Variant report

Variant	nsv883004
Chromosome Location	chr5:144945649-145068001
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:145060866..145061444-chr5:145428300..145429641,3	K562	blood:
2	chr5:145059333..145062301-chr5:145065267..145067260,2	K562	blood:
3	chr5:144970085..144971790-chr5:144972194..144974954,2	MCF-7	breast:
4	chr5:144943596..144945389-chr5:144978241..144980078,2	K562	blood:
5	chr5:145061483..145063897-chr5:145191937..145194920,2	MCF-7	breast:
6	chr5:145060908..145061744-chr5:145098314..145099122,3	MCF-7	breast:
7	chr5:145050661..145052911-chr5:145067099..145069500,2	K562	blood:
8	chr5:144807323..144808240-chr5:145008450..145009354,3	MCF-7	breast:
9	chr5:145038332..145039901-chr5:145043658..145046555,2	K562	blood:
10	chr5:145044200..145046094-chr5:145049735..145052306,2	K562	blood:
11	chr5:145061166..145061878-chr5:145204948..145205851,2	MCF-7	breast:
12	chr5:145059333..145062301-chr5:145065267..145067260,2	K562	blood:
13	chr5:145044200..145046094-chr5:145049735..145052306,2	K562	blood:
14	chr5:145060935..145061849-chr5:145191865..145192523,3	MCF-7	breast:
15	chr5:144949301..144952080-chr5:144960488..144962543,2	K562	blood:
16	chr5:144949301..144952080-chr5:144960488..144962543,2	K562	blood:
17	chr5:144807323..144807909-chr5:145008450..145009166,2	MCF-7	breast:
18	chr5:142355674..142357235-chr5:145059140..145061602,2	K562	blood:
19	chr5:145038332..145039901-chr5:145043658..145046555,2	K562	blood:
20	chr5:144970085..144971790-chr5:144972194..144974954,2	MCF-7	breast:
21	chr5:145060890..145061796-chr5:145204861..145205861,3	K562	blood:
22	chr5:145060921..145061488-chr5:145428869..145429432,2	MCF-7	breast:
23	chr5:145050661..145052911-chr5:145067099..145069500,2	K562	blood:
24	chr5:145060959..145061470-chr5:145205043..145205644,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156463	chromatin interactions

Extended variants
information (count: 3751 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3751 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17103398	chr5:144945649-144945650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79202336	chr5:144945660-144945661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28377159	chr5:144945682-144945683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75339532	chr5:144945718-144945719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28490156	chr5:144945736-144945737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545049947	chr5:144945738-144945739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138696014	chr5:144945885-144945886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377700814	chr5:144945899-144945900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376294866	chr5:144945900-144945901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs868774	chr5:144946014-144946015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115896228	chr5:144946090-144946091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546165578	chr5:144946121-144946122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148930785	chr5:144946122-144946123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533708633	chr5:144946124-144946125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547166583	chr5:144946127-144946128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528734117	chr5:144946151-144946152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62392709	chr5:144946190-144946191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568354912	chr5:144946292-144946293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148271680	chr5:144946334-144946335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183094748	chr5:144946335-144946336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537384269	chr5:144946403-144946404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570196417	chr5:144946443-144946444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529345819	chr5:144946452-144946453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545477288	chr5:144946517-144946518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549222700	chr5:144946518-144946519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569041258	chr5:144946533-144946534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552906079	chr5:144946550-144946551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566657549	chr5:144946567-144946568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530845296	chr5:144946574-144946575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535701360	chr5:144946608-144946609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537836143	chr5:144946615-144946616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79018347	chr5:144946628-144946629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187053595	chr5:144946691-144946692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568307565	chr5:144946703-144946704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141891298	chr5:144946740-144946741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557526646	chr5:144946754-144946755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11740880	chr5:144946759-144946760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146238020	chr5:144946807-144946808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371683737	chr5:144946823-144946824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190683608	chr5:144946827-144946828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528463614	chr5:144946831-144946832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373786888	chr5:144946906-144946907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs70998025	chr5:144946907-144946908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143274245	chr5:144946910-144946911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11957251	chr5:144946914-144946915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs397999512	chr5:144946957-144946958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201155329	chr5:144946958-144946959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199606995	chr5:144946960-144946961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200263259	chr5:144946961-144946962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201350712	chr5:144946962-144946963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:144924000-144949000	Weak transcription	Aorta	Aorta
2	chr5:144943200-144947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:144947600-144948000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:144949000-144949600	Enhancers	Aorta	Aorta
5	chr5:144952600-144956400	Weak transcription	Psoas Muscle	Psoas
6	chr5:144953200-144957200	Weak transcription	Ovary	ovary
7	chr5:144954400-144954600	Enhancers	NH-A	brain
8	chr5:144954400-144955000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:144955200-144955400	Enhancers	NH-A	brain
10	chr5:144955400-144955600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:144955800-144956000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:144957600-144958400	Enhancers	Duodenum Mucosa	Duodenum
13	chr5:144958400-144958800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:144958800-144960200	Enhancers	Duodenum Mucosa	Duodenum
15	chr5:144959200-144960200	Enhancers	Fetal Intestine Large	intestine
16	chr5:144959400-144960200	Enhancers	Fetal Intestine Small	intestine
17	chr5:144959600-144960200	Enhancers	Fetal Kidney	kidney
18	chr5:144960200-144965200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:144960200-144965200	Weak transcription	Fetal Intestine Large	intestine
20	chr5:144960200-144965200	Weak transcription	Fetal Intestine Small	intestine
21	chr5:144964200-144967400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:144965200-144965600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr5:144965200-144966800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr5:144965200-144967000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:144965200-144967600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:144965200-144967600	Enhancers	Duodenum Mucosa	Duodenum
27	chr5:144965200-144968000	Enhancers	Fetal Intestine Large	intestine
28	chr5:144965200-144968000	Enhancers	Fetal Intestine Small	intestine
29	chr5:144965400-144965800	Enhancers	Small Intestine	intestine
30	chr5:144965600-144966600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:144965600-144967000	Enhancers	A549	lung
32	chr5:144965600-144967400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:144965800-144967600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:144966000-144966800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr5:144966200-144966800	Enhancers	Stomach Mucosa	stomach
36	chr5:144966400-144968400	Enhancers	Osteobl	bone
37	chr5:144966600-144967400	Enhancers	Hela-S3	cervix
38	chr5:144966600-144968000	Enhancers	NH-A	brain
39	chr5:144966600-144968400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:144966600-144968400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr5:144966600-144968400	Enhancers	NHDF-Ad	bronchial
42	chr5:144966800-144968000	Enhancers	NHLF	lung
43	chr5:144966800-144968400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:144966800-144968400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr5:144967000-144967600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:144967000-144967600	Flanking Active TSS	A549	lung
47	chr5:144967000-144967600	Enhancers	HUVEC	blood vessel
48	chr5:144967000-144968000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:144967000-144968000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:144967000-144968000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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