Variant report

Variant	esv2541376
Chromosome Location	chr5:124363227-124364813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80278820	chr5:124363242-124363243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575808230	chr5:124363313-124363314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546423868	chr5:124363329-124363330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191747741	chr5:124363330-124363331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573601383	chr5:124363370-124363371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370950333	chr5:124363377-124363378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572621897	chr5:124363381-124363382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539976232	chr5:124363423-124363424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539068140	chr5:124363436-124363437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564618466	chr5:124363466-124363467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542471609	chr5:124363518-124363519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543818373	chr5:124363603-124363604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562803442	chr5:124363626-124363627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529916952	chr5:124363659-124363660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548379750	chr5:124363673-124363674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560423314	chr5:124363746-124363747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373286809	chr5:124363761-124363762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183661082	chr5:124363796-124363797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547161082	chr5:124363850-124363851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571761388	chr5:124363851-124363852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138537552	chr5:124363858-124363859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564345522	chr5:124363859-124363860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550653754	chr5:124363869-124363870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188781122	chr5:124363875-124363876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559211725	chr5:124363911-124363912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56201628	chr5:124363947-124363948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192380892	chr5:124363968-124363969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370491672	chr5:124363993-124363994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55825334	chr5:124363994-124363995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56398207	chr5:124363997-124363998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573131350	chr5:124363999-124364000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374941739	chr5:124364085-124364086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534125356	chr5:124364126-124364127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558238223	chr5:124364170-124364171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370694598	chr5:124364175-124364176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375371510	chr5:124364178-124364179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560808791	chr5:124364298-124364299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10059682	chr5:124364315-124364316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs367598497	chr5:124364321-124364322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182351257	chr5:124364348-124364349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543273888	chr5:124364374-124364375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113794128	chr5:124364389-124364390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10051816	chr5:124364450-124364451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530527199	chr5:124364468-124364469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574358699	chr5:124364503-124364504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10051865	chr5:124364505-124364506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560464562	chr5:124364518-124364519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13176649	chr5:124364527-124364528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34818983	chr5:124364553-124364554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4836135	chr5:124364567-124364568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124361000-124363400	Enhancers	Fetal Intestine Small	intestine
2	chr5:124361000-124363600	Enhancers	Fetal Intestine Large	intestine
3	chr5:124362000-124363400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:124362400-124363400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:124362400-124363400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:124362400-124363400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:124362400-124363400	Enhancers	Pancreas	Pancrea
8	chr5:124362400-124363600	Enhancers	Adipose Nuclei	Adipose
9	chr5:124362400-124363600	Enhancers	Liver	Liver
10	chr5:124362400-124363600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr5:124362400-124363600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:124362400-124363800	Enhancers	Fetal Heart	heart
13	chr5:124362600-124363400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:124362600-124363400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:124362600-124363400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:124362600-124363400	Enhancers	Fetal Kidney	kidney
17	chr5:124362600-124363400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr5:124362600-124363400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr5:124362600-124363400	Enhancers	Dnd41	blood
20	chr5:124362600-124363600	Enhancers	Stomach Mucosa	stomach
21	chr5:124362800-124363400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:124362800-124363400	Enhancers	HMEC	breast
23	chr5:124363000-124363400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:124363000-124363400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:124363000-124363400	Enhancers	Gastric	stomach
26	chr5:124363000-124368000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:124363000-124368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:124363400-124363600	Enhancers	Duodenum Mucosa	Duodenum
29	chr5:124363400-124365000	Weak transcription	Pancreas	Pancrea
30	chr5:124363400-124367000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:124363400-124367800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:124363400-124367800	Weak transcription	Gastric	stomach
33	chr5:124363400-124377600	Weak transcription	Fetal Kidney	kidney
34	chr5:124363600-124364800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:124363600-124367600	Weak transcription	Adipose Nuclei	Adipose
36	chr5:124363600-124370000	Weak transcription	Stomach Mucosa	stomach
37	chr5:124363800-124365000	Weak transcription	Fetal Heart	heart
38	chr5:124364400-124365400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr5:124364800-124365800	Enhancers	Duodenum Mucosa	Duodenum

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