Variant report

Variant	nsv599282
Chromosome Location	chr5:104745584-104812752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104740786..104743331-chr5:104745586..104748363,2	K562	blood:
2	chr5:104768629..104770858-chr5:104785097..104787270,2	K562	blood:
3	chr5:104805339..104808156-chr5:104810446..104813222,2	MCF-7	breast:
4	chr5:104778136..104780320-chr5:104785388..104787017,2	K562	blood:
5	chr5:104778136..104780320-chr5:104785388..104787017,2	K562	blood:
6	chr5:104805339..104808156-chr5:104810446..104813222,2	MCF-7	breast:
7	chr5:104810915..104813579-chr5:104817384..104819206,2	MCF-7	breast:
8	chr5:104727296..104728816-chr5:104790778..104793743,2	K562	blood:
9	chr5:104727742..104729434-chr5:104763198..104765492,2	K562	blood:
10	chr5:104768629..104770858-chr5:104785097..104787270,2	K562	blood:
11	chr1:184434764..184435543-chr5:104792004..104792524,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251574	chromatin interactions

Extended variants
information (count: 637 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:637 , 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	rs190997490	chr5:104748656-104748657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546568599	chr5:104748728-104748729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56120870	chr5:104748828-104748829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182839867	chr5:104748838-104748839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542263216	chr5:104748923-104748924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79349674	chr5:104748935-104748936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527652722	chr5:104748946-104748947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141971034	chr5:104748968-104748969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564550253	chr5:104749066-104749067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74703834	chr5:104749209-104749210	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs115788228	chr5:104749248-104749249	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs568661402	chr5:104749268-104749269	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs537668645	chr5:104749285-104749286	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs548232884	chr5:104749291-104749292	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs536765988	chr5:104749308-104749309	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs550148532	chr5:104749313-104749314	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs147259314	chr5:104749362-104749363	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs533917533	chr5:104749373-104749374	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs140825277	chr5:104749379-104749380	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs576956920	chr5:104749380-104749381	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs376297637	chr5:104749381-104749382	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs34048834	chr5:104749382-104749383	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs556899981	chr5:104749403-104749404	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs114351754	chr5:104749404-104749405	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs187724382	chr5:104749412-104749413	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs562342194	chr5:104749449-104749450	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs571245700	chr5:104749450-104749451	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs369223995	chr5:104749490-104749491	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs530490059	chr5:104749491-104749492	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs541553604	chr5:104749520-104749521	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs564098534	chr5:104749538-104749539	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs533157519	chr5:104749545-104749546	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs552022933	chr5:104749566-104749567	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs191253110	chr5:104749573-104749574	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs531664873	chr5:104749592-104749593	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs183005160	chr5:104749658-104749659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11739539	chr5:104749679-104749680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7707957	chr5:104749687-104749688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533642971	chr5:104749696-104749697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376877882	chr5:104749706-104749707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374348774	chr5:104749733-104749734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192228614	chr5:104749769-104749770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570418431	chr5:104749772-104749773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185766143	chr5:104757831-104757832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191527786	chr5:104757866-104757867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577653908	chr5:104757906-104757907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183418468	chr5:104757907-104757908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187131478	chr5:104757919-104757920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556794368	chr5:104757940-104757941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573714892	chr5:104757990-104757991	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Renal cell carcinoma	18194544	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
Obesity	20622171	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104748600-104749200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:104748800-104749200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:104749200-104749600	Bivalent Enhancer	Placenta	Placenta
4	chr5:104749200-104749800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:104757800-104758600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:104763400-104764400	Enhancers	Fetal Intestine Large	intestine
7	chr5:104766000-104767600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:104767600-104768600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:104768600-104769000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:104768600-104769200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:104796000-104801800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:104811600-104811800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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