Variant report

Variant	esv2542415
Chromosome Location	chr5:53377433-53379045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53373898..53375461-chr5:53377172..53379586,2	K562	blood:
2	chr5:53378633..53381453-chr5:53383372..53384998,2	K562	blood:
3	chr5:53375920..53378093-chr5:53380907..53382574,2	K562	blood:
4	chr5:53378633..53380419-chr5:53382745..53384998,2	K562	blood:
5	chr5:53367293..53369757-chr5:53377788..53380665,2	K562	blood:
6	chr5:53370747..53372250-chr5:53378791..53381202,2	K562	blood:
7	chr5:53378866..53381828-chr5:53385166..53386974,2	K562	blood:

Variant related genes	Relation type
ENSG00000265421	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181838482	chr5:53377448-53377449	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs141641944	chr5:53377456-53377457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs532552527	chr5:53377467-53377468	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs569191484	chr5:53377491-53377492	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572487483	chr5:53377518-53377519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs10213735	chr5:53377527-53377528	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375547271	chr5:53377570-53377571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554535504	chr5:53377577-53377578	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs186377636	chr5:53377582-53377583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs576461399	chr5:53377610-53377611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544139508	chr5:53377631-53377632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368798388	chr5:53377641-53377642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565546326	chr5:53377670-53377671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368540078	chr5:53377674-53377675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532772964	chr5:53377679-53377680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59547873	chr5:53377691-53377692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560022636	chr5:53377692-53377693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527368939	chr5:53377703-53377704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548749023	chr5:53377777-53377778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566925278	chr5:53377790-53377791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10667729	chr5:53377798-53377799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34793432	chr5:53377799-53377800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398072503	chr5:53377800-53377801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537407815	chr5:53377813-53377814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549679648	chr5:53377829-53377830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571186154	chr5:53377899-53377900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369547034	chr5:53377902-53377903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75518992	chr5:53377903-53377904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386403787	chr5:53377911-53377912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538492525	chr5:53377918-53377919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10058801	chr5:53377921-53377922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201962667	chr5:53377936-53377937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143494582	chr5:53377937-53377938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1613610	chr5:53377948-53377949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59676053	chr5:53377949-53377950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553924778	chr5:53377957-53377958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10074261	chr5:53378043-53378044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4865802	chr5:53378050-53378051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191184532	chr5:53378082-53378083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182264983	chr5:53378159-53378160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554728544	chr5:53378220-53378221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568112857	chr5:53378240-53378241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544863260	chr5:53378274-53378275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186276758	chr5:53378313-53378314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs156381	chr5:53378364-53378365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs541301354	chr5:53378415-53378416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544802975	chr5:53378417-53378418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs156380	chr5:53378450-53378451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376249875	chr5:53378462-53378463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530186523	chr5:53378537-53378538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53316200-53387400	Weak transcription	Left Ventricle	heart
2	chr5:53357000-53408000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:53359400-53379800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:53359400-53380200	Weak transcription	Primary T cells from cord blood	blood
5	chr5:53360200-53382800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:53365200-53391200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:53366600-53378400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:53367000-53379800	Weak transcription	Fetal Intestine Large	intestine
9	chr5:53367000-53384200	Weak transcription	Fetal Intestine Small	intestine
10	chr5:53368600-53388800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:53369800-53379800	Weak transcription	Esophagus	oesophagus
12	chr5:53370000-53379800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:53370200-53378400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:53370200-53383400	Weak transcription	HMEC	breast
15	chr5:53375800-53380000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:53376000-53379800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:53376800-53378800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:53377200-53377600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr5:53377400-53412200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:53377600-53390800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:53377800-53408600	Weak transcription	Primary B cells from cord blood	blood
22	chr5:53378400-53379000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:53378400-53379000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:53378400-53381600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:53378600-53379600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:53378600-53380200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:53378800-53380200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:53379000-53379400	Enhancers	Brain Hippocampus Middle	brain
29	chr5:53379000-53379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:53379000-53379800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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