Variant report

Variant	nsv1027023
Chromosome Location	chr5:42610250-42654999
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:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:42642428..42645184-chr5:42653462..42655294,2	K562	blood:
2	chr5:42652279..42654672-chr5:42655371..42657991,3	K562	blood:
3	chr5:42631158..42633602-chr5:42634414..42636880,2	K562	blood:
4	chr5:42631494..42633015-chr5:42639897..42641868,2	K562	blood:
5	chr5:41924043..41926893-chr5:42611751..42613531,2	MCF-7	breast:
6	chr5:42600348..42602106-chr5:42626580..42628400,2	K562	blood:
7	chr5:42626104..42628276-chr5:42639236..42641791,2	MCF-7	breast:
8	chr5:42606726..42608247-chr5:42612440..42614647,2	K562	blood:
9	chr5:42615586..42618149-chr5:42620212..42621821,2	K562	blood:
10	chr5:42643852..42646309-chr5:42650838..42653598,2	K562	blood:
11	chr5:42631158..42633602-chr5:42634414..42636880,2	K562	blood:
12	chr5:42649529..42651492-chr5:42652082..42654194,2	K562	blood:
13	chr5:42633457..42635386-chr5:42636823..42639226,2	MCF-7	breast:
14	chr5:42649529..42651492-chr5:42652082..42654194,2	K562	blood:
15	chr5:42643852..42646309-chr5:42650838..42653598,2	K562	blood:
16	chr5:42633457..42635386-chr5:42636823..42639226,2	MCF-7	breast:
17	chr5:42649529..42651140-chr5:42652694..42654237,2	K562	blood:
18	chr5:42649529..42651140-chr5:42652694..42654237,2	K562	blood:
19	chr5:42631954..42633602-chr5:42635380..42637897,2	K562	blood:
20	chr5:42626104..42628276-chr5:42639236..42641791,2	MCF-7	breast:
21	chr5:42631494..42633015-chr5:42639897..42641868,2	K562	blood:
22	chr5:42228076..42228879-chr5:42636463..42637129,2	MCF-7	breast:
23	chr5:42638957..42641022-chr5:42643162..42645548,2	K562	blood:
24	chr5:42491642..42494093-chr5:42621929..42623972,2	MCF-7	breast:
25	chr5:42642428..42645184-chr5:42653462..42655294,2	K562	blood:
26	chr5:42631954..42633602-chr5:42635380..42637897,2	K562	blood:
27	chr5:42615586..42618149-chr5:42620212..42621821,2	K562	blood:
28	chr5:42583094..42584059-chr5:42636345..42636869,2	K562	blood:
29	chr5:42638957..42641022-chr5:42643162..42645548,2	K562	blood:
30	chr5:42652873..42654672-chr5:42656285..42657991,2	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
ENSG00000151876	chromatin interactions

Extended variants
information (count: 1595 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1595 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146426999	chr5:42610268-42610269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374389585	chr5:42610271-42610272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191929022	chr5:42610323-42610324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115000570	chr5:42610327-42610328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531471111	chr5:42610337-42610338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549687845	chr5:42610345-42610346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568118010	chr5:42610346-42610347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13354167	chr5:42610409-42610410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371683180	chr5:42610525-42610526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547171929	chr5:42610545-42610546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139139749	chr5:42610573-42610574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539422783	chr5:42610618-42610619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140520994	chr5:42610633-42610634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576128106	chr5:42610674-42610675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538493093	chr5:42610728-42610729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150432294	chr5:42610735-42610736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78209149	chr5:42610767-42610768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376012670	chr5:42610768-42610769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556904183	chr5:42610769-42610770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376588503	chr5:42610821-42610822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138247980	chr5:42610830-42610831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542457605	chr5:42610831-42610832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572502776	chr5:42610842-42610843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184441420	chr5:42610856-42610857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188944339	chr5:42610928-42610929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149621130	chr5:42610963-42610964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564114752	chr5:42610965-42610966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536573476	chr5:42611066-42611067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376137369	chr5:42611156-42611157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146147578	chr5:42611210-42611211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80302840	chr5:42611213-42611214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181675099	chr5:42611230-42611231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4305645	chr5:42611249-42611250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139029878	chr5:42611276-42611277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539512509	chr5:42611303-42611304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185513967	chr5:42611359-42611360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569628533	chr5:42611365-42611366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537083736	chr5:42611409-42611410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150655321	chr5:42611421-42611422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373363580	chr5:42611442-42611443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76279189	chr5:42611444-42611445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535657099	chr5:42611484-42611485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72754950	chr5:42611524-42611525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs180858357	chr5:42611545-42611546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114808940	chr5:42611557-42611558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545848448	chr5:42611562-42611563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557841388	chr5:42611591-42611592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186141946	chr5:42611603-42611604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375485680	chr5:42611628-42611629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142345992	chr5:42611656-42611657	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:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42592000-42614400	Weak transcription	Aorta	Aorta
2	chr5:42601200-42612800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:42606800-42610400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:42606800-42613200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:42607000-42621000	Weak transcription	Left Ventricle	heart
6	chr5:42609200-42611200	Enhancers	Psoas Muscle	Psoas
7	chr5:42609200-42611800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr5:42609200-42613600	Enhancers	Liver	Liver
9	chr5:42610200-42620600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:42610400-42611000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr5:42610800-42626800	Weak transcription	Pancreas	Pancrea
12	chr5:42611000-42612400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:42611200-42612800	Weak transcription	Psoas Muscle	Psoas
14	chr5:42611800-42616200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:42612200-42613400	Enhancers	Colon Smooth Muscle	Colon
16	chr5:42612200-42615200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:42612400-42613000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:42612400-42614000	Enhancers	Fetal Lung	lung
19	chr5:42612400-42615600	Enhancers	NHLF	lung
20	chr5:42612600-42612800	Weak transcription	Adipose Nuclei	Adipose
21	chr5:42612800-42613600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:42612800-42613600	Enhancers	HMEC	breast
23	chr5:42612800-42613600	Enhancers	HSMM	muscle
24	chr5:42612800-42614200	Enhancers	Adipose Nuclei	Adipose
25	chr5:42612800-42614200	Enhancers	Psoas Muscle	Psoas
26	chr5:42612800-42614800	Enhancers	NHDF-Ad	bronchial
27	chr5:42612800-42615200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:42612800-42615200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:42612800-42615200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr5:42612800-42615200	Enhancers	Ovary	ovary
31	chr5:42612800-42615200	Enhancers	Osteobl	bone
32	chr5:42612800-42615400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:42612800-42616800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:42613000-42613200	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:42613000-42614600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:42613000-42615000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:42613200-42613600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:42613200-42615200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:42613400-42613600	Enhancers	HSMMtube	muscle
40	chr5:42613400-42614800	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:42613600-42614400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:42613600-42614800	Weak transcription	HSMM	muscle
43	chr5:42613600-42615400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:42613600-42616200	Weak transcription	Liver	Liver
45	chr5:42613600-42620000	Weak transcription	HMEC	breast
46	chr5:42613800-42614200	Enhancers	Right Ventricle	heart
47	chr5:42614000-42620800	Weak transcription	Fetal Lung	lung
48	chr5:42614200-42614600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr5:42614200-42614800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:42614200-42615400	Enhancers	Cortex derived primary cultured neurospheres	brain

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