Variant report

Variant	esv3341390
Chromosome Location	chr5:145118809-145122607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 195 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540423368	chr5:145118838-145118839	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs192897523	chr5:145118844-145118845	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184808488	chr5:145118875-145118876	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377566804	chr5:145118902-145118903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562509054	chr5:145118960-145118961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs531170934	chr5:145118961-145118962	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs551696449	chr5:145118978-145118979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs545658088	chr5:145118983-145118984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs562421218	chr5:145119019-145119020	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527512142	chr5:145119031-145119032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547595469	chr5:145119054-145119055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567430882	chr5:145119055-145119056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs529426683	chr5:145119086-145119087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113585455	chr5:145119091-145119092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs6580383	chr5:145119115-145119116	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6580384	chr5:145119121-145119122	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537840758	chr5:145119172-145119173	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs79105766	chr5:145119208-145119209	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552576739	chr5:145119210-145119211	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs367860882	chr5:145119227-145119228	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs558474629	chr5:145119257-145119258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs116370158	chr5:145119278-145119279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571826182	chr5:145119286-145119287	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189274938	chr5:145119292-145119293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs76670506	chr5:145119296-145119297	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs541752672	chr5:145119312-145119313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs6877099	chr5:145119334-145119335	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6895520	chr5:145119335-145119336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369846569	chr5:145119338-145119339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs576320571	chr5:145119344-145119345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575304269	chr5:145119350-145119351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181779533	chr5:145119357-145119358	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs565220848	chr5:145119368-145119369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs11167909	chr5:145119369-145119370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs145687152	chr5:145119372-145119373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs6896903	chr5:145119423-145119424	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs3903516	chr5:145119429-145119430	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs71594516	chr5:145119511-145119512	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs199919332	chr5:145119529-145119530	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs398084536	chr5:145119534-145119535	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200449330	chr5:145119536-145119537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs183703849	chr5:145119567-145119568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529873488	chr5:145119568-145119569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs78825892	chr5:145119575-145119576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs142742360	chr5:145119616-145119617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs35627244	chr5:145119657-145119658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12657351	chr5:145119683-145119684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548553778	chr5:145119709-145119710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs568746752	chr5:145119764-145119765	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs530979966	chr5:145119779-145119780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145105400-145179000	Weak transcription	Pancreas	Pancrea
2	chr5:145107200-145123200	Weak transcription	Aorta	Aorta
3	chr5:145109400-145120600	Weak transcription	Left Ventricle	heart
4	chr5:145109400-145194400	Weak transcription	Colonic Mucosa	Colon
5	chr5:145110400-145143800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:145111200-145123000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:145111400-145166800	Weak transcription	K562	blood
8	chr5:145113600-145140000	Weak transcription	Ovary	ovary
9	chr5:145114000-145163400	Weak transcription	Small Intestine	intestine
10	chr5:145114600-145142400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:145114800-145139200	Weak transcription	Fetal Intestine Large	intestine
12	chr5:145115800-145143800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:145116400-145123200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:145117800-145119200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:145118000-145119200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:145118800-145119000	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr5:145119000-145123600	Weak transcription	Fetal Intestine Small	intestine
18	chr5:145119200-145120000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:145120000-145123000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:145122000-145131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:145122400-145126600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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