Variant report

Variant	esv3405239
Chromosome Location	chr5:94288771-94290944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544218449	chr5:94288772-94288773	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192319394	chr5:94288787-94288788	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6892227	chr5:94288790-94288791	Active TSS Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139645021	chr5:94288855-94288856	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563230912	chr5:94288866-94288867	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368183379	chr5:94288876-94288877	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370829417	chr5:94288885-94288886	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200538982	chr5:94288914-94288915	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374701590	chr5:94288931-94288932	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368168385	chr5:94288934-94288935	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200770764	chr5:94288941-94288942	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371246790	chr5:94288961-94288962	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374805628	chr5:94289033-94289034	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528783201	chr5:94289034-94289035	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200080797	chr5:94289048-94289049	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551616740	chr5:94289068-94289069	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184527638	chr5:94289088-94289089	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202109090	chr5:94289089-94289090	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs293045	chr5:94289131-94289132	Active TSS Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113470511	chr5:94289212-94289213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188371	chr5:94289215-94289216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539515706	chr5:94289253-94289254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546795737	chr5:94289327-94289328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188889379	chr5:94289388-94289389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537019880	chr5:94289405-94289406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191823886	chr5:94289416-94289417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376477316	chr5:94289418-94289419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs816871	chr5:94289446-94289447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147076142	chr5:94289456-94289457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184623497	chr5:94289523-94289524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527767764	chr5:94289535-94289536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540170716	chr5:94289538-94289539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202166515	chr5:94289543-94289544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10615926	chr5:94289545-94289546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376413104	chr5:94289546-94289547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199595082	chr5:94289547-94289548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537874190	chr5:94289548-94289549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369144405	chr5:94289550-94289551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373374391	chr5:94289552-94289553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10615927	chr5:94289553-94289554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574119317	chr5:94289563-94289564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370303055	chr5:94289576-94289577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113698138	chr5:94289580-94289581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537462628	chr5:94289599-94289600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375924579	chr5:94289602-94289603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs70978146	chr5:94289606-94289607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557750832	chr5:94289627-94289628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201041742	chr5:94289635-94289636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200696553	chr5:94289645-94289646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202216718	chr5:94289647-94289648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94272800-94290800	Weak transcription	Lung	lung
2	chr5:94274200-94289800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:94275400-94290600	Weak transcription	Dnd41	blood
4	chr5:94278000-94290600	Weak transcription	GM12878-XiMat	blood
5	chr5:94282000-94289000	Weak transcription	Adipose Nuclei	Adipose
6	chr5:94285800-94289600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:94286000-94289000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:94286200-94289200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:94287200-94289000	Strong transcription	HUVEC	blood vessel
10	chr5:94287400-94289000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:94288000-94289000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:94288200-94294600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:94288400-94289200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:94288400-94291400	Weak transcription	Primary T cells from cord blood	blood
15	chr5:94288600-94289000	Strong transcription	Primary hematopoietic stem cells	blood
16	chr5:94288600-94296600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:94289000-94290200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:94289000-94290800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr5:94289000-94290800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:94289000-94291000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:94289000-94304800	Weak transcription	HUVEC	blood vessel
22	chr5:94289200-94300800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr5:94290200-94292200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:94290800-94291400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:94290800-94291400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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