Variant report

Variant	nsv537736
Chromosome Location	chr5:42616487-42696943
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:39)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:42615586..42618149-chr5:42620212..42621821,2	K562	blood:
2	chr5:42631954..42633602-chr5:42635380..42637897,2	K562	blood:
3	chr5:42638957..42641022-chr5:42643162..42645548,2	K562	blood:
4	chr5:42228076..42228879-chr5:42636463..42637129,2	MCF-7	breast:
5	chr5:42631494..42633015-chr5:42639897..42641868,2	K562	blood:
6	chr5:42491642..42494093-chr5:42621929..42623972,2	MCF-7	breast:
7	chr5:42652279..42654672-chr5:42655371..42657991,3	K562	blood:
8	chr5:42626104..42628276-chr5:42639236..42641791,2	MCF-7	breast:
9	chr5:42643852..42646309-chr5:42650838..42653598,2	K562	blood:
10	chr5:42228294..42229001-chr5:42656539..42657726,4	MCF-7	breast:
11	chr5:42631158..42633602-chr5:42634414..42636880,2	K562	blood:
12	chr5:42649529..42651140-chr5:42652694..42654237,2	K562	blood:
13	chr5:42649529..42651492-chr5:42652082..42654194,2	K562	blood:
14	chr5:42423150..42423979-chr5:42656079..42656931,2	MCF-7	breast:
15	chr5:42631954..42633602-chr5:42635380..42637897,2	K562	blood:
16	chr5:42649529..42651492-chr5:42652082..42654194,2	K562	blood:
17	chr5:42626104..42628276-chr5:42639236..42641791,2	MCF-7	breast:
18	chr5:42600348..42602106-chr5:42626580..42628400,2	K562	blood:
19	chr5:42643852..42646309-chr5:42650838..42653598,2	K562	blood:
20	chr5:42652279..42654672-chr5:42655371..42657991,3	K562	blood:
21	chr5:42633457..42635386-chr5:42636823..42639226,2	MCF-7	breast:
22	chr5:42668135..42668954-chr5:42889373..42890051,2	MCF-7	breast:
23	chr5:42652873..42654672-chr5:42656285..42657991,2	K562	blood:
24	chr5:42631158..42633602-chr5:42634414..42636880,2	K562	blood:
25	chr5:42642428..42645184-chr5:42653462..42655294,2	K562	blood:
26	chr5:42633457..42635386-chr5:42636823..42639226,2	MCF-7	breast:
27	chr5:42683652..42685586-chr9:133557490..133559325,2	MCF-7	breast:
28	chr5:42514982..42515546-chr5:42656463..42657052,2	MCF-7	breast:
29	chr5:42642428..42645184-chr5:42653462..42655294,2	K562	blood:
30	chr5:42631494..42633015-chr5:42639897..42641868,2	K562	blood:
31	chr5:42583117..42583623-chr5:42656473..42657357,2	MCF-7	breast:
32	chr5:41856471..41857410-chr5:42656558..42657380,2	MCF-7	breast:
33	chr5:42615586..42618149-chr5:42620212..42621821,2	K562	blood:
34	chr5:42649529..42651140-chr5:42652694..42654237,2	K562	blood:
35	chr5:42583094..42584059-chr5:42636345..42636869,2	K562	blood:
36	chr5:42667298..42668955-chr5:42676983..42678994,2	K562	blood:
37	chr5:42638957..42641022-chr5:42643162..42645548,2	K562	blood:
38	chr5:42652873..42654672-chr5:42656285..42657991,2	K562	blood:
39	chr5:42667298..42668955-chr5:42676983..42678994,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC152-7	chr5:42619754-42619923	NONHSAT101217

