Variant report

Variant	nsv882573
Chromosome Location	chr5:104438758-104552304
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104438251..104441149-chr5:104441695..104444269,2	K562	blood:
2	chr5:104512964..104515332-chr5:104570864..104572424,2	K562	blood:
3	chr5:104443161..104444832-chr5:104444978..104447101,2	MCF-7	breast:
4	chr5:104443161..104444832-chr5:104444978..104447101,2	MCF-7	breast:
5	chr5:104438251..104441149-chr5:104441695..104444269,2	K562	blood:
6	chr5:104482838..104485793-chr5:104489379..104492370,3	MCF-7	breast:
7	chr5:104528561..104530726-chr5:104532311..104534213,2	K562	blood:
8	chr5:104545106..104548123-chr5:104549429..104551527,3	K562	blood:
9	chr5:104540117..104542340-chr5:104543485..104546477,2	MCF-7	breast:
10	chr5:104542507..104545042-chr5:104552566..104554250,2	K562	blood:
11	chr5:104528561..104530726-chr5:104532311..104534213,2	K562	blood:
12	chr5:104524711..104526370-chr5:104889242..104892104,2	K562	blood:
13	chr12:23105697..23106553-chr5:104539343..104540254,2	MCF-7	breast:
14	chr5:104551002..104553954-chr5:104571477..104574357,2	MCF-7	breast:
15	chr5:104540117..104542340-chr5:104543485..104546477,2	MCF-7	breast:
16	chr5:104482838..104485793-chr5:104489379..104492370,3	MCF-7	breast:
17	chr5:104545961..104548123-chr5:104549429..104551527,2	K562	blood:
18	chr5:104454743..104457659-chr5:104458109..104460411,2	MCF-7	breast:
19	chr5:104454743..104457659-chr5:104458109..104460411,2	MCF-7	breast:
20	chr5:104545961..104548123-chr5:104549429..104551527,2	K562	blood:
21	chr5:104545106..104548123-chr5:104549429..104551527,3	K562	blood:

No data

Extended variants
information (count: 771 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:771 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556226844	chr5:104446803-104446804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143830934	chr5:104446872-104446873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535404605	chr5:104446882-104446883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371744683	chr5:104446912-104446913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555508532	chr5:104446915-104446916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571997599	chr5:104446925-104446926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370026038	chr5:104446941-104446942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567392954	chr5:104446957-104446958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61471502	chr5:104446971-104446972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564512729	chr5:104447004-104447005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574505957	chr5:104447052-104447053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189647157	chr5:104447069-104447070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142942781	chr5:104447113-104447114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563611369	chr5:104447142-104447143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529260054	chr5:104447188-104447189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75820434	chr5:104447199-104447200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368807976	chr5:104451284-104451285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs6884733	chr5:104451286-104451287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs7447030	chr5:104451289-104451290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs1560203	chr5:104451292-104451293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79699737	chr5:104451295-104451296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531914972	chr5:104451304-104451305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs58178503	chr5:104451326-104451327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548879615	chr5:104451350-104451351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs6884768	chr5:104451356-104451357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs78403009	chr5:104453610-104453611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190857426	chr5:104453682-104453683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556184044	chr5:104453699-104453700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555423282	chr5:104453733-104453734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139197701	chr5:104453747-104453748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112472513	chr5:104453857-104453858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555415882	chr5:104453871-104453872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531661490	chr5:104453952-104453953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1816275	chr5:104453964-104453965	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183929595	chr5:104454011-104454012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571157289	chr5:104454039-104454040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147180474	chr5:104454091-104454092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532179065	chr5:104454103-104454104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547149291	chr5:104454120-104454121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543452637	chr5:104454121-104454122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140529854	chr5:104454139-104454140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529259418	chr5:104454159-104454160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189226940	chr5:104454174-104454175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192306950	chr5:104454263-104454264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184595450	chr5:104454267-104454268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565853054	chr5:104454293-104454294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547609004	chr5:104454372-104454373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113247567	chr5:104454399-104454400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191746817	chr5:104454429-104454430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536323281	chr5:104454444-104454445	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104446800-104447200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:104451200-104451400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:104453600-104455000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:104459600-104460200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:104468200-104468800	Enhancers	Brain Germinal Matrix	brain
6	chr5:104469400-104470600	Enhancers	Liver	Liver
7	chr5:104472600-104473200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:104473200-104474200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:104474200-104474400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:104485600-104486600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:104486000-104486600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:104488800-104489000	Enhancers	Fetal Lung	lung
13	chr5:104489000-104490800	Weak transcription	Fetal Lung	lung
14	chr5:104490800-104491200	ZNF genes & repeats	Fetal Lung	lung
15	chr5:104492600-104492800	ZNF genes & repeats	Aorta	Aorta
16	chr5:104492800-104494200	Weak transcription	Aorta	Aorta
17	chr5:104494000-104495600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:104503600-104504400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:104503800-104504400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:104503800-104504600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:104503800-104504600	Enhancers	Hela-S3	cervix
22	chr5:104504400-104505400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:104505800-104506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:104512000-104512400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr5:104541800-104542600	Enhancers	Brain Germinal Matrix	brain
26	chr5:104550000-104550400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:104550200-104550600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:104550200-104550600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:104550200-104550600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:104550200-104550800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:104550400-104550600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:104550600-104552600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:104550800-104554800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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