Variant report

Variant	nsv820142
Chromosome Location	chr5:40847391-40852348
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40847291..40849626-chr5:40854457..40858364,3	K562	blood:
2	chr5:40843666..40846372-chr5:40846627..40850268,4	K562	blood:
3	chr5:40798425..40801370-chr5:40851510..40853477,2	K562	blood:
4	chr5:40835001..40837532-chr5:40844954..40847545,3	MCF-7	breast:
5	chr5:40827337..40829138-chr5:40847106..40849320,2	MCF-7	breast:
6	chr5:40834549..40837244-chr5:40846032..40850284,6	MCF-7	breast:
7	chr5:40832678..40834651-chr5:40851287..40853714,2	K562	blood:
8	chr5:40835369..40837107-chr5:40851316..40853439,2	MCF-7	breast:
9	chr5:40833178..40835128-chr5:40848248..40850969,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212296	chromatin interactions
ENSG00000132356	chromatin interactions
ENSG00000145592	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369331	chr5:40847428-40847429	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370520282	chr5:40847457-40847458	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554124160	chr5:40847517-40847518	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142507288	chr5:40847522-40847523	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539613879	chr5:40847538-40847539	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181742189	chr5:40847570-40847571	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576737333	chr5:40847572-40847573	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114851093	chr5:40847643-40847644	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190307506	chr5:40847677-40847678	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573635886	chr5:40847693-40847694	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576209920	chr5:40847696-40847697	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150944385	chr5:40847707-40847708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533271504	chr5:40847724-40847725	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7718707	chr5:40847737-40847738	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181167628	chr5:40847766-40847767	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144708876	chr5:40847768-40847769	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs367826849	chr5:40847839-40847840	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185427315	chr5:40847855-40847856	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189782258	chr5:40847886-40847887	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370428415	chr5:40847888-40847889	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142058227	chr5:40848014-40848015	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76055981	chr5:40848016-40848017	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs199768840	chr5:40848018-40848019	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs397721838	chr5:40848019-40848020	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115572384	chr5:40848021-40848022	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568110857	chr5:40848043-40848044	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547787543	chr5:40848078-40848079	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184205079	chr5:40848163-40848164	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200993412	chr5:40848312-40848313	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564990159	chr5:40848313-40848314	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79742376	chr5:40848328-40848329	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74541357	chr5:40848330-40848331	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs138643817	chr5:40848375-40848376	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs116762589	chr5:40848411-40848412	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565028739	chr5:40848469-40848470	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372789197	chr5:40848470-40848471	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537649419	chr5:40848477-40848478	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555451577	chr5:40848503-40848504	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187171779	chr5:40848523-40848524	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11952181	chr5:40848528-40848529	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs118097071	chr5:40848573-40848574	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192097478	chr5:40848618-40848619	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs13159739	chr5:40848625-40848626	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs13177439	chr5:40848631-40848632	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs323566	chr5:40848649-40848650	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs140353469	chr5:40848674-40848675	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113964813	chr5:40848679-40848680	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563251852	chr5:40848692-40848693	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561040698	chr5:40848693-40848694	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs116621284	chr5:40848704-40848705	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	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	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	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
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40836000-40852600	Weak transcription	Small Intestine	intestine
2	chr5:40841400-40852000	Weak transcription	Pancreas	Pancrea
3	chr5:40841800-40852400	Weak transcription	Esophagus	oesophagus
4	chr5:40842200-40852200	Weak transcription	Left Ventricle	heart
5	chr5:40842200-40852600	Weak transcription	Placenta	Placenta
6	chr5:40842200-40853800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:40842400-40852000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:40842400-40852400	Weak transcription	Liver	Liver
9	chr5:40842400-40852400	Weak transcription	Ovary	ovary
10	chr5:40842400-40852600	Weak transcription	Primary T cells from cord blood	blood
11	chr5:40842400-40853400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:40842400-40853800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:40842400-40854200	Weak transcription	Fetal Stomach	stomach
14	chr5:40842400-40854600	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:40842600-40847600	Weak transcription	HMEC	breast
16	chr5:40842800-40849000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:40842800-40849200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:40842800-40852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:40842800-40853200	Weak transcription	Fetal Intestine Small	intestine
20	chr5:40842800-40854000	Weak transcription	Aorta	Aorta
21	chr5:40842800-40856000	Weak transcription	Right Ventricle	heart
22	chr5:40843000-40849000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:40843200-40852200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:40843400-40848800	Weak transcription	Primary B cells from cord blood	blood
25	chr5:40843400-40851800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:40843400-40852400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:40843600-40854000	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:40843600-40857800	Weak transcription	Osteobl	bone
29	chr5:40843800-40852000	Weak transcription	Adipose Nuclei	Adipose
30	chr5:40843800-40852000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:40844000-40852200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:40844000-40852400	Weak transcription	Hela-S3	cervix
33	chr5:40845400-40851400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:40845400-40852400	Weak transcription	Gastric	stomach
35	chr5:40845600-40847400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:40846600-40847400	Genic enhancers	Primary monocytes fromperipheralblood	blood
37	chr5:40846800-40849400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr5:40846800-40851800	Weak transcription	Lung	lung
39	chr5:40846800-40852000	Weak transcription	Spleen	Spleen
40	chr5:40846800-40852400	Weak transcription	HUVEC	blood vessel
41	chr5:40847000-40847800	Enhancers	Stomach Mucosa	stomach
42	chr5:40847000-40849000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr5:40847200-40849200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:40847400-40849000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr5:40847400-40849400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:40848800-40849800	Enhancers	Primary B cells from cord blood	blood
47	chr5:40849000-40849800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr5:40849000-40849800	Genic enhancers	Monocytes-CD14+_RO01746	blood
49	chr5:40849000-40850000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr5:40849000-40850000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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