Variant report

Variant	esv3443907
Chromosome Location	chr8:43023007-43023575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185496856	chr8:43023007-43023008	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547349455	chr8:43023039-43023040	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71231896	chr8:43023067-43023068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368632006	chr8:43023068-43023069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs398007641	chr8:43023079-43023080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570489979	chr8:43023116-43023117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190749071	chr8:43023122-43023123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570196691	chr8:43023131-43023132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539012975	chr8:43023150-43023151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552649986	chr8:43023182-43023183	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149825946	chr8:43023232-43023233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549440327	chr8:43023245-43023246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369606613	chr8:43023263-43023264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569520804	chr8:43023304-43023305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537284161	chr8:43023319-43023320	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535258721	chr8:43023351-43023352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576579655	chr8:43023354-43023355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372815206	chr8:43023358-43023359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545386376	chr8:43023391-43023392	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114651020	chr8:43023392-43023393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573006480	chr8:43023416-43023417	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9657192	chr8:43023447-43023448	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181516810	chr8:43023466-43023467	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530714573	chr8:43023515-43023516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13279897	chr8:43023522-43023523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34270087	chr8:43023527-43023528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71231897	chr8:43023552-43023553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186159302	chr8:43023565-43023566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21045282	CNVD
Lung cancer	17925434	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42996800-43025600	Weak transcription	Spleen	Spleen
2	chr8:42996800-43025800	Weak transcription	Small Intestine	intestine
3	chr8:42997200-43025000	Weak transcription	Colonic Mucosa	Colon
4	chr8:42997200-43025800	Weak transcription	Psoas Muscle	Psoas
5	chr8:42997600-43025400	Weak transcription	Fetal Thymus	thymus
6	chr8:42997600-43031000	Weak transcription	Stomach Mucosa	stomach
7	chr8:42998200-43024400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:43009000-43048400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:43009000-43052000	Weak transcription	Fetal Heart	heart
10	chr8:43012200-43030000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:43013000-43026200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:43013000-43033600	Strong transcription	Stomach Smooth Muscle	stomach
13	chr8:43013200-43029200	Strong transcription	Fetal Stomach	stomach
14	chr8:43013400-43033800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr8:43013600-43030200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:43013600-43030200	Strong transcription	Fetal Brain Female	brain
17	chr8:43013600-43030600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:43013600-43030800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:43013600-43033800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:43013600-43033800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:43013600-43033800	Strong transcription	Fetal Intestine Large	intestine
22	chr8:43013800-43027800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:43013800-43029400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:43013800-43031200	Strong transcription	Liver	Liver
25	chr8:43014400-43046600	Weak transcription	HepG2	liver
26	chr8:43015000-43031400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr8:43016400-43031200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:43017200-43023800	Weak transcription	Brain Angular Gyrus	brain
29	chr8:43017200-43024600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:43017200-43025000	Weak transcription	Thymus	Thymus
31	chr8:43017200-43026000	Weak transcription	HUVEC	blood vessel
32	chr8:43017400-43024400	Weak transcription	Esophagus	oesophagus
33	chr8:43017600-43024800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:43017600-43025600	Weak transcription	HMEC	breast
35	chr8:43018200-43024400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:43018400-43023200	Weak transcription	Right Ventricle	heart
37	chr8:43018400-43024400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:43018400-43028800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:43018600-43025400	Weak transcription	Gastric	stomach
40	chr8:43018600-43025600	Weak transcription	NHLF	lung
41	chr8:43019400-43024400	Weak transcription	HSMM	muscle
42	chr8:43019600-43024400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:43019600-43024400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:43019600-43024400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:43019600-43024400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:43019600-43024400	Weak transcription	A549	lung
47	chr8:43019600-43045000	Weak transcription	Hela-S3	cervix
48	chr8:43019800-43023200	Weak transcription	Lung	lung
49	chr8:43019800-43024800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:43019800-43024800	Weak transcription	Aorta	Aorta

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