Variant report

Variant	esv3496084
Chromosome Location	chr8:104014081-104014609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AZIN1-2	chr8:104014108-104014651	NONHSAT128138
2	lnc-KB-1507C5.2.1-2	chr8:104011293-104014653	NONHSAT128145

Extended variants
information (count: 32 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561286935	chr8:104014104-104014105	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs200703982	chr8:104014106-104014107	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs79172352	chr8:104014107-104014108	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs545340685	chr8:104014112-104014113	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs113216010	chr8:104014116-104014117	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs190554054	chr8:104014145-104014146	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs573086754	chr8:104014173-104014174	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs540454494	chr8:104014176-104014177	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs565145752	chr8:104014180-104014181	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs532656475	chr8:104014188-104014189	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs181779128	chr8:104014195-104014196	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs553352349	chr8:104014252-104014253	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs368111297	chr8:104014255-104014256	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs186899460	chr8:104014271-104014272	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs567591614	chr8:104014277-104014278	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs113307807	chr8:104014313-104014314	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
17	rs546829912	chr8:104014339-104014340	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs191322378	chr8:104014356-104014357	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs577704	chr8:104014359-104014360	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11988081	chr8:104014370-104014371	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575167191	chr8:104014380-104014381	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs535878808	chr8:104014388-104014389	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs561822599	chr8:104014418-104014419	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs151251374	chr8:104014426-104014427	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs554821586	chr8:104014437-104014438	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs140494148	chr8:104014438-104014439	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs150022556	chr8:104014446-104014447	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs565148481	chr8:104014487-104014488	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs579324	chr8:104014522-104014523	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2935582	chr8:104014549-104014550	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs72667301	chr8:104014573-104014574	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs2945830	chr8:104014574-104014575	ZNF genes & repeats Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:110)

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
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
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
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
Multiple myeloma	16461302	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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104007200-104014400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr8:104007600-104014200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:104011800-104014200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:104012800-104014200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:104012800-104014600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:104013000-104014200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:104013000-104014400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:104013400-104017400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:104013600-104015000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr8:104014000-104014200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:104014000-104014200	Flanking Active TSS	HepG2	liver
12	chr8:104014000-104015200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr8:104014200-104014400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:104014200-104014400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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