Variant report

Variant	nsv934038
Chromosome Location	chr5:7891340-7891602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:7890418-7891875	K562	blood:	n/a	n/a
2	POLR2A	chr5:7891550-7891884	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
MTRR	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182090049	chr5:7891343-7891344	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs554873045	chr5:7891354-7891355	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574081940	chr5:7891372-7891373	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs147910094	chr5:7891373-7891374	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376056425	chr5:7891376-7891377	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs62342551	chr5:7891401-7891402	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533953080	chr5:7891403-7891404	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs377484069	chr5:7891442-7891443	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377333185	chr5:7891466-7891467	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs16879334	chr5:7891506-7891507	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs137853062	chr5:7891518-7891519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370978510	chr5:7891519-7891520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556777917	chr5:7891543-7891544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374485961	chr5:7891545-7891546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113005255	chr5:7891546-7891547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375216112	chr5:7891570-7891571	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs374603856	chr5:7891573-7891574	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200969090	chr5:7891576-7891577	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs3214449	chr5:7891577-7891578	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs374409494	chr5:7891579-7891580	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs397839959	chr5:7891582-7891583	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs370212700	chr5:7891593-7891594	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs79735541	chr5:7891596-7891597	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573100913	chr5:7891601-7891602	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
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
T-cell prolymphocytic leukemia	17713554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7870200-7903400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:7871000-7894000	Weak transcription	Fetal Heart	heart
3	chr5:7871200-7903400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:7871200-7903600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:7871200-7903800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:7871400-7902400	Strong transcription	K562	blood
7	chr5:7871400-7903800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:7871600-7902800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:7871600-7905000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:7871600-7906400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:7871600-7906800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:7871800-7907400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:7872000-7895200	Strong transcription	Fetal Muscle Leg	muscle
14	chr5:7873200-7903400	Strong transcription	Dnd41	blood
15	chr5:7873400-7904000	Strong transcription	Hela-S3	cervix
16	chr5:7874000-7905400	Strong transcription	Primary T cells from cord blood	blood
17	chr5:7874000-7909200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:7874600-7894400	Strong transcription	Adipose Nuclei	Adipose
19	chr5:7875000-7906600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:7875400-7895200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr5:7875400-7903600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:7875400-7903800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr5:7875400-7904200	Strong transcription	Primary hematopoietic stem cells	blood
24	chr5:7875400-7904400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr5:7875600-7904400	Strong transcription	Left Ventricle	heart
26	chr5:7878600-7911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:7879200-7901800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:7879200-7906400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:7879600-7900600	Strong transcription	Primary B cells from cord blood	blood
30	chr5:7880000-7894400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:7880000-7903600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:7880200-7892000	Strong transcription	GM12878-XiMat	blood
33	chr5:7880200-7894200	Weak transcription	Stomach Mucosa	stomach
34	chr5:7880400-7906600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:7880600-7907000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr5:7880800-7903800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr5:7881000-7904400	Strong transcription	Fetal Intestine Large	intestine
38	chr5:7882200-7902200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:7882400-7898600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:7882400-7905000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:7882600-7898600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:7883800-7894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:7885200-7895200	Strong transcription	NHEK	skin
44	chr5:7885400-7904000	Strong transcription	A549	lung
45	chr5:7885400-7904800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:7886200-7893000	Weak transcription	Brain Germinal Matrix	brain
47	chr5:7886800-7894400	Weak transcription	Pancreas	Pancrea
48	chr5:7887200-7891600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:7887200-7892800	Weak transcription	Fetal Lung	lung
50	chr5:7887200-7893600	Weak transcription	Fetal Brain Male	brain

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