Variant report

Variant	nsv933760
Chromosome Location	chr5:90012570-90015825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90012587..90015508-chr5:90022676..90025221,2	K562	blood:
2	chr5:90010535..90012763-chr5:90098417..90101148,2	K562	blood:
3	chr5:90009460..90011230-chr5:90014685..90016873,2	K562	blood:
4	chr5:90005181..90006888-chr5:90015330..90017702,2	K562	blood:
5	chr5:90007247..90014347-chr5:90014590..90019207,8	K562	blood:
6	chr5:90011449..90014347-chr5:90016654..90019207,2	K562	blood:
7	chr5:90007247..90014347-chr5:90014590..90019207,8	K562	blood:

Variant related genes	Relation type
ENSG00000164199	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370105196	chr5:90012577-90012578	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549391249	chr5:90012595-90012596	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144537252	chr5:90012609-90012610	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538765377	chr5:90012613-90012614	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10067181	chr5:90012614-90012615	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs566265457	chr5:90012659-90012660	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565183143	chr5:90012677-90012678	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534977719	chr5:90012687-90012688	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3927265	chr5:90012703-90012704	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs550811272	chr5:90012728-90012729	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73175221	chr5:90012778-90012779	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370555099	chr5:90012859-90012860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557432463	chr5:90012920-90012921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577230510	chr5:90012925-90012926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146627461	chr5:90012972-90012973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140107251	chr5:90012978-90012979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201210659	chr5:90012994-90012995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529830419	chr5:90013039-90013040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150286762	chr5:90013046-90013047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540900976	chr5:90013203-90013204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11462871	chr5:90013208-90013209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560825204	chr5:90013209-90013210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58138685	chr5:90013218-90013219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545318653	chr5:90013248-90013249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386404419	chr5:90013249-90013250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs70973704	chr5:90013269-90013270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529981307	chr5:90013335-90013336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549354916	chr5:90013364-90013365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189971161	chr5:90013374-90013375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566032820	chr5:90013408-90013409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535028867	chr5:90013429-90013430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116705656	chr5:90013433-90013434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566106075	chr5:90013468-90013469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150073216	chr5:90013506-90013507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548847965	chr5:90013524-90013525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182473970	chr5:90013531-90013532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537750468	chr5:90013557-90013558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188370626	chr5:90013597-90013598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577190977	chr5:90013708-90013709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539517292	chr5:90013715-90013716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553419009	chr5:90013721-90013722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573282091	chr5:90013750-90013751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72782758	chr5:90013806-90013807	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs13355001	chr5:90013833-90013834	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145862183	chr5:90013848-90013849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76580665	chr5:90013856-90013857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573923048	chr5:90013878-90013879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532145127	chr5:90013896-90013897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111456280	chr5:90013949-90013950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532148834	chr5:90013971-90013972	Weak transcription Strong transcription	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89950400-90033400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:89991800-90014000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:89995000-90025800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:89997800-90017600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:89998800-90018000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:90002200-90022000	Weak transcription	Brain Germinal Matrix	brain
7	chr5:90002200-90023200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:90008200-90021600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:90008200-90022000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:90010600-90035200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:90011000-90013000	Strong transcription	K562	blood
12	chr5:90011200-90027200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:90011800-90013200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:90011800-90017800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:90012200-90012800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr5:90012200-90013000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:90012200-90013200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:90012800-90016800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:90013000-90015200	Weak transcription	K562	blood
20	chr5:90013000-90021200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:90013200-90015400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:90013200-90015400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:90014000-90015200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:90015200-90017000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:90015200-90018200	Strong transcription	K562	blood
26	chr5:90015400-90016200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:90015400-90017200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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