90066000	Weak transcription	Pancreas	Pancrea
8	chr5:90036600-90059800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:90036800-90043000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:90036800-90043000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:90037000-90042800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:90037200-90058600	Weak transcription	Fetal Brain Female	brain
13	chr5:90038200-90064400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:90039200-90041600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:90039800-90043000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:90039800-90082000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:90040000-90042600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:90040000-90042600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:90040600-90042200	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr5:90040800-90041600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:90040800-90043000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:90040800-90044000	Strong transcription	K562	blood
23	chr5:90040800-90050200	Weak transcription	Fetal Brain Male	brain
24	chr5:90041000-90042400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:90041000-90042800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:90041400-90042600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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