Variant report

Variant	nsv980573
Chromosome Location	chr5:93255694-93260934
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	chr5:93259705..93262376-chr5:93294800..93297613,2	MCF-7	breast:

Extended variants
information (count: 169 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534455977	chr5:93255694-93255695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538832817	chr5:93255888-93255889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183262198	chr5:93255901-93255902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373306373	chr5:93255946-93255947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559139130	chr5:93255992-93255993	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535724158	chr5:93256041-93256042	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555907358	chr5:93256052-93256053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575447583	chr5:93256121-93256122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544290539	chr5:93256128-93256129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532172985	chr5:93256159-93256160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188410260	chr5:93256191-93256192	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76176128	chr5:93256250-93256251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371333654	chr5:93256265-93256266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147001068	chr5:93256306-93256307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370107243	chr5:93256330-93256331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548931209	chr5:93256380-93256381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562326662	chr5:93256386-93256387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201640389	chr5:93256433-93256434	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs193152426	chr5:93256453-93256454	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs184942915	chr5:93256473-93256474	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189783630	chr5:93256504-93256505	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs77879689	chr5:93256581-93256582	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs74790720	chr5:93256604-93256605	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs192433099	chr5:93256613-93256614	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556012617	chr5:93256616-93256617	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183703882	chr5:93256644-93256645	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs537943467	chr5:93256654-93256655	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs557845047	chr5:93256700-93256701	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113139308	chr5:93256724-93256725	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs188027088	chr5:93256731-93256732	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560071641	chr5:93256744-93256745	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376463492	chr5:93256794-93256795	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs115592516	chr5:93256822-93256823	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs542871123	chr5:93256829-93256830	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181907256	chr5:93256834-93256835	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531354766	chr5:93256848-93256849	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs35084997	chr5:93256862-93256863	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs140999073	chr5:93256863-93256864	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs35160197	chr5:93256882-93256883	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs544796618	chr5:93256891-93256892	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564290987	chr5:93256893-93256894	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs76831854	chr5:93256949-93256950	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs533445699	chr5:93256953-93256954	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75768370	chr5:93256975-93256976	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs79291886	chr5:93256987-93256988	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77944614	chr5:93256988-93256989	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs75098928	chr5:93257002-93257003	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76977089	chr5:93257044-93257045	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546714008	chr5:93257045-93257046	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs75508842	chr5:93257062-93257063	Weak transcription Strong transcription Enhancers Flanking Active TSS	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	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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93194200-93307600	Weak transcription	Left Ventricle	heart
2	chr5:93213000-93256400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:93226800-93269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:93228000-93266600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:93249600-93261000	Weak transcription	NHDF-Ad	bronchial
6	chr5:93250000-93262200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:93250200-93273800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:93250800-93259200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:93251800-93255800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:93252200-93284400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:93253000-93259000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:93253200-93263200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:93254800-93255800	Weak transcription	Dnd41	blood
14	chr5:93255800-93256200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:93255800-93256400	Enhancers	Dnd41	blood
16	chr5:93255800-93258200	Enhancers	Fetal Thymus	thymus
17	chr5:93256000-93256400	Enhancers	Thymus	Thymus
18	chr5:93256200-93259600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:93256400-93256800	Flanking Active TSS	Thymus	Thymus
20	chr5:93256400-93257200	Strong transcription	Primary B cells from cord blood	blood
21	chr5:93256400-93258000	Flanking Active TSS	Dnd41	blood
22	chr5:93256800-93258000	Enhancers	Thymus	Thymus
23	chr5:93257000-93270200	Weak transcription	Primary T cells from cord blood	blood
24	chr5:93257200-93287400	Weak transcription	Primary B cells from cord blood	blood
25	chr5:93257400-93260400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:93258000-93258200	Enhancers	Dnd41	blood
27	chr5:93259800-93263200	Enhancers	NHEK	skin
28	chr5:93260000-93261200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:93260000-93261400	Enhancers	HSMM	muscle
30	chr5:93260000-93261800	Enhancers	HMEC	breast
31	chr5:93260000-93263200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:93260000-93263400	Enhancers	HSMMtube	muscle
33	chr5:93260200-93261600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:93260400-93261400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:93260400-93261400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:93260600-93260800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:93260800-93261800	Enhancers	HUVEC	blood vessel

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