Variant report

Variant	esv3490151
Chromosome Location	chr8:69097248-69099346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69098713..69101152-chr8:69102795..69104441,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368704200	chr8:69097253-69097254	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs543456551	chr8:69097273-69097274	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187266110	chr8:69097282-69097283	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs577224799	chr8:69097300-69097301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545982447	chr8:69097301-69097302	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs573472488	chr8:69097320-69097321	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565062642	chr8:69097327-69097328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs13282983	chr8:69097361-69097362	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547697585	chr8:69097376-69097377	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561214135	chr8:69097387-69097388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs191771340	chr8:69097393-69097394	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs147928812	chr8:69097414-69097415	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569554380	chr8:69097502-69097503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538702120	chr8:69097506-69097507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200314255	chr8:69097521-69097522	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs141778800	chr8:69097540-69097541	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs371597088	chr8:69097558-69097559	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs566249890	chr8:69097565-69097566	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534918290	chr8:69097568-69097569	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150478021	chr8:69097654-69097655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574831765	chr8:69097683-69097684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376466012	chr8:69097697-69097698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183909540	chr8:69097698-69097699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562783239	chr8:69097701-69097702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577190128	chr8:69097750-69097751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533100942	chr8:69097767-69097768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546244526	chr8:69097781-69097782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553224042	chr8:69097785-69097786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551747958	chr8:69097794-69097795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188298612	chr8:69097799-69097800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572246100	chr8:69097812-69097813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541269865	chr8:69097825-69097826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560248660	chr8:69097844-69097845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527692572	chr8:69097866-69097867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146964923	chr8:69097901-69097902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549473941	chr8:69097969-69097970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567780051	chr8:69098057-69098058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374007671	chr8:69098071-69098072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543762616	chr8:69098079-69098080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369665301	chr8:69098120-69098121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563263431	chr8:69098138-69098139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532048070	chr8:69098203-69098204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35058212	chr8:69098249-69098250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13275280	chr8:69098264-69098265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565686305	chr8:69098306-69098307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550136856	chr8:69098328-69098329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115238389	chr8:69098329-69098330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367720289	chr8:69098337-69098338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180815226	chr8:69098340-69098341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184252634	chr8:69098419-69098420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
2	chr8:69052600-69104600	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:69075000-69130800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:69075200-69109200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:69075200-69113800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:69076400-69104000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:69076400-69104200	Weak transcription	Adipose Nuclei	Adipose
8	chr8:69078400-69104400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:69078400-69113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:69086000-69141600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:69087800-69108800	Weak transcription	Left Ventricle	heart
12	chr8:69090200-69100000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:69090400-69126800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:69090600-69100000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:69090600-69104400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:69092800-69115200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:69096000-69104400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:69096000-69114400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:69096400-69097800	Enhancers	HUVEC	blood vessel
20	chr8:69096800-69098000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:69097000-69104600	Weak transcription	Brain Anterior Caudate	brain
22	chr8:69097200-69097400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:69097200-69097600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:69097200-69097600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:69097200-69097800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:69097400-69104800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:69097600-69097800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:69097600-69104400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:69097800-69104600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:69097800-69110600	Weak transcription	HUVEC	blood vessel
31	chr8:69097800-69115000	Weak transcription	Fetal Stomach	stomach
32	chr8:69098000-69107600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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