Variant report

Variant	nsv1019907
Chromosome Location	chr5:101360694-101413501
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	chr5:101361879..101363839-chr5:101365059..101366576,2	MCF-7	breast:
2	chr5:101361879..101363839-chr5:101365059..101366576,2	MCF-7	breast:

Extended variants
information (count: 602 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561394341	chr5:101366637-101366638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561913523	chr5:101366641-101366642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78461063	chr5:101366694-101366695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs137920155	chr5:101366700-101366701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116755277	chr5:101366716-101366717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532915028	chr5:101366730-101366731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370093157	chr5:101366783-101366784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571685876	chr5:101366803-101366804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528284478	chr5:101366827-101366828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563538938	chr5:101366842-101366843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141350293	chr5:101366868-101366869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150234319	chr5:101366897-101366898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35922130	chr5:101366993-101366994	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528107633	chr5:101366996-101366997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548067042	chr5:101367008-101367009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116493067	chr5:101367012-101367013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186844430	chr5:101367036-101367037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376431182	chr5:101367048-101367049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111441400	chr5:101367080-101367081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530797899	chr5:101367097-101367098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550989803	chr5:101367166-101367167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191737951	chr5:101367192-101367193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs881236	chr5:101367263-101367264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540762488	chr5:101367294-101367295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182459439	chr5:101367318-101367319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552994579	chr5:101367352-101367353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536651088	chr5:101367433-101367434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577505097	chr5:101367438-101367439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187190320	chr5:101367468-101367469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2400572	chr5:101367494-101367495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191710528	chr5:101367511-101367512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149443272	chr5:101367535-101367536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560973214	chr5:101367617-101367618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182047312	chr5:101367635-101367636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs5870009	chr5:101367706-101367707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546611617	chr5:101367711-101367712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397753213	chr5:101367714-101367715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558552311	chr5:101367727-101367728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533440350	chr5:101367749-101367750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187660829	chr5:101367769-101367770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4495148	chr5:101367782-101367783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs537661574	chr5:101367789-101367790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144827379	chr5:101367799-101367800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193217215	chr5:101367800-101367801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368457770	chr5:101367822-101367823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs899048	chr5:101367866-101367867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7714737	chr5:101367867-101367868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376128760	chr5:101367877-101367878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577643148	chr5:101367907-101367908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185688819	chr5:101367954-101367955	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101366600-101367200	Enhancers	Fetal Intestine Large	intestine
2	chr5:101367200-101367600	Weak transcription	Fetal Intestine Large	intestine
3	chr5:101367600-101368000	Enhancers	Fetal Intestine Large	intestine
4	chr5:101372200-101373200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:101372200-101373600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:101372400-101373000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:101372600-101373000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:101372600-101373000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:101372600-101373000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:101372600-101373000	Enhancers	Adipose Nuclei	Adipose
11	chr5:101372600-101373000	Enhancers	Fetal Lung	lung
12	chr5:101373000-101373400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:101373000-101375600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:101373000-101375800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:101373200-101376000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:101373400-101373600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:101373600-101375800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:101375600-101376000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:101375600-101376400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:101375600-101376600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:101375800-101376600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:101375800-101376600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:101376000-101376400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:101376000-101376400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr5:101376000-101376400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:101376000-101376400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:101376000-101376400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr5:101376000-101376400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:101376000-101376400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:101376000-101376400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:101376400-101376600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:101384400-101386200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:101384400-101386200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:101384600-101386200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr5:101384800-101385600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:101384800-101386000	Enhancers	Fetal Intestine Large	intestine
37	chr5:101384800-101386000	Enhancers	Fetal Intestine Small	intestine
38	chr5:101385200-101386200	Enhancers	Primary hematopoietic stem cells	blood
39	chr5:101386200-101387400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:101387400-101387800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:101400600-101400800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:101401000-101401200	Enhancers	Gastric	stomach
43	chr5:101401400-101403000	Enhancers	Fetal Intestine Large	intestine
44	chr5:101401600-101403000	Enhancers	Fetal Intestine Small	intestine
45	chr5:101402800-101403400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:101403400-101404200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:101405000-101405600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:101405400-101405600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:101405400-101405800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:101405600-101407000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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