Variant report

Variant	esv2534212
Chromosome Location	chr5:93916020-93917734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93917068..93919147-chr5:93934324..93935876,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143519585	chr5:93916021-93916022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150546232	chr5:93916063-93916064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550782090	chr5:93916066-93916067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1376714	chr5:93916089-93916090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72771702	chr5:93916096-93916097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546274712	chr5:93916124-93916125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566478612	chr5:93916215-93916216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73132682	chr5:93916250-93916251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549113223	chr5:93916300-93916301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568638453	chr5:93916301-93916302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537225292	chr5:93916352-93916353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557564378	chr5:93916481-93916482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13182373	chr5:93916582-93916583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377622912	chr5:93916617-93916618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370879539	chr5:93916618-93916619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200885940	chr5:93916619-93916620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201794437	chr5:93916620-93916621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202025964	chr5:93916654-93916655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540132342	chr5:93916655-93916656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577840071	chr5:93916667-93916668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570213484	chr5:93916694-93916695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180842081	chr5:93916718-93916719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535786607	chr5:93916741-93916742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572918258	chr5:93916745-93916746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543577053	chr5:93916747-93916748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377438101	chr5:93916757-93916758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555419878	chr5:93916767-93916768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575729667	chr5:93916842-93916843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73132683	chr5:93916881-93916882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564352735	chr5:93916913-93916914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374645875	chr5:93916921-93916922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533032002	chr5:93916936-93916937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73132684	chr5:93916939-93916940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377271119	chr5:93916948-93916949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12518034	chr5:93916953-93916954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs549025463	chr5:93916954-93916955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185146140	chr5:93916955-93916956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563527527	chr5:93916956-93916957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531483197	chr5:93916978-93916979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550850781	chr5:93917187-93917188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563090212	chr5:93917205-93917206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557722878	chr5:93917300-93917301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571036404	chr5:93917324-93917325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374427066	chr5:93917347-93917348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539713121	chr5:93917379-93917380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572470075	chr5:93917393-93917394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139441070	chr5:93917404-93917405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535443455	chr5:93917593-93917594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs578073173	chr5:93917601-93917602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149667208	chr5:93917644-93917645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93903000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:93908400-93916600	Weak transcription	Ovary	ovary
3	chr5:93909800-93918800	Weak transcription	Pancreas	Pancrea
4	chr5:93911800-93916800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:93911800-93916800	Weak transcription	NHEK	skin
6	chr5:93914200-93918800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:93914600-93916600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:93914600-93917800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:93914600-93920200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:93915200-93916200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:93915400-93917800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:93915800-93917000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:93916200-93916400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:93916400-93916800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:93916600-93917000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr5:93916800-93917000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:93916800-93917400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:93916800-93918000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:93916800-93918000	Enhancers	NHEK	skin
20	chr5:93917000-93917200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr5:93917000-93917600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:93917000-93918400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:93917200-93918200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:93917400-93918000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:93917400-93918000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:93917600-93918200	Enhancers	HMEC	breast

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