Variant report

Variant	esv3350764
Chromosome Location	chr5:58911545-58913943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:58909037..58911630-chr5:58912245..58914996,2	K562	blood:
2	chr5:58909037..58911630-chr5:58912245..58914996,2	K562	blood:
3	chr5:58883648..58886059-chr5:58910060..58912120,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562896018	chr5:58911590-58911591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574867324	chr5:58911629-58911630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555851562	chr5:58911636-58911637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75823342	chr5:58911664-58911665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538308605	chr5:58911728-58911729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558724838	chr5:58911739-58911740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187725277	chr5:58911747-58911748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2053229	chr5:58911777-58911778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542347424	chr5:58911795-58911796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111736083	chr5:58911808-58911809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs159405	chr5:58911860-58911861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144754050	chr5:58911878-58911879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs431381	chr5:58911888-58911889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532650455	chr5:58911944-58911945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552432874	chr5:58912073-58912074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527891529	chr5:58912098-58912099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552457833	chr5:58912161-58912162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572285625	chr5:58912204-58912205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559418877	chr5:58912236-58912237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192689371	chr5:58912296-58912297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199619554	chr5:58912361-58912362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184259291	chr5:58912362-58912363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs298014	chr5:58912392-58912393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190112745	chr5:58912417-58912418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374860929	chr5:58912505-58912506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111987657	chr5:58912543-58912544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369538873	chr5:58912576-58912577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58786646	chr5:58912632-58912633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs193167765	chr5:58912651-58912652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72769745	chr5:58912663-58912664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs298015	chr5:58912685-58912686	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs10058879	chr5:58912719-58912720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369655893	chr5:58912744-58912745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199733459	chr5:58912745-58912746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547471208	chr5:58912771-58912772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs55821264	chr5:58912772-58912773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7704638	chr5:58912778-58912779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574790695	chr5:58912779-58912780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543314896	chr5:58912818-58912819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545729117	chr5:58912830-58912831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189849800	chr5:58912845-58912846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557215133	chr5:58912846-58912847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140418883	chr5:58912872-58912873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180707439	chr5:58912970-58912971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115837116	chr5:58912986-58912987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369848282	chr5:58912995-58912996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559455688	chr5:58913011-58913012	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs10074441	chr5:58913037-58913038	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs542041020	chr5:58913038-58913039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs298016	chr5:58913049-58913050	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58897600-58915800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58903800-58913400	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:58905200-58913200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:58905600-58915800	Weak transcription	HSMMtube	muscle
5	chr5:58906800-58912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:58908400-58915600	Weak transcription	Primary B cells from cord blood	blood
7	chr5:58909400-58913000	Weak transcription	Psoas Muscle	Psoas
8	chr5:58909800-58912600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:58910000-58911600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:58910000-58913000	Weak transcription	Fetal Intestine Small	intestine
11	chr5:58910400-58911800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:58910400-58912400	Enhancers	HSMM	muscle
13	chr5:58910400-58913600	Enhancers	A549	lung
14	chr5:58910600-58911600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:58910800-58911600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:58910800-58911600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:58910800-58911800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:58910800-58911800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:58911200-58911600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:58911200-58911800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:58911200-58911800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:58911200-58911800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:58911200-58911800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:58911200-58911800	Enhancers	Hela-S3	cervix
25	chr5:58911200-58912200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:58911200-58912400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:58911200-58912600	Enhancers	Osteobl	bone
28	chr5:58911400-58911600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:58911400-58911800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:58911400-58911800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr5:58911400-58911800	Enhancers	Stomach Mucosa	stomach
32	chr5:58911400-58929600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:58911600-58913200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:58911600-58915200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:58911800-58913000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:58911800-58913000	Weak transcription	Stomach Mucosa	stomach
37	chr5:58911800-58915200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:58911800-58915200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:58911800-58915200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:58911800-58915400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:58911800-58915800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:58911800-58916600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:58911800-58918400	Weak transcription	Hela-S3	cervix
44	chr5:58912200-58915400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:58912400-58915200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:58912400-58915800	Weak transcription	HSMM	muscle
47	chr5:58912600-58916000	Weak transcription	Osteobl	bone
48	chr5:58912800-58913400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr5:58913000-58913200	Enhancers	Stomach Mucosa	stomach
50	chr5:58913000-58913600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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