Variant report

Variant	nsv526165
Chromosome Location	chr5:117730127-117763178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
2	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
3	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
4	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:

Extended variants
information (count: 559 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531758867	chr5:117734813-117734814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551470169	chr5:117734824-117734825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548836641	chr5:117734832-117734833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142081964	chr5:117734841-117734842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534050470	chr5:117734843-117734844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547442428	chr5:117734845-117734846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567532693	chr5:117734853-117734854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12520153	chr5:117734859-117734860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184653679	chr5:117734861-117734862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535592543	chr5:117734971-117734972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs60133997	chr5:117734973-117734974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576643724	chr5:117735013-117735014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190383867	chr5:117735056-117735057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146332629	chr5:117735080-117735081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556360133	chr5:117735083-117735084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571958087	chr5:117735089-117735090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182419393	chr5:117735122-117735123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559099297	chr5:117735125-117735126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560954980	chr5:117735137-117735138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61662516	chr5:117735185-117735186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139574662	chr5:117735218-117735219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563635040	chr5:117735232-117735233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532321119	chr5:117735250-117735251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546050958	chr5:117735261-117735262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557399483	chr5:117735269-117735270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565139329	chr5:117735294-117735295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527641422	chr5:117735299-117735300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141845776	chr5:117735320-117735321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547529197	chr5:117735365-117735366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567420822	chr5:117735394-117735395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569006706	chr5:117735601-117735602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537975855	chr5:117735604-117735605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140007498	chr5:117735605-117735606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557714435	chr5:117735616-117735617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559591181	chr5:117735660-117735661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527728463	chr5:117735694-117735695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552874278	chr5:117735701-117735702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541007800	chr5:117735709-117735710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560910672	chr5:117735719-117735720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72791697	chr5:117735729-117735730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs80144360	chr5:117735755-117735756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570161223	chr5:117735757-117735758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140070632	chr5:117735767-117735768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35967204	chr5:117735785-117735786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78697906	chr5:117735832-117735833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543628630	chr5:117735834-117735835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554620630	chr5:117735879-117735880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568034530	chr5:117735885-117735886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373912090	chr5:117735901-117735902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556977880	chr5:117735942-117735943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117734800-117735400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:117735600-117735800	Enhancers	Right Atrium	heart
3	chr5:117735800-117743800	Weak transcription	Right Atrium	heart
4	chr5:117740800-117742000	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:117741000-117742000	Enhancers	Fetal Muscle Leg	muscle
6	chr5:117741200-117741600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:117741200-117741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:117741200-117741800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:117741400-117741600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:117741400-117741600	Enhancers	Right Ventricle	heart
11	chr5:117741400-117741800	Enhancers	Fetal Stomach	stomach
12	chr5:117741400-117742000	Enhancers	Left Ventricle	heart
13	chr5:117741600-117744800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:117743400-117744000	Enhancers	Right Ventricle	heart
15	chr5:117743800-117744200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:117743800-117744600	Enhancers	Right Atrium	heart
17	chr5:117744000-117744600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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