Variant report

Variant	esv1216064
Chromosome Location	chr5:79477238-79477250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79452539..79454095-chr5:79475595..79477433,2	MCF-7	breast:
2	chr5:79476693..79485233-chr5:79549461..79554550,14	MCF-7	breast:
3	chr5:79476108..79478145-chr5:79532399..79535168,2	MCF-7	breast:
4	chr5:79476714..79480017-chr5:79541868..79545236,4	MCF-7	breast:
5	chr5:79473747..79483322-chr5:79549257..79556501,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164300	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 82 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113118702	chr5:79477238-79477239	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Schizophrenia	20967226	CNVD
Glioblastoma multiforme	21510904	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79438600-79482600	Weak transcription	Psoas Muscle	Psoas
2	chr5:79442000-79487600	Weak transcription	NH-A	brain
3	chr5:79450000-79477600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:79458600-79479600	Weak transcription	Fetal Brain Female	brain
5	chr5:79464800-79477600	Weak transcription	GM12878-XiMat	blood
6	chr5:79465600-79477600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:79465800-79481000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:79466400-79480400	Weak transcription	Fetal Brain Male	brain
9	chr5:79469000-79477600	Weak transcription	HSMM	muscle
10	chr5:79470000-79485000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:79470800-79480000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:79471000-79488000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:79473400-79478800	Weak transcription	Lung	lung
14	chr5:79473600-79482600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:79473600-79483200	Weak transcription	Fetal Stomach	stomach
16	chr5:79473600-79487600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:79473800-79477400	Weak transcription	NHEK	skin
18	chr5:79473800-79477600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:79473800-79477600	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:79473800-79478800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr5:79473800-79478800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:79473800-79479200	Enhancers	Fetal Thymus	thymus
23	chr5:79473800-79482600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:79473800-79482800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:79473800-79486400	Weak transcription	HSMMtube	muscle
26	chr5:79473800-79487600	Weak transcription	Aorta	Aorta
27	chr5:79473800-79487600	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:79474000-79477400	Weak transcription	Osteobl	bone
29	chr5:79474000-79478800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr5:79474000-79482400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr5:79474000-79482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:79474000-79487200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:79474800-79483200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:79475000-79477600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:79475000-79484800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr5:79475200-79477400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:79475200-79480800	Enhancers	Brain Hippocampus Middle	brain
38	chr5:79475200-79481200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:79475200-79481200	Enhancers	Brain Cingulate Gyrus	brain
40	chr5:79475400-79480600	Enhancers	Fetal Intestine Small	intestine
41	chr5:79475400-79481200	Enhancers	Fetal Intestine Large	intestine
42	chr5:79475600-79477800	Enhancers	Liver	Liver
43	chr5:79475600-79478200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:79475600-79478200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr5:79475600-79480400	Enhancers	Fetal Kidney	kidney
46	chr5:79475600-79481200	Enhancers	Primary hematopoietic stem cells	blood
47	chr5:79475600-79481400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr5:79475800-79478800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:79475800-79479600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:79475800-79479800	Enhancers	HUES64 Cell Line	embryonic stem cell

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