Variant report

Variant	esv3401836
Chromosome Location	chr5:74876471-74876650
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	chr3:167116749..167117659-chr5:74876077..74876717,2	MCF-7	breast:
2	chr5:74811981..74814673-chr5:74874113..74876597,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145403964	chr5:74876498-74876499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182485130	chr5:74876555-74876556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141782120	chr5:74876567-74876568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188050261	chr5:74876582-74876583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs5744667	chr5:74876613-74876614	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191141602	chr5:74876630-74876631	Weak transcription Strong transcription	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
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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	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
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
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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	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
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
2	chr5:74822800-74896000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:74831200-74877200	Weak transcription	Fetal Kidney	kidney
4	chr5:74833400-74906800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:74839400-74897400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:74841200-74899400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:74850000-74878000	Weak transcription	HepG2	liver
8	chr5:74850200-74896200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:74854000-74883400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:74862200-74897800	Weak transcription	Brain Germinal Matrix	brain
11	chr5:74862600-74887600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:74862600-74888800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:74862600-74897200	Weak transcription	Lung	lung
14	chr5:74862800-74888600	Weak transcription	Fetal Intestine Small	intestine
15	chr5:74862800-74888800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:74862800-74897400	Weak transcription	Pancreas	Pancrea
17	chr5:74862800-74897400	Weak transcription	Spleen	Spleen
18	chr5:74862800-74897600	Weak transcription	Gastric	stomach
19	chr5:74862800-74907200	Weak transcription	Esophagus	oesophagus
20	chr5:74863000-74886400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:74863000-74896200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:74863600-74905800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:74863800-74883800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:74863800-74906800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:74864000-74877800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:74864000-74884200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:74864000-74889000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:74864000-74897400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:74864000-74897400	Weak transcription	NHEK	skin
30	chr5:74864000-74899600	Weak transcription	Hela-S3	cervix
31	chr5:74864000-74907000	Weak transcription	Psoas Muscle	Psoas
32	chr5:74864200-74880400	Weak transcription	Stomach Mucosa	stomach
33	chr5:74864200-74884600	Weak transcription	Fetal Heart	heart
34	chr5:74864200-74886400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:74864600-74876800	Weak transcription	HUVEC	blood vessel
36	chr5:74865800-74877000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:74865800-74906800	Weak transcription	Colonic Mucosa	Colon
38	chr5:74866000-74877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:74866000-74880800	Weak transcription	Ovary	ovary
40	chr5:74867600-74907200	Weak transcription	Small Intestine	intestine
41	chr5:74869400-74893400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr5:74871000-74886400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:74871400-74877000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:74871400-74877600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:74871400-74877600	Weak transcription	NHLF	lung
46	chr5:74871400-74880800	Weak transcription	A549	lung
47	chr5:74871400-74883400	Weak transcription	NH-A	brain
48	chr5:74871400-74889200	Weak transcription	Left Ventricle	heart
49	chr5:74871400-74889400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:74871400-74897400	Weak transcription	Aorta	Aorta

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