Variant report

Variant	nsv1021507
Chromosome Location	chr5:119224343-119280591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:119278619..119279545-chr5:119793318..119794660,3	MCF-7	breast:
2	chr5:119278671..119279490-chr5:119662851..119663369,2	MCF-7	breast:
3	chr2:185990403..185991343-chr5:119236365..119236898,2	MCF-7	breast:
4	chr18:65208157..65208941-chr5:119229771..119230382,2	MCF-7	breast:

Extended variants
information (count: 364 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184627428	chr5:119228006-119228007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561926837	chr5:119228062-119228063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530444406	chr5:119228124-119228125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533290611	chr5:119228138-119228139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189459426	chr5:119228148-119228149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs36123705	chr5:119228150-119228151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374492156	chr5:119228159-119228160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148471737	chr5:119228196-119228197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180716691	chr5:119228200-119228201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552541550	chr5:119228224-119228225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142696871	chr5:119228234-119228235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534854640	chr5:119228238-119228239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560143713	chr5:119228248-119228249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147562390	chr5:119228252-119228253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574770889	chr5:119228273-119228274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537086977	chr5:119228281-119228282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557316845	chr5:119228282-119228283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577316891	chr5:119228285-119228286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527702133	chr5:119228321-119228322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546285345	chr5:119228409-119228410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142003676	chr5:119228421-119228422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145852046	chr5:119228425-119228426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542015613	chr5:119228434-119228435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561988791	chr5:119228514-119228515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530816652	chr5:119228542-119228543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186047351	chr5:119228548-119228549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564105577	chr5:119228596-119228597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191069662	chr5:119228605-119228606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181831706	chr5:119228607-119228608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368912789	chr5:119228640-119228641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371570384	chr5:119228694-119228695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566202397	chr5:119228696-119228697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375030539	chr5:119228713-119228714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367705047	chr5:119228719-119228720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568442710	chr5:119228720-119228721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185933390	chr5:119228733-119228734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114668603	chr5:119228751-119228752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115258208	chr5:119228752-119228753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147804591	chr5:119228761-119228762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557327522	chr5:119228801-119228802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549998391	chr5:119228849-119228850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2973963	chr5:119228851-119228852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11241518	chr5:119228879-119228880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs552831491	chr5:119228921-119228922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73251893	chr5:119228983-119228984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553924162	chr5:119229093-119229094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542078796	chr5:119229119-119229120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141248705	chr5:119229154-119229155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190388582	chr5:119229218-119229219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565642769	chr5:119229219-119229220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119228000-119228200	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr5:119228200-119228800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr5:119228600-119229000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:119229000-119233000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:119229600-119229800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:119232200-119232400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr5:119232200-119233200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:119232400-119232800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr5:119232400-119233600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr5:119232800-119233800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr5:119233000-119233800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:119233800-119234400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:119249000-119249400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:119249400-119249800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:119249400-119250000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:119249600-119250000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:119264600-119264800	Active TSS	Gastric	stomach
18	chr5:119264800-119265000	Enhancers	Aorta	Aorta
19	chr5:119264800-119266400	Weak transcription	Gastric	stomach

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