Variant report

Variant	nsv882636
Chromosome Location	chr5:104864551-104995466
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104943469..104946264-chr5:104959458..104962320,2	K562	blood:
2	chr5:104955261..104956180-chr5:105577014..105577827,4	MCF-7	breast:
3	chr5:104369743..104372595-chr5:104912590..104914639,2	K562	blood:
4	chr5:104926004..104928970-chr5:104930124..104932222,3	K562	blood:
5	chr5:103982040..103982621-chr5:104952113..104952873,2	MCF-7	breast:
6	chr5:104950620..104953196-chr5:104960454..104963137,2	K562	blood:
7	chr5:104952005..104953083-chr5:105576858..105577888,8	MCF-7	breast:
8	chr5:104929507..104932104-chr5:104932394..104934135,2	MCF-7	breast:
9	chr5:104928031..104930264-chr5:104952247..104955234,2	MCF-7	breast:
10	chr5:104524711..104526370-chr5:104889242..104892104,2	K562	blood:
11	chr5:104886320..104887974-chr5:104890366..104891898,2	MCF-7	breast:
12	chr5:104943469..104946264-chr5:104959458..104962320,2	K562	blood:
13	chr4:114611671..114612572-chr5:104870661..104871343,2	MCF-7	breast:
14	chr5:104733236..104736068-chr5:104886596..104888346,2	MCF-7	breast:
15	chr5:104929507..104932104-chr5:104932394..104934135,2	MCF-7	breast:
16	chr5:104926004..104928970-chr5:104930124..104932222,3	K562	blood:
17	chr5:104952039..104952571-chr5:105577029..105577838,2	MCF-7	breast:
18	chr5:104952188..104952864-chr5:105577091..105577886,5	MCF-7	breast:
19	chr5:104955524..104956144-chr5:105577134..105577974,2	MCF-7	breast:
20	chr5:104950620..104953196-chr5:104960454..104963137,2	K562	blood:
21	chr5:104886320..104887974-chr5:104890366..104891898,2	MCF-7	breast:
22	chr5:104927470..104929144-chr5:104929220..104932182,2	K562	blood:
23	chr5:104952005..104953083-chr5:105576858..105577888,9	MCF-7	breast:
24	chr5:104928031..104930264-chr5:104952247..104955234,2	MCF-7	breast:
25	chr5:104927470..104929144-chr5:104929220..104932182,2	K562	blood:

No data

Extended variants
information (count: 1202 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1202 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4128686	chr5:104864551-104864552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549289896	chr5:104864553-104864554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567273341	chr5:104864556-104864557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146580828	chr5:104864583-104864584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193185134	chr5:104864599-104864600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546863228	chr5:104864688-104864689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567019308	chr5:104864763-104864764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539256065	chr5:104864778-104864779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4128685	chr5:104864838-104864839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140008041	chr5:104864843-104864844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538230231	chr5:104864882-104864883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74375841	chr5:104864929-104864930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540631980	chr5:104864999-104865000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185496887	chr5:104865078-104865079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377716458	chr5:104865080-104865081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78179534	chr5:104865096-104865097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578045763	chr5:104865100-104865101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145724996	chr5:104865115-104865116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115358248	chr5:104865116-104865117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544814693	chr5:104865145-104865146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564629095	chr5:104865250-104865251	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190798290	chr5:104865253-104865254	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538784395	chr5:104865271-104865272	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs560973484	chr5:104865288-104865289	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs180850595	chr5:104865332-104865333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs547243415	chr5:104865333-104865334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs370030264	chr5:104865343-104865344	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs567171795	chr5:104865378-104865379	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs183787656	chr5:104865411-104865412	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374145834	chr5:104865418-104865419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557917763	chr5:104865443-104865444	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs188513131	chr5:104865456-104865457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs181324381	chr5:104865457-104865458	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs149107979	chr5:104865535-104865536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs143207702	chr5:104865545-104865546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs568416796	chr5:104865551-104865552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs201751267	chr5:104865583-104865584	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs558916353	chr5:104865613-104865614	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs546307591	chr5:104865632-104865633	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114807769	chr5:104865649-104865650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377681682	chr5:104865683-104865684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs151194770	chr5:104865746-104865747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558358732	chr5:104865793-104865794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs574977882	chr5:104865799-104865800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs370358158	chr5:104865803-104865804	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374454809	chr5:104865879-104865880	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs544259582	chr5:104865899-104865900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549731445	chr5:104865903-104865904	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs560839909	chr5:104865940-104865941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35046351	chr5:104865972-104865973	Weak transcription ZNF genes & repeats	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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104856600-104867600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:104865200-104866600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:104873600-104873800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:104873800-104874800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:104874800-104875200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:104874800-104875200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:104874800-104875600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:104875200-104879800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:104875600-104880000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:104879800-104880200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:104879800-104880400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:104880000-104880400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:104884600-104886200	Weak transcription	Aorta	Aorta
14	chr5:104886400-104887000	Enhancers	Colon Smooth Muscle	Colon
15	chr5:104889000-104890600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:104890000-104890600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:104890200-104890600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:104891000-104899400	Weak transcription	Aorta	Aorta
19	chr5:104897600-104898200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr5:104898200-104898600	Enhancers	Fetal Lung	lung
21	chr5:104899400-104899600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:104899400-104899600	ZNF genes & repeats	Aorta	Aorta
23	chr5:104899400-104899800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:104917600-104918000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:104918000-104918400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:104918000-104918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:104923800-104924200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:104928800-104929000	Enhancers	K562	blood
29	chr5:104929000-104929400	Flanking Active TSS	K562	blood
30	chr5:104929400-104930200	Enhancers	K562	blood
31	chr5:104952400-104954400	Enhancers	Fetal Lung	lung
32	chr5:104966400-104967000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:104974000-104974400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:104974000-104974600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:104974000-104974600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:104974000-104975200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:104974000-104975400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:104974200-104975000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:104974800-104975000	ZNF genes & repeats	Pancreas	Pancrea
40	chr5:104974800-104975200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:104974800-104975200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:104974800-104975200	Enhancers	Placenta	Placenta
43	chr5:104975200-104977200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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