Variant report

Variant	nsv882230
Chromosome Location	chr5:79351544-79354647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79348642..79351231-chr5:79351742..79353321,2	MCF-7	breast:
2	chr5:79350174..79351742-chr5:79371407..79373227,2	MCF-7	breast:
3	chr5:79342559..79344595-chr5:79353378..79355370,2	MCF-7	breast:

Extended variants
information (count: 131 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs412379	chr5:79351544-79351545	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200301204	chr5:79351575-79351576	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs372997679	chr5:79351592-79351593	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs376102170	chr5:79351597-79351598	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144319149	chr5:79351610-79351611	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369263489	chr5:79351616-79351617	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs201730894	chr5:79351617-79351618	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs534778198	chr5:79351631-79351632	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs184538051	chr5:79351678-79351679	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199576579	chr5:79351693-79351694	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376440981	chr5:79351721-79351722	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141030302	chr5:79351722-79351723	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144875802	chr5:79351724-79351725	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs423906	chr5:79351735-79351736	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs17882513	chr5:79351738-79351739	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542524690	chr5:79351743-79351744	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558879193	chr5:79351767-79351768	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs572818594	chr5:79351794-79351795	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564914061	chr5:79351797-79351798	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370622639	chr5:79351825-79351826	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs71594659	chr5:79351852-79351853	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs139975507	chr5:79351856-79351857	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs386689450	chr5:79351859-79351860	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs447875	chr5:79351860-79351861	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529564747	chr5:79351866-79351867	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs73772205	chr5:79351881-79351882	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115955269	chr5:79351948-79351949	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs537911010	chr5:79351955-79351956	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370602203	chr5:79351981-79351982	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530847020	chr5:79351983-79351984	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs550652881	chr5:79352024-79352025	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189253377	chr5:79352030-79352031	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78513311	chr5:79352040-79352041	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575062366	chr5:79352057-79352058	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141297008	chr5:79352071-79352072	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17878812	chr5:79352120-79352121	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs79006209	chr5:79352177-79352178	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536114014	chr5:79352179-79352180	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116241553	chr5:79352220-79352221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573090055	chr5:79352246-79352247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544969093	chr5:79352430-79352431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376475886	chr5:79352454-79352455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17878515	chr5:79352500-79352501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534437540	chr5:79352507-79352508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544327310	chr5:79352509-79352510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78981682	chr5:79352593-79352594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs407314	chr5:79352610-79352611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543275742	chr5:79352612-79352613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372447125	chr5:79352635-79352636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6874882	chr5:79352650-79352651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79338200-79363600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:79338200-79367600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:79338400-79355200	Weak transcription	Brain Anterior Caudate	brain
4	chr5:79339200-79354600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:79340000-79363400	Weak transcription	Left Ventricle	heart
6	chr5:79344200-79355200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:79345200-79364200	Weak transcription	Right Ventricle	heart
8	chr5:79347800-79355600	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:79348200-79366400	Weak transcription	Brain Substantia Nigra	brain
10	chr5:79350600-79351600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:79350600-79363200	Weak transcription	Psoas Muscle	Psoas
12	chr5:79351000-79352000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:79351000-79352400	Enhancers	NHEK	skin
14	chr5:79351200-79351800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:79351200-79352000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:79351200-79352000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:79351200-79352000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:79351200-79352200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:79351400-79351600	Enhancers	Pancreas	Pancrea
20	chr5:79351400-79351800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:79351400-79351800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:79351400-79351800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:79351400-79351800	Flanking Active TSS	HMEC	breast
24	chr5:79351400-79352000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:79351400-79352000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr5:79351400-79352000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:79351400-79352000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:79351400-79352000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr5:79351400-79352000	Enhancers	GM12878-XiMat	blood
30	chr5:79351400-79352200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr5:79351400-79352200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:79351600-79352000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:79351600-79352200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:79351600-79352400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:79351600-79352600	Enhancers	Fetal Heart	heart
36	chr5:79351600-79379200	Weak transcription	Pancreas	Pancrea
37	chr5:79351800-79352400	Enhancers	HMEC	breast
38	chr5:79351800-79361800	Weak transcription	Primary T cells from cord blood	blood
39	chr5:79352000-79355600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:79352000-79361200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:79352000-79365200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:79352000-79365600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:79352000-79365800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:79352200-79352400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:79352200-79356600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:79352200-79359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:79352400-79378200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:79352600-79356800	Weak transcription	Fetal Heart	heart
49	chr5:79352800-79363400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr5:79353200-79354200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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