Variant report

Variant	nsv980994
Chromosome Location	chr5:111660029-111665860
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	chr5:111664622..111667062-chr5:111669246..111671249,2	K562	blood:

Extended variants
information (count: 250 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538670417	chr5:111660108-111660109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13184663	chr5:111660159-111660160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572487549	chr5:111660190-111660191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189135998	chr5:111660203-111660204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181515468	chr5:111660223-111660224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555140134	chr5:111660290-111660291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576564264	chr5:111660291-111660292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544088601	chr5:111660312-111660313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539121606	chr5:111660343-111660344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576877040	chr5:111660346-111660347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541004207	chr5:111660370-111660371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186013075	chr5:111660415-111660416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528239733	chr5:111660418-111660419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60242363	chr5:111660437-111660438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529794777	chr5:111660446-111660447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374070243	chr5:111660452-111660453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547985887	chr5:111660462-111660463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11953449	chr5:111660474-111660475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139515955	chr5:111660541-111660542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34874965	chr5:111660584-111660585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530636312	chr5:111660651-111660652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370418549	chr5:111660717-111660718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533776973	chr5:111660785-111660786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144261021	chr5:111660786-111660787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147795352	chr5:111660789-111660790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190388069	chr5:111660825-111660826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11392450	chr5:111660836-111660837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397948253	chr5:111660837-111660838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540781771	chr5:111660847-111660848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141382920	chr5:111660886-111660887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565986916	chr5:111660910-111660911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572965677	chr5:111660921-111660922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs821744	chr5:111660939-111660940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145126654	chr5:111660958-111660959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537660024	chr5:111660966-111660967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559221053	chr5:111660967-111660968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573892475	chr5:111660970-111660971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577595360	chr5:111660979-111660980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149104786	chr5:111660995-111660996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552887839	chr5:111660998-111660999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574361468	chr5:111660999-111661000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541877927	chr5:111661067-111661068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563261887	chr5:111661077-111661078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56293447	chr5:111661086-111661087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545580109	chr5:111661122-111661123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563981758	chr5:111661125-111661126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11294749	chr5:111661140-111661141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528365379	chr5:111661158-111661159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546579582	chr5:111661188-111661189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566023511	chr5:111661206-111661207	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	22341455	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111652800-111665200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:111652800-111666800	Weak transcription	Right Ventricle	heart
4	chr5:111652800-111667000	Weak transcription	Esophagus	oesophagus
5	chr5:111653200-111674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:111657000-111665200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:111658600-111665400	Weak transcription	Lung	lung
8	chr5:111658600-111666800	Weak transcription	Left Ventricle	heart
9	chr5:111659200-111668800	Weak transcription	Pancreas	Pancrea
10	chr5:111659600-111661200	Weak transcription	Fetal Heart	heart
11	chr5:111661200-111661400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr5:111661200-111661600	Enhancers	Fetal Heart	heart
13	chr5:111661400-111669000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:111661600-111664200	Weak transcription	Fetal Heart	heart
15	chr5:111664200-111669000	Enhancers	Fetal Heart	heart
16	chr5:111664400-111665000	Enhancers	HUVEC	blood vessel
17	chr5:111664600-111665000	Enhancers	GM12878-XiMat	blood
18	chr5:111664600-111665600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:111664600-111666000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:111664600-111666200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:111664800-111666000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:111665000-111665400	Flanking Active TSS	HUVEC	blood vessel
23	chr5:111665000-111665600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:111665000-111665600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:111665000-111665600	Enhancers	Fetal Kidney	kidney
26	chr5:111665000-111665600	Flanking Active TSS	GM12878-XiMat	blood
27	chr5:111665000-111665800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:111665000-111665800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:111665000-111665800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:111665000-111666000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:111665000-111666000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:111665000-111666000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr5:111665000-111666200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:111665200-111665400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:111665200-111665400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:111665200-111665400	Enhancers	Spleen	Spleen
37	chr5:111665200-111665600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:111665200-111665600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:111665200-111665600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:111665200-111665600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:111665200-111665600	Enhancers	Fetal Brain Female	brain
42	chr5:111665200-111665600	Enhancers	Fetal Lung	lung
43	chr5:111665200-111665600	Enhancers	Right Atrium	heart
44	chr5:111665200-111665600	Enhancers	NHEK	skin
45	chr5:111665200-111665800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:111665200-111665800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:111665200-111666000	Enhancers	Adipose Nuclei	Adipose
48	chr5:111665200-111666200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:111665400-111665600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:111665400-111665600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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