Variant report

Variant	nsv4946
Chromosome Location	chr5:105120042-105164556
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	chr5:104726359..104728666-chr5:105131284..105132821,2	K562	blood:

Extended variants
information (count: 445 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559183151	chr5:105123216-105123217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528278843	chr5:105123246-105123247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147556391	chr5:105123247-105123248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564844223	chr5:105123250-105123251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184817849	chr5:105123280-105123281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189342730	chr5:105123299-105123300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550673144	chr5:105123341-105123342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567316668	chr5:105123343-105123344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373927978	chr5:105123384-105123385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529703130	chr5:105123405-105123406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547325342	chr5:105123428-105123429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141927325	chr5:105123442-105123443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144212220	chr5:105123443-105123444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551012167	chr5:105123452-105123453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559071603	chr5:105123476-105123477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569332874	chr5:105123515-105123516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs286702	chr5:105123521-105123522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554635910	chr5:105123526-105123527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181961225	chr5:105123554-105123555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183620331	chr5:105123591-105123592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189654356	chr5:105123598-105123599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573058861	chr5:105123608-105123609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13162404	chr5:105123629-105123630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151314068	chr5:105123642-105123643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565116409	chr5:105123714-105123715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369401385	chr5:105125233-105125234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548451602	chr5:105125234-105125235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373173269	chr5:105125273-105125274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561992000	chr5:105125284-105125285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34791060	chr5:105125355-105125356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564738589	chr5:105125451-105125452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527871304	chr5:105125453-105125454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547878207	chr5:105125458-105125459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138876431	chr5:105125512-105125513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539841212	chr5:105125538-105125539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549870838	chr5:105125568-105125569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570047918	chr5:105125584-105125585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184440453	chr5:105127211-105127212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189708855	chr5:105127227-105127228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533819426	chr5:105127228-105127229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149665843	chr5:105127254-105127255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181234989	chr5:105127276-105127277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76894494	chr5:105127280-105127281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185679864	chr5:105127352-105127353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574981529	chr5:105127379-105127380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533450593	chr5:105127443-105127444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56193757	chr5:105127476-105127477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571984516	chr5:105127541-105127542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs66537732	chr5:105140235-105140236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568966712	chr5:105140263-105140264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105123200-105123800	Enhancers	HUVEC	blood vessel
2	chr5:105125200-105125600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:105127200-105127600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:105140200-105141000	Weak transcription	Aorta	Aorta
5	chr5:105142000-105143400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:105143600-105144000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:105146200-105146800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:105147800-105148200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:105147800-105148600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:105148200-105152800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:105148600-105153000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:105152600-105153200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:105152600-105153800	Enhancers	NHDF-Ad	bronchial
14	chr5:105152600-105154000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:105152800-105153000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:105152800-105153800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:105153000-105153200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:105153000-105154000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:105153200-105153800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:105153800-105154000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:105162000-105162200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:105162000-105162400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:105162000-105162400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:105162000-105162600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:105162000-105162600	Enhancers	Adipose Nuclei	Adipose
26	chr5:105162200-105162600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:105162200-105162600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:105164000-105172200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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