Variant report

Variant	nsv823062
Chromosome Location	chr5:43529365-43530255
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	chr5:43515775..43517317-chr5:43528629..43530666,2	MCF-7	breast:
2	chr5:43527365..43529512-chr5:43530585..43533160,3	MCF-7	breast:
3	chr5:43524169..43526284-chr5:43529036..43531256,3	K562	blood:
4	chr5:43524064..43525669-chr5:43529470..43531232,2	K562	blood:
5	chr5:43529158..43531590-chr5:43533349..43536059,2	MCF-7	breast:
6	chr5:43121477..43123542-chr5:43528302..43530920,2	MCF-7	breast:
7	chr5:43528692..43531315-chr5:43553476..43557686,3	MCF-7	breast:
8	chr5:43528925..43530823-chr5:43555438..43557032,2	MCF-7	breast:
9	chr5:43485676..43488495-chr5:43528382..43530215,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172262	chromatin interactions
ENSG00000172239	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187108677	chr5:43529379-43529380	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs548153168	chr5:43529397-43529398	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576698382	chr5:43529419-43529420	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs542519762	chr5:43529433-43529434	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560889278	chr5:43529450-43529451	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529678610	chr5:43529475-43529476	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540338202	chr5:43529482-43529483	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs143733758	chr5:43529512-43529513	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559943962	chr5:43529568-43529569	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs550613197	chr5:43529574-43529575	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs6886597	chr5:43529596-43529597	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562684011	chr5:43529695-43529696	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531525281	chr5:43529700-43529701	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs548048135	chr5:43529786-43529787	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149917078	chr5:43529821-43529822	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs372053759	chr5:43529868-43529869	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs79500717	chr5:43529873-43529874	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377246841	chr5:43529874-43529875	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs149920694	chr5:43529889-43529890	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369553234	chr5:43529902-43529903	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547385153	chr5:43529928-43529929	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201206710	chr5:43529974-43529975	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs6866325	chr5:43530035-43530036	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs556508447	chr5:43530050-43530051	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs144942123	chr5:43530094-43530095	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs376136311	chr5:43530102-43530103	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs192274710	chr5:43530124-43530125	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536170357	chr5:43530128-43530129	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556053520	chr5:43530140-43530141	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs574486961	chr5:43530159-43530160	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184427996	chr5:43530172-43530173	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560082116	chr5:43530193-43530194	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576896158	chr5:43530229-43530230	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43515600-43533800	Weak transcription	Small Intestine	intestine
2	chr5:43515600-43534000	Weak transcription	Esophagus	oesophagus
3	chr5:43516000-43529400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:43516000-43533800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:43516000-43534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:43516200-43532800	Weak transcription	Fetal Heart	heart
7	chr5:43516200-43533600	Weak transcription	Brain Substantia Nigra	brain
8	chr5:43516200-43534200	Weak transcription	Stomach Mucosa	stomach
9	chr5:43516400-43534000	Weak transcription	Pancreas	Pancrea
10	chr5:43520600-43529400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:43522200-43534000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:43523200-43550600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:43523200-43551600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:43523200-43551800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:43523200-43552200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:43523400-43551000	Strong transcription	Liver	Liver
17	chr5:43523400-43553600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:43523600-43551000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:43524000-43540200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:43524200-43539600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:43524200-43553600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:43524600-43530200	Weak transcription	Psoas Muscle	Psoas
26	chr5:43524600-43533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:43524800-43529400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:43524800-43529400	Weak transcription	Fetal Stomach	stomach
29	chr5:43524800-43553600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:43525000-43531400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr5:43525000-43552400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:43525200-43548600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr5:43525400-43553400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:43525600-43541800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:43525800-43530200	Weak transcription	Brain Germinal Matrix	brain
36	chr5:43526000-43529400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:43526000-43529600	Weak transcription	Ovary	ovary
38	chr5:43526000-43529800	Weak transcription	Primary T cells from cord blood	blood
39	chr5:43526000-43530000	Weak transcription	Lung	lung
40	chr5:43526000-43530200	Weak transcription	Fetal Brain Female	brain
41	chr5:43526000-43530400	Weak transcription	Thymus	Thymus
42	chr5:43526000-43533200	Weak transcription	Spleen	Spleen
43	chr5:43526000-43533800	Weak transcription	Right Ventricle	heart
44	chr5:43526000-43534000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:43526000-43534000	Weak transcription	Aorta	Aorta
46	chr5:43526000-43534000	Weak transcription	Gastric	stomach
47	chr5:43526000-43553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:43526000-43554200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:43526200-43530000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:43526200-43533600	Weak transcription	Brain Angular Gyrus	brain

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