Variant report

Variant	esv3423505
Chromosome Location	chr5:108304153-108307151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11948270	chr5:108304246-108304247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs55704125	chr5:108304257-108304258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546303826	chr5:108304292-108304293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562795793	chr5:108304337-108304338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531741411	chr5:108304338-108304339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548334737	chr5:108304339-108304340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186343370	chr5:108304343-108304344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191858114	chr5:108304465-108304466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149977013	chr5:108304477-108304478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182951022	chr5:108304486-108304487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77750668	chr5:108304488-108304489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11954716	chr5:108304492-108304493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549854787	chr5:108304505-108304506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569688014	chr5:108304527-108304528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73211542	chr5:108304533-108304534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370783379	chr5:108304574-108304575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6884648	chr5:108304606-108304607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185882727	chr5:108304634-108304635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534514355	chr5:108304650-108304651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554479647	chr5:108304678-108304679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577374788	chr5:108304748-108304749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546039920	chr5:108304756-108304757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545558434	chr5:108304817-108304818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72789319	chr5:108304890-108304891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs61304250	chr5:108304905-108304906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369338425	chr5:108304915-108304916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540490915	chr5:108305064-108305065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542288145	chr5:108305067-108305068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561761485	chr5:108305072-108305073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561848507	chr5:108305115-108305116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191577805	chr5:108305165-108305166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547292983	chr5:108305224-108305225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182666332	chr5:108305253-108305254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533243725	chr5:108305327-108305328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540876492	chr5:108305332-108305333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186990001	chr5:108305437-108305438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529055526	chr5:108305460-108305461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145672285	chr5:108305461-108305462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192189003	chr5:108305495-108305496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549068200	chr5:108305498-108305499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182912864	chr5:108305555-108305556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34500328	chr5:108305556-108305557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534554536	chr5:108305637-108305638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79525246	chr5:108305663-108305664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72789320	chr5:108305691-108305692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540124260	chr5:108305771-108305772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532863170	chr5:108305772-108305773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67053762	chr5:108305777-108305778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs77112684	chr5:108305819-108305820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572021317	chr5:108305841-108305842	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
3	chr5:108254000-108311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:108277600-108322400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:108278000-108308200	Weak transcription	Fetal Kidney	kidney
6	chr5:108279200-108325600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:108281000-108313400	Weak transcription	Adipose Nuclei	Adipose
8	chr5:108282200-108324600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:108282400-108327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:108283400-108319000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:108287800-108310000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:108289200-108309200	Weak transcription	Hela-S3	cervix
13	chr5:108289200-108318600	Weak transcription	NHDF-Ad	bronchial
14	chr5:108290000-108313600	Weak transcription	Aorta	Aorta
15	chr5:108290000-108322000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:108290000-108328800	Weak transcription	Esophagus	oesophagus
17	chr5:108293400-108325600	Weak transcription	NHEK	skin
18	chr5:108294400-108329400	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:108295200-108319400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:108295800-108316600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:108296600-108307800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:108296600-108311800	Weak transcription	HSMMtube	muscle
23	chr5:108297000-108313400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:108298000-108316400	Weak transcription	Brain Substantia Nigra	brain
25	chr5:108298200-108315800	Weak transcription	HepG2	liver
26	chr5:108299600-108328800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:108300400-108314200	Weak transcription	NH-A	brain
28	chr5:108301400-108328600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:108301600-108361200	Weak transcription	Primary T cells from cord blood	blood
30	chr5:108301800-108318600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:108302200-108330200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:108303000-108310000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:108303000-108313600	Weak transcription	Lung	lung
34	chr5:108303000-108318800	Weak transcription	Brain Angular Gyrus	brain
35	chr5:108303000-108319400	Weak transcription	HSMM	muscle
36	chr5:108303000-108329000	Weak transcription	Gastric	stomach
37	chr5:108303200-108304800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:108303200-108305200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:108303200-108309200	Weak transcription	Liver	Liver
40	chr5:108303200-108311000	Weak transcription	Dnd41	blood
41	chr5:108303200-108315400	Weak transcription	Fetal Stomach	stomach
42	chr5:108303200-108318800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:108303200-108321200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:108303200-108322200	Weak transcription	Pancreas	Pancrea
45	chr5:108303200-108322400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:108303200-108331800	Weak transcription	Ovary	ovary
47	chr5:108303400-108312400	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:108303600-108304800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:108303600-108315600	Weak transcription	HMEC	breast
50	chr5:108303800-108321000	Weak transcription	Fetal Lung	lung

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