Variant report

Variant	nsv599410
Chromosome Location	chr5:113134734-113180637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:113148118..113150483-chr5:113151367..113153040,2	K562	blood:
2	chr5:113148118..113150483-chr5:113151367..113153040,2	K562	blood:
3	chr5:113017877..113018838-chr5:113139684..113140688,6	MCF-7	breast:
4	chr5:113014588..113015273-chr5:113139880..113140620,2	MCF-7	breast:

Extended variants
information (count: 557 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560809696	chr5:113138803-113138804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140551388	chr5:113138829-113138830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553520325	chr5:113138860-113138861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574646436	chr5:113138891-113138892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10058594	chr5:113138897-113138898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549566942	chr5:113138962-113138963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571065950	chr5:113138994-113138995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188025606	chr5:113139002-113139003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575538181	chr5:113139071-113139072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545469823	chr5:113139135-113139136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564134202	chr5:113139164-113139165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566556252	chr5:113139175-113139176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572769560	chr5:113139218-113139219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539904639	chr5:113139268-113139269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80309122	chr5:113139269-113139270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1384279	chr5:113139280-113139281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548419581	chr5:113139343-113139344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371641162	chr5:113139380-113139381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115345432	chr5:113139418-113139419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149595141	chr5:113139427-113139428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143273230	chr5:113139448-113139449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570791536	chr5:113139485-113139486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535027156	chr5:113139501-113139502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547263588	chr5:113139507-113139508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148359946	chr5:113139526-113139527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568618354	chr5:113139534-113139535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59019927	chr5:113139569-113139570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141509983	chr5:113139613-113139614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569038285	chr5:113139621-113139622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566888541	chr5:113139649-113139650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539688130	chr5:113139722-113139723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147548765	chr5:113139733-113139734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192996971	chr5:113139749-113139750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533927042	chr5:113139750-113139751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539843884	chr5:113139753-113139754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185147373	chr5:113139769-113139770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116308560	chr5:113139792-113139793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115642656	chr5:113139798-113139799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542002515	chr5:113139803-113139804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35780105	chr5:113139827-113139828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563934998	chr5:113139916-113139917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531028462	chr5:113139943-113139944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140181761	chr5:113139974-113139975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564629377	chr5:113140004-113140005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528489553	chr5:113140013-113140014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190341162	chr5:113140019-113140020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547055122	chr5:113140086-113140087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74673186	chr5:113140095-113140096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542889300	chr5:113140116-113140117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17136008	chr5:113140169-113140170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113138800-113141400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:113140400-113140600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:113140600-113140800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:113140600-113141600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:113141200-113141600	Enhancers	HUVEC	blood vessel
6	chr5:113141200-113142200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:113141400-113141600	Enhancers	NHDF-Ad	bronchial
8	chr5:113141400-113142600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:113141400-113144200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:113141400-113144400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:113141600-113141800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:113141600-113141800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:113141600-113141800	Enhancers	Fetal Kidney	kidney
14	chr5:113141600-113142000	Active TSS	NHDF-Ad	bronchial
15	chr5:113141600-113142400	Flanking Active TSS	HUVEC	blood vessel
16	chr5:113141600-113142600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:113141600-113142800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:113141600-113143600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:113141600-113146400	Enhancers	Fetal Stomach	stomach
20	chr5:113141800-113142000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:113141800-113142000	Enhancers	Colon Smooth Muscle	Colon
22	chr5:113141800-113142000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr5:113141800-113142000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:113141800-113142000	Enhancers	Stomach Smooth Muscle	stomach
25	chr5:113141800-113142200	Active TSS	Adipose Nuclei	Adipose
26	chr5:113141800-113142400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:113141800-113142400	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:113141800-113142400	Flanking Active TSS	Fetal Kidney	kidney
29	chr5:113141800-113142600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:113141800-113142600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:113141800-113142800	Enhancers	Fetal Brain Female	brain
32	chr5:113141800-113143000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:113141800-113143000	Enhancers	Brain Germinal Matrix	brain
34	chr5:113141800-113143000	Enhancers	Fetal Intestine Large	intestine
35	chr5:113141800-113143600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:113141800-113143800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:113141800-113144200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:113141800-113144800	Enhancers	Fetal Lung	lung
39	chr5:113142000-113142200	Active TSS	Brain Anterior Caudate	brain
40	chr5:113142000-113142200	Flanking Active TSS	NHDF-Ad	bronchial
41	chr5:113142000-113142400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:113142000-113142400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:113142000-113142400	Active TSS	Aorta	Aorta
44	chr5:113142000-113142400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr5:113142000-113142400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr5:113142000-113142400	Enhancers	Fetal Heart	heart
47	chr5:113142000-113142400	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr5:113142000-113142400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr5:113142000-113142400	Enhancers	NHEK	skin
50	chr5:113142000-113142600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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