Variant report

Variant	esv3451588
Chromosome Location	chr8:84987446-85009943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALYL-1	chr8:84996384-84996478	ENSG00000254202

Extended variants
information (count: 442 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567106384	chr8:84987469-84987470	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13270104	chr8:84987503-84987504	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184409430	chr8:84987505-84987506	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566129537	chr8:84987506-84987507	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534814923	chr8:84987507-84987508	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372957743	chr8:84987518-84987519	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16922863	chr8:84987529-84987530	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs376032721	chr8:84987617-84987618	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7842846	chr8:84987650-84987651	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs16922866	chr8:84987660-84987661	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574266104	chr8:84987670-84987671	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114296927	chr8:84987725-84987726	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560003912	chr8:84987740-84987741	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189288374	chr8:84987775-84987776	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544781954	chr8:84987787-84987788	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192762047	chr8:84987790-84987791	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77134695	chr8:84987810-84987811	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545198087	chr8:84987821-84987822	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567193445	chr8:84987838-84987839	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529950557	chr8:84987860-84987861	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112696118	chr8:84987874-84987875	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74356980	chr8:84987886-84987887	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7842797	chr8:84987902-84987903	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566550264	chr8:84987917-84987918	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535117117	chr8:84987936-84987937	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200036243	chr8:84987957-84987958	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558011905	chr8:84987971-84987972	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73688201	chr8:84988068-84988069	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537472490	chr8:84988069-84988070	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557414044	chr8:84988075-84988076	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574354206	chr8:84988076-84988077	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543353641	chr8:84988092-84988093	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550731382	chr8:84988094-84988095	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547496440	chr8:84988096-84988097	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573398010	chr8:84988098-84988099	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377425192	chr8:84988128-84988129	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545070551	chr8:84988147-84988148	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570437588	chr8:84988238-84988239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184582017	chr8:84988240-84988241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543769168	chr8:84988299-84988300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35218036	chr8:84988305-84988306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529889257	chr8:84988315-84988316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34067813	chr8:84988322-84988323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560287836	chr8:84988347-84988348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532242750	chr8:84988357-84988358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551833916	chr8:84988387-84988388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571625334	chr8:84988426-84988427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1437507	chr8:84988449-84988450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550953935	chr8:84988511-84988512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189368226	chr8:84988597-84988598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:84987400-84988200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:84988200-84994400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:85005000-85005800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:85005200-85005600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:85005200-85005600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:85005200-85007200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:85005600-85006600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:85006600-85007200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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