Variant report

Variant	esv3493240
Chromosome Location	chr5:80039285-80039778
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	chr5:80037673..80040180-chr5:80041724..80043990,2	K562	blood:

Variant related genes	Relation type
ENSG00000248967	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79058365	chr5:80039310-80039311	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558738658	chr5:80039383-80039384	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570029385	chr5:80039459-80039460	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537695520	chr5:80039491-80039492	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554335199	chr5:80039536-80039537	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568025408	chr5:80039649-80039650	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368317743	chr5:80039672-80039673	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200458606	chr5:80039676-80039677	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201077097	chr5:80039677-80039678	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199697861	chr5:80039679-80039680	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75816530	chr5:80039680-80039681	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78009094	chr5:80039689-80039690	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369297770	chr5:80039699-80039700	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112140176	chr5:80039761-80039762	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79964800-80057800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:79971800-80112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:79985000-80100600	Weak transcription	Brain Germinal Matrix	brain
4	chr5:79998600-80051000	Weak transcription	Fetal Brain Male	brain
5	chr5:79998800-80109400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:80004000-80050400	Weak transcription	NHDF-Ad	bronchial
7	chr5:80016000-80040600	Weak transcription	Small Intestine	intestine
8	chr5:80016200-80040600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:80016200-80040600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:80016200-80043600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:80016400-80050800	Weak transcription	Psoas Muscle	Psoas
12	chr5:80020200-80043600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:80022200-80040000	Weak transcription	K562	blood
14	chr5:80022800-80040600	Weak transcription	Spleen	Spleen
15	chr5:80022800-80041400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:80022800-80051200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:80023000-80040600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:80023000-80040600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:80023000-80040600	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:80023000-80040600	Weak transcription	HUVEC	blood vessel
21	chr5:80023000-80041400	Weak transcription	Fetal Brain Female	brain
22	chr5:80023000-80043000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:80023000-80043200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:80024000-80041400	Weak transcription	NH-A	brain
25	chr5:80024200-80040600	Weak transcription	Brain Anterior Caudate	brain
26	chr5:80024200-80040600	Weak transcription	Brain Substantia Nigra	brain
27	chr5:80024200-80046800	Weak transcription	Brain Angular Gyrus	brain
28	chr5:80024400-80043400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:80026000-80039800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:80026000-80042000	Weak transcription	GM12878-XiMat	blood
31	chr5:80026200-80040600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:80026400-80040000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:80032400-80045400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:80032800-80043600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:80033200-80051400	Weak transcription	HMEC	breast
36	chr5:80034200-80049400	Strong transcription	Primary T cells from cord blood	blood
37	chr5:80034800-80050600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:80035000-80050400	Weak transcription	Stomach Mucosa	stomach
39	chr5:80035200-80042200	Weak transcription	HSMMtube	muscle
40	chr5:80036200-80041400	Weak transcription	NHLF	lung
41	chr5:80036400-80039400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:80036400-80043800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr5:80037000-80042400	Strong transcription	Fetal Thymus	thymus
44	chr5:80037200-80040800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:80037200-80049800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:80037200-80050600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:80037400-80042400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:80037400-80045800	Strong transcription	Liver	Liver
49	chr5:80037400-80049000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:80037400-80050600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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