Variant report

Variant	nsv823106
Chromosome Location	chr5:79277127-79277587
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	chr5:79269309..79272565-chr5:79276555..79279232,3	MCF-7	breast:
2	chr5:79265623..79267181-chr5:79277439..79279231,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557185253	chr5:79277141-79277142	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs571274619	chr5:79277155-79277156	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550108041	chr5:79277205-79277206	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs386689445	chr5:79277215-79277216	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115540719	chr5:79277217-79277218	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542423933	chr5:79277250-79277251	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569648601	chr5:79277298-79277299	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs17196706	chr5:79277335-79277336	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs144237580	chr5:79277415-79277416	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541362372	chr5:79277418-79277419	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80294535	chr5:79277482-79277483	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564463073	chr5:79277501-79277502	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533145611	chr5:79277503-79277504	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146544293	chr5:79277508-79277509	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377104881	chr5:79277551-79277552	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563419746	chr5:79277558-79277559	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79260600-79286200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:79269000-79286400	Weak transcription	Thymus	Thymus
3	chr5:79269400-79277800	Weak transcription	Hela-S3	cervix
4	chr5:79269400-79279200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:79269600-79277800	Weak transcription	Brain Anterior Caudate	brain
6	chr5:79269800-79279200	Weak transcription	Brain Substantia Nigra	brain
7	chr5:79269800-79279400	Weak transcription	Lung	lung
8	chr5:79269800-79281400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:79269800-79286000	Weak transcription	Fetal Heart	heart
10	chr5:79270000-79286000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:79270200-79286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:79270600-79278400	Weak transcription	HepG2	liver
13	chr5:79270800-79284800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:79271000-79286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:79271200-79279400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:79271200-79280400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:79271200-79281000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:79271200-79282000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:79271200-79285200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:79271200-79285800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:79271200-79285800	Weak transcription	NHLF	lung
22	chr5:79271400-79277800	Weak transcription	NH-A	brain
23	chr5:79271400-79284000	Weak transcription	HSMMtube	muscle
24	chr5:79271400-79285400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:79271400-79286000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:79271400-79286000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:79271600-79277800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:79271600-79280800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:79271600-79286000	Weak transcription	HUVEC	blood vessel
30	chr5:79271800-79277800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:79272200-79279400	Weak transcription	Spleen	Spleen
32	chr5:79272200-79286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:79272400-79279400	Weak transcription	Right Ventricle	heart
34	chr5:79272400-79285000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:79272400-79286400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:79272400-79286400	Weak transcription	Pancreas	Pancrea
37	chr5:79272600-79284800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:79272600-79285000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:79272600-79285000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:79272600-79285200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:79272600-79286000	Weak transcription	Small Intestine	intestine
42	chr5:79272600-79286400	Weak transcription	Gastric	stomach
43	chr5:79272800-79279400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:79272800-79285000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:79272800-79285400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:79273000-79284600	Strong transcription	Fetal Intestine Large	intestine
47	chr5:79273000-79284800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:79273000-79284800	Strong transcription	Adipose Nuclei	Adipose
49	chr5:79273400-79286000	Weak transcription	Aorta	Aorta
50	chr5:79273600-79284600	Strong transcription	Placenta	Placenta

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