No data

Variant related genes	Relation type
ENSG00000112964	chromatin interactions

Extended variants
information (count: 3088 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3088 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184030199	chr5:42616523-42616524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562667323	chr5:42616541-42616542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577520573	chr5:42616547-42616548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111860428	chr5:42616606-42616607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544367896	chr5:42616677-42616678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563043959	chr5:42616693-42616694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373634585	chr5:42616694-42616695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530019836	chr5:42616753-42616754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145233183	chr5:42616757-42616758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62371992	chr5:42616776-42616777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548597027	chr5:42616780-42616781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79527806	chr5:42616781-42616782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398084095	chr5:42616792-42616793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11335818	chr5:42616793-42616794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186511099	chr5:42616813-42616814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9918288	chr5:42616822-42616823	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533701958	chr5:42616844-42616845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369373814	chr5:42616890-42616891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570273713	chr5:42616898-42616899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374189252	chr5:42616956-42616957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538085498	chr5:42617080-42617081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189672322	chr5:42617121-42617122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75360074	chr5:42617149-42617150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535091792	chr5:42617170-42617171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77125022	chr5:42617181-42617182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572071467	chr5:42617185-42617186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182338388	chr5:42617208-42617209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548143601	chr5:42617231-42617232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534451549	chr5:42617251-42617252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147203644	chr5:42617296-42617297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577508234	chr5:42617298-42617299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369161215	chr5:42617308-42617309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544817469	chr5:42617331-42617332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28571068	chr5:42617349-42617350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114282236	chr5:42617406-42617407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79453761	chr5:42617435-42617436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368050764	chr5:42617488-42617489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75768538	chr5:42617490-42617491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4866941	chr5:42617492-42617493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs201963101	chr5:42617494-42617495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200468663	chr5:42617496-42617497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116768783	chr5:42617498-42617499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199599408	chr5:42617500-42617501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56262147	chr5:42617523-42617524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10581858	chr5:42617525-42617526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368042682	chr5:42617526-42617527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187133247	chr5:42617537-42617538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192798483	chr5:42617538-42617539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552045303	chr5:42617603-42617604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs36038266	chr5:42617637-42617638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42607000-42621000	Weak transcription	Left Ventricle	heart
2	chr5:42610200-42620600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:42610800-42626800	Weak transcription	Pancreas	Pancrea
4	chr5:42612800-42616800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:42613600-42620000	Weak transcription	HMEC	breast
6	chr5:42614000-42620800	Weak transcription	Fetal Lung	lung
7	chr5:42614200-42617600	Weak transcription	Psoas Muscle	Psoas
8	chr5:42614200-42619400	Weak transcription	Adipose Nuclei	Adipose
9	chr5:42615000-42618600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:42615200-42616600	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:42615200-42621000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:42615200-42621000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:42615400-42618400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:42615600-42621200	Weak transcription	NHLF	lung
15	chr5:42615600-42626200	Weak transcription	Aorta	Aorta
16	chr5:42615800-42620600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:42616200-42618000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:42616200-42618400	Enhancers	Liver	Liver
19	chr5:42616400-42618400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:42616800-42621400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:42617600-42617800	Enhancers	Primary B cells from peripheral blood	blood
22	chr5:42617600-42618000	Enhancers	Psoas Muscle	Psoas
23	chr5:42618000-42619200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:42618000-42619400	Weak transcription	Psoas Muscle	Psoas
25	chr5:42618000-42619600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr5:42618400-42619200	Weak transcription	Liver	Liver
27	chr5:42618400-42619400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:42618400-42621000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:42619200-42619600	Strong transcription	Liver	Liver
30	chr5:42619200-42620000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:42619400-42620200	Strong transcription	Adipose Nuclei	Adipose
32	chr5:42619400-42620200	Enhancers	Psoas Muscle	Psoas
33	chr5:42619400-42623200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:42619600-42619800	Enhancers	Esophagus	oesophagus
35	chr5:42619600-42620800	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:42619600-42624200	Genic enhancers	Liver	Liver
37	chr5:42619600-42624400	Enhancers	Primary B cells from peripheral blood	blood
38	chr5:42619800-42621200	Weak transcription	Esophagus	oesophagus
39	chr5:42619800-42621600	Enhancers	NHEK	skin
40	chr5:42619800-42621800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:42620000-42620400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:42620000-42621600	Enhancers	HMEC	breast
43	chr5:42620200-42620600	Weak transcription	Adipose Nuclei	Adipose
44	chr5:42620200-42621200	Weak transcription	Psoas Muscle	Psoas
45	chr5:42620200-42621800	Enhancers	Primary B cells from cord blood	blood
46	chr5:42620400-42621000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:42620400-42621200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:42620600-42621200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:42620600-42621200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr5:42620600-42621400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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