Variant report

Variant	esv17811
Chromosome Location	chr5:108537620-108555452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FER-4	chr5:108552402-108552422	NONHSAT103134
2	lnc-FER-4	chr5:108553736-108553902	NONHSAT103134
3	lnc-FER-4	chr5:108548949-108549008	NONHSAT103134

Extended variants
information (count: 567 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:567 , 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	rs13159083	chr5:108537640-108537641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528296515	chr5:108537669-108537670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192240842	chr5:108537677-108537678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370623473	chr5:108537705-108537706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62376775	chr5:108537734-108537735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567229311	chr5:108537752-108537753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535818030	chr5:108537767-108537768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552121874	chr5:108537771-108537772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77665334	chr5:108537777-108537778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566203018	chr5:108537780-108537781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535236256	chr5:108537785-108537786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143180790	chr5:108537803-108537804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536944888	chr5:108537927-108537928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146659846	chr5:108537945-108537946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75706366	chr5:108537998-108537999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375563857	chr5:108538030-108538031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573976181	chr5:108538050-108538051	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs542597720	chr5:108538068-108538069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs558462143	chr5:108538082-108538083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs13163504	chr5:108538086-108538087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs76267145	chr5:108538088-108538089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573024764	chr5:108538089-108538090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs13181475	chr5:108538110-108538111	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111727011	chr5:108538125-108538126	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369373090	chr5:108538126-108538127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs59360492	chr5:108538145-108538146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200164124	chr5:108538146-108538147	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs140629043	chr5:108538156-108538157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs183867333	chr5:108538160-108538161	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs13163803	chr5:108538204-108538205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550256007	chr5:108538210-108538211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189322902	chr5:108538212-108538213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531864798	chr5:108538214-108538215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372006977	chr5:108538219-108538220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115459662	chr5:108538226-108538227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546233922	chr5:108538227-108538228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566387579	chr5:108538260-108538261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13181682	chr5:108538296-108538297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150481604	chr5:108538315-108538316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369347309	chr5:108538316-108538317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531845827	chr5:108538320-108538321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181943289	chr5:108538377-108538378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114669826	chr5:108538378-108538379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200548812	chr5:108538393-108538394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200090445	chr5:108538402-108538403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55681120	chr5:108538403-108538404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202222804	chr5:108538404-108538405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574436190	chr5:108538449-108538450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541566997	chr5:108538541-108538542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373223200	chr5:108538630-108538631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108503600-108540400	Weak transcription	Psoas Muscle	Psoas
2	chr5:108522600-108538000	Weak transcription	Aorta	Aorta
3	chr5:108527800-108542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:108532200-108540600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:108535400-108539400	Weak transcription	Left Ventricle	heart
6	chr5:108535600-108538000	Weak transcription	Esophagus	oesophagus
7	chr5:108538000-108538200	ZNF genes & repeats	Aorta	Aorta
8	chr5:108538000-108538200	ZNF genes & repeats	Esophagus	oesophagus
9	chr5:108538400-108538600	Weak transcription	Aorta	Aorta
10	chr5:108540400-108540600	ZNF genes & repeats	Psoas Muscle	Psoas
11	chr5:108540600-108540800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:108549800-108550000	ZNF genes & repeats	Aorta	Aorta
13	chr5:108550000-108550400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:108550400-108551000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:108550600-108551200	Enhancers	Liver	Liver
16	chr5:108550600-108551400	Enhancers	HepG2	liver
17	chr5:108551000-108551400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:108551400-108554000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:108554000-108554400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:108554400-108555000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:108554400-108555400	Enhancers	Fetal Heart	heart
22	chr5:108554600-108555400	Enhancers	Fetal Muscle Leg	muscle
23	chr5:108554800-108555200	Enhancers	Ovary	ovary
24	chr5:108555000-108555400	Enhancers	Pancreas	Pancrea
25	chr5:108555000-108555800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:108555200-108559600	Weak transcription	Ovary	ovary
27	chr5:108555400-108559400	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:108555400-108559400	Weak transcription	Pancreas	Pancrea

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