Variant report

Variant	nsv882525
Chromosome Location	chr5:103279166-103375179
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103368340..103370604-chr5:103378682..103380421,2	K562	blood:
2	chr5:103345748..103348145-chr5:103348952..103350632,2	MCF-7	breast:
3	chr5:103318857..103321649-chr5:103330625..103332351,2	K562	blood:
4	chr5:103350349..103353256-chr5:103356744..103358667,2	K562	blood:
5	chr5:103343568..103345727-chr5:103350529..103352684,2	K562	blood:
6	chr5:103343568..103345727-chr5:103350529..103352684,2	K562	blood:
7	chr5:103318857..103321649-chr5:103330625..103332351,2	K562	blood:
8	chr5:103350349..103353256-chr5:103356744..103358667,2	K562	blood:
9	chr5:103345748..103348145-chr5:103348952..103350632,2	MCF-7	breast:

No data

Extended variants
information (count: 2127 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2127 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10464000	chr5:103279166-103279167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141095418	chr5:103279182-103279183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552469353	chr5:103279193-103279194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568833405	chr5:103279201-103279202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143193180	chr5:103279212-103279213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534040354	chr5:103279222-103279223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554207738	chr5:103279277-103279278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200761445	chr5:103279307-103279308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547989332	chr5:103279380-103279381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs246385	chr5:103279409-103279410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534344913	chr5:103279427-103279428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553865366	chr5:103279429-103279430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146663833	chr5:103279483-103279484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140309776	chr5:103279497-103279498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556865094	chr5:103279521-103279522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76973547	chr5:103279522-103279523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542397383	chr5:103279529-103279530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556045122	chr5:103279539-103279540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375819183	chr5:103279580-103279581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557757889	chr5:103279581-103279582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572844045	chr5:103279587-103279588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559869166	chr5:103279670-103279671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191366996	chr5:103279696-103279697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112833983	chr5:103279697-103279698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113425279	chr5:103279710-103279711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368269778	chr5:103279723-103279724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531504015	chr5:103279760-103279761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547976994	chr5:103279811-103279812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529202549	chr5:103279844-103279845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567949903	chr5:103279898-103279899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547848443	chr5:103279928-103279929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544462581	chr5:103279931-103279932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143501907	chr5:103279966-103279967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547841467	chr5:103279976-103279977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570874527	chr5:103280010-103280011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9942397	chr5:103280081-103280082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533486423	chr5:103280100-103280101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183668634	chr5:103280104-103280105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570362330	chr5:103280140-103280141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200127503	chr5:103280142-103280143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189555886	chr5:103280153-103280154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141055430	chr5:103280163-103280164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572626887	chr5:103280165-103280166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150236330	chr5:103280166-103280167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371877279	chr5:103280177-103280178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553794849	chr5:103280201-103280202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79976650	chr5:103280264-103280265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569868366	chr5:103280273-103280274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545345380	chr5:103280285-103280286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562190862	chr5:103280304-103280305	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103277800-103281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:103278600-103279200	Enhancers	Brain Substantia Nigra	brain
3	chr5:103278600-103279400	Enhancers	Brain Angular Gyrus	brain
4	chr5:103281200-103289600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:103285200-103285600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:103285200-103285800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:103289400-103290000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:103289600-103290000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:103289600-103290200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:103290400-103290800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:103290800-103291000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:103291000-103291200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:103291200-103291800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:103302400-103304200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:103310000-103310400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:103320200-103321200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:103327000-103327200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr5:103327000-103327200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:103327200-103328800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:103327400-103328400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:103328400-103330400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:103328400-103331200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:103328600-103330000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:103328600-103330400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:103328800-103330000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr5:103328800-103330200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:103328800-103330200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:103329000-103330000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:103330200-103330800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:103330400-103330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:103330800-103331000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:103330800-103331400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:103331200-103337000	Weak transcription	Fetal Brain Male	brain
34	chr5:103335600-103336200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:103337000-103337800	Enhancers	Fetal Brain Male	brain
36	chr5:103339400-103340600	Enhancers	Fetal Lung	lung
37	chr5:103339800-103340600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:103340000-103340400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:103340600-103343800	Weak transcription	Fetal Lung	lung
40	chr5:103342400-103342600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:103343200-103344800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:103343400-103345000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:103343800-103344200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr5:103343800-103344200	Enhancers	Fetal Lung	lung
45	chr5:103343800-103344800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:103343800-103345000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:103343800-103345000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:103343800-103345000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr5:103344200-103344800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:103351600-103353000	Enhancers	Muscle Satellite Cultured Cells	--

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