Variant report

Variant	nsv1018966
Chromosome Location	chr5:75431439-75450547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75441859..75445534-chr5:75469171..75472141,3	K562	blood:
2	chr5:75435891..75438461-chr5:75439201..75442019,2	K562	blood:
3	chr5:75422773..75425695-chr5:75433984..75435838,2	K562	blood:
4	chr5:75435891..75438461-chr5:75439201..75442019,2	K562	blood:

Variant related genes	Relation type
ENSG00000254893	chromatin interactions

Extended variants
information (count: 545 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12657223	chr5:75431439-75431440	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs551018640	chr5:75431448-75431449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199671286	chr5:75431559-75431560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17746851	chr5:75433601-75433602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6863226	chr5:75433638-75433639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546520749	chr5:75433653-75433654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563018286	chr5:75433775-75433776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191953216	chr5:75433831-75433832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76908770	chr5:75433874-75433875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535931263	chr5:75433878-75433879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560987538	chr5:75433926-75433927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12659363	chr5:75433933-75433934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34715685	chr5:75433939-75433940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566504815	chr5:75433940-75433941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185247358	chr5:75433963-75433964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35273704	chr5:75433966-75433967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs67451909	chr5:75433974-75433975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201166344	chr5:75434071-75434072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17565925	chr5:75434086-75434087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150180206	chr5:75434100-75434101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190127023	chr5:75434103-75434104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138953986	chr5:75434120-75434121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71629001	chr5:75434127-75434128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77453163	chr5:75434128-75434129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368815990	chr5:75434158-75434159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77218792	chr5:75438004-75438005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184340638	chr5:75438017-75438018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573936730	chr5:75438018-75438019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2878766	chr5:75438049-75438050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs140736749	chr5:75438085-75438086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189307918	chr5:75438139-75438140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370366968	chr5:75438144-75438145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6881418	chr5:75438156-75438157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369970206	chr5:75438188-75438189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145891703	chr5:75438239-75438240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6859434	chr5:75438240-75438241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs77551625	chr5:75438257-75438258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561248049	chr5:75438270-75438271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530299822	chr5:75438283-75438284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116757004	chr5:75438337-75438338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75068183	chr5:75438352-75438353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182008486	chr5:75438380-75438381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10066177	chr5:75438424-75438425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185018463	chr5:75438438-75438439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13178459	chr5:75438468-75438469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550568174	chr5:75438496-75438497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13174339	chr5:75438538-75438539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs536583947	chr5:75438566-75438567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552970405	chr5:75438567-75438568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188252850	chr5:75438571-75438572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	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
Hepatocellular carcinoma	16750200	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
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75430800-75431600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:75433600-75434200	Enhancers	Placenta	Placenta
3	chr5:75438000-75440400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:75439200-75439400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:75439400-75439600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr5:75439600-75441400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:75439800-75442400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:75440000-75440200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr5:75440000-75440600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:75440000-75441800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:75440200-75442200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:75440400-75440600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:75440400-75442200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:75440400-75442600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:75440600-75440800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:75440600-75441000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:75440800-75442400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:75441000-75441600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:75441000-75441800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr5:75441000-75441800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:75441400-75442200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:75441400-75442400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:75442200-75449800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:75442400-75443200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:75442600-75443200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:75443200-75443400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:75443200-75443400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:75443200-75443400	Enhancers	Pancreas	Pancrea
29	chr5:75443200-75445400	Enhancers	Ovary	ovary
30	chr5:75443400-75444000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:75443400-75444600	Weak transcription	Pancreas	Pancrea
32	chr5:75444600-75445400	Enhancers	Pancreas	Pancrea
33	chr5:75444600-75447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:75445400-75447200	Weak transcription	Pancreas	Pancrea
35	chr5:75447200-75447800	Enhancers	Pancreas	Pancrea
36	chr5:75447200-75448800	Enhancers	HUVEC	blood vessel
37	chr5:75447200-75449000	Enhancers	Gastric	stomach
38	chr5:75449200-75449400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr5:75449800-75450600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr5:75449800-75450600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:75450000-75450400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:75450200-75451000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:75450200-75451200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:75450200-75451400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:75450400-75451200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:75450400-75451400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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