Variant report

Variant	esv3362504
Chromosome Location	chr5:107044478-107047026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFNA5-1	chr5:107046062-107046209	XLOC_004952
2	lnc-EFNA5-1	chr5:107044588-107044663	XLOC_004952
3	lnc-EFNA5-1	chr5:107046062-107046209	XLOC_004952

Variant related genes	Relation type
LRRC59	miRNA target sites

Extended variants
information (count: 197 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567362720	chr5:107044497-107044498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529720091	chr5:107044510-107044511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187324579	chr5:107044516-107044517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73777713	chr5:107044519-107044520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538966013	chr5:107044525-107044526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191644508	chr5:107044533-107044534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138054999	chr5:107044555-107044556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35627284	chr5:107044561-107044562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs201705323	chr5:107044613-107044614	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs12658772	chr5:107044617-107044618	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574097433	chr5:107044656-107044657	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs542686622	chr5:107044667-107044668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552978043	chr5:107044683-107044684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183442491	chr5:107044755-107044756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544203670	chr5:107044786-107044787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545335207	chr5:107044838-107044839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565239600	chr5:107044859-107044860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143480654	chr5:107044890-107044891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150511233	chr5:107044952-107044953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs723798	chr5:107044974-107044975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs62357936	chr5:107044985-107044986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546699503	chr5:107044986-107044987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs723799	chr5:107044991-107044992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532139194	chr5:107045006-107045007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560343027	chr5:107045029-107045030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552158230	chr5:107045052-107045053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527902718	chr5:107045106-107045107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188558849	chr5:107045111-107045112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193117325	chr5:107045113-107045114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185829995	chr5:107045151-107045152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536381965	chr5:107045159-107045160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553041678	chr5:107045191-107045192	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115526505	chr5:107045192-107045193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538656283	chr5:107045199-107045200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139449478	chr5:107045233-107045234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549132398	chr5:107045234-107045235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536087862	chr5:107045238-107045239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371864851	chr5:107045333-107045334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115980848	chr5:107045348-107045349	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575074641	chr5:107045357-107045358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567663192	chr5:107045362-107045363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565923893	chr5:107045394-107045395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540375581	chr5:107045402-107045403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114568478	chr5:107045403-107045404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532207469	chr5:107045404-107045405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189248819	chr5:107045406-107045407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552219768	chr5:107045419-107045420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562320592	chr5:107045420-107045421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538111011	chr5:107045430-107045431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62357937	chr5:107045438-107045439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
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
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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107032400-107049000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:107041600-107045000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:107041600-107049000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:107045000-107045400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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