Variant report

Variant	nsv518863
Chromosome Location	chr5:79578797-79580818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:79580580-79580811	GM12878	blood:	n/a	n/a
2	MAX	chr5:79580472-79580933	NB4	blood:	n/a	n/a
3	MYC	chr5:79580567-79580918	NB4	blood:	n/a	n/a
4	SPI1	chr5:79580639-79580839	GM12891	blood:	n/a	n/a
5	SPI1	chr5:79580601-79580888	GM12878	blood:	n/a	n/a
6	SPI1	chr5:79580653-79580825	K562	blood:	n/a	n/a
7	SPI1	chr5:79580638-79580774	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79579962..79582569-chr5:79583098..79584798,2	K562	blood:

Variant related genes	Relation type
KRT18P45	TF binding region
ENSG00000249438	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2173676	chr5:79578797-79578798	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138464227	chr5:79578816-79578817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558437322	chr5:79578829-79578830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181044438	chr5:79578883-79578884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142030692	chr5:79578901-79578902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568531242	chr5:79578918-79578919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150692649	chr5:79578985-79578986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544163922	chr5:79579013-79579014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553987282	chr5:79579023-79579024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577008575	chr5:79579029-79579030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535841594	chr5:79579054-79579055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557350363	chr5:79579064-79579065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557422018	chr5:79579137-79579138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539349700	chr5:79579159-79579160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556378270	chr5:79579183-79579184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138724524	chr5:79579209-79579210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541392400	chr5:79579303-79579304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561369911	chr5:79579320-79579321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2216548	chr5:79579376-79579377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs540764448	chr5:79579458-79579459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185515301	chr5:79579479-79579480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560508643	chr5:79579480-79579481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188717780	chr5:79579499-79579500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13171395	chr5:79579505-79579506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs75907069	chr5:79579537-79579538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149340522	chr5:79579587-79579588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532059198	chr5:79579696-79579697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56848999	chr5:79579718-79579719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80308010	chr5:79579719-79579720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79538528	chr5:79579720-79579721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548572921	chr5:79579722-79579723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397829030	chr5:79579731-79579732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200025763	chr5:79579732-79579733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62364039	chr5:79579733-79579734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568495130	chr5:79579737-79579738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534270419	chr5:79579743-79579744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146337261	chr5:79579767-79579768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375626782	chr5:79579775-79579776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570860118	chr5:79579855-79579856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12655682	chr5:79579886-79579887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556102612	chr5:79579889-79579890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540531051	chr5:79579973-79579974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545095156	chr5:79580006-79580007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs13189155	chr5:79580054-79580055	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs180894109	chr5:79580058-79580059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554930085	chr5:79580119-79580120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571745796	chr5:79580154-79580155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540721727	chr5:79580155-79580156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532945204	chr5:79580163-79580164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550076441	chr5:79580206-79580207	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	20967226	CNVD
Glioblastoma multiforme	21510904	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79567800-79580400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:79577800-79578800	Enhancers	Fetal Intestine Large	intestine
3	chr5:79578200-79580600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:79579400-79579600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:79579600-79580400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:79580200-79580600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr5:79580200-79581000	Enhancers	Fetal Thymus	thymus
8	chr5:79580200-79581000	Enhancers	Thymus	Thymus
9	chr5:79580400-79580600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:79580400-79581000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:79580400-79581200	Enhancers	Primary T cells from cord blood	blood
12	chr5:79580400-79581200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr5:79580400-79581200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr5:79580400-79581200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:79580400-79581200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr5:79580400-79581400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr5:79580600-79580800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:79580600-79581000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:79580600-79581000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:79580600-79581000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:79580600-79581000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr5:79580600-79581000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:79580600-79581000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:79580600-79581000	Enhancers	Dnd41	blood
25	chr5:79580600-79581400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:79580600-79595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:79580800-79583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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