Variant report

Variant	nsv1034487
Chromosome Location	chr5:118047803-118085925
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	chr5:118078899..118081721-chr5:118082117..118084091,2	K562	blood:
2	chr5:118078899..118081721-chr5:118082117..118084091,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-6	chr5:118061438-118061520	l_3003_chr5:118060532-118101249_testes
2	lnc-DTWD2-6	chr5:118060533-118060627	l_3003_chr5:118060532-118101249_testes

Extended variants
information (count: 337 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151017481	chr5:118057802-118057803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376836566	chr5:118057809-118057810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57208269	chr5:118057813-118057814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182370076	chr5:118057868-118057869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553937953	chr5:118057890-118057891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574110760	chr5:118057956-118057957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141726679	chr5:118057994-118057995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs735620	chr5:118058065-118058066	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369662885	chr5:118058105-118058106	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs6894241	chr5:118058126-118058127	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187360800	chr5:118058132-118058133	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs565260097	chr5:118058187-118058188	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs190163461	chr5:118058196-118058197	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs181484056	chr5:118058206-118058207	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567629558	chr5:118058221-118058222	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs147093580	chr5:118058293-118058294	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538646957	chr5:118058319-118058320	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141351492	chr5:118058323-118058324	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs76324203	chr5:118058344-118058345	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs549502122	chr5:118058471-118058472	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs114546564	chr5:118058517-118058518	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376925695	chr5:118058526-118058527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs186118202	chr5:118058527-118058528	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs553754345	chr5:118058570-118058571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs138517640	chr5:118058580-118058581	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144102836	chr5:118058581-118058582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs730907	chr5:118058631-118058632	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs548389935	chr5:118058638-118058639	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs143212037	chr5:118058653-118058654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs150084255	chr5:118058663-118058664	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75795300	chr5:118058682-118058683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs536403163	chr5:118058692-118058693	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs730906	chr5:118058726-118058727	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs78560031	chr5:118058734-118058735	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs577415209	chr5:118058760-118058761	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs558808818	chr5:118058770-118058771	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs117511833	chr5:118058783-118058784	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs730909	chr5:118058845-118058846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs730908	chr5:118058851-118058852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574941634	chr5:118058868-118058869	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148297437	chr5:118058935-118058936	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs13185039	chr5:118058967-118058968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs202018104	chr5:118058974-118058975	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs34284137	chr5:118058975-118058976	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs397884094	chr5:118058980-118058981	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs141438476	chr5:118058981-118058982	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372796044	chr5:118059066-118059067	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs559662395	chr5:118059076-118059077	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs190052684	chr5:118059085-118059086	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs17144458	chr5:118059108-118059109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118057800-118058000	Enhancers	GM12878-XiMat	blood
2	chr5:118058000-118058400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:118058000-118059200	Flanking Active TSS	GM12878-XiMat	blood
4	chr5:118058200-118059200	Enhancers	Fetal Lung	lung
5	chr5:118058400-118062400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:118058600-118059400	Enhancers	HSMMtube	muscle
7	chr5:118059200-118059600	Enhancers	GM12878-XiMat	blood
8	chr5:118059200-118062800	Weak transcription	Fetal Lung	lung
9	chr5:118062400-118063000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:118062800-118063000	Enhancers	Fetal Lung	lung
11	chr5:118064000-118064600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:118064000-118064600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:118064000-118064600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:118064200-118064600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:118070400-118070800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:118083400-118085400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:118084600-118085800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:118084800-118085400	Enhancers	Fetal Lung	lung
19	chr5:118084800-118085600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:118084800-118085600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:118084800-118085600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:118085400-118088200	Weak transcription	Fetal Lung	lung

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