Variant report

Variant	esv2592138
Chromosome Location	chr8:60442219-60443666
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	chr8:60432149..60433929-chr8:60440083..60443026,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535510323	chr8:60442371-60442372	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs555755351	chr8:60442425-60442426	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9692652	chr8:60442432-60442433	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11777901	chr8:60442460-60442461	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs141730577	chr8:60442517-60442518	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561456408	chr8:60442524-60442525	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191718001	chr8:60442581-60442582	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550355062	chr8:60442716-60442717	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200992794	chr8:60442729-60442730	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532875333	chr8:60442730-60442731	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551129190	chr8:60442741-60442742	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111651604	chr8:60442762-60442763	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533767425	chr8:60442810-60442811	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549245505	chr8:60442877-60442878	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183333968	chr8:60442915-60442916	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538192297	chr8:60442941-60442942	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556291120	chr8:60442989-60442990	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557982881	chr8:60443019-60443020	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541856091	chr8:60443094-60443095	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568802828	chr8:60443095-60443096	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16924952	chr8:60443098-60443099	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16924953	chr8:60443099-60443100	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376141313	chr8:60443206-60443207	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543753602	chr8:60443221-60443222	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs370949242	chr8:60443279-60443280	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572659213	chr8:60443306-60443307	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs371641544	chr8:60443343-60443344	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548838382	chr8:60443437-60443438	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542890075	chr8:60443459-60443460	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs1519066	chr8:60443509-60443510	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs368361793	chr8:60443562-60443563	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544156784	chr8:60443582-60443583	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562162335	chr8:60443636-60443637	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532836764	chr8:60443648-60443649	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60441200-60442400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:60441200-60442600	Enhancers	Fetal Stomach	stomach
3	chr8:60441400-60443200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:60441600-60442600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr8:60441600-60443000	Active TSS	Rectal Smooth Muscle	rectum
6	chr8:60441600-60444600	Active TSS	Colon Smooth Muscle	Colon
7	chr8:60441800-60442400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:60442000-60442400	Enhancers	Colonic Mucosa	Colon
9	chr8:60442000-60442400	Active TSS	Fetal Intestine Large	intestine
10	chr8:60442000-60443000	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:60442000-60443000	Active TSS	Fetal Intestine Small	intestine
12	chr8:60442000-60443200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr8:60442200-60442400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr8:60442400-60442600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:60442400-60442600	Active TSS	Colonic Mucosa	Colon
16	chr8:60442400-60442800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:60442400-60443000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:60442400-60443000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:60442400-60444200	Active TSS	Stomach Smooth Muscle	stomach
20	chr8:60442600-60443400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:60442600-60443800	Weak transcription	Fetal Stomach	stomach
22	chr8:60443000-60443200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:60443000-60443200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:60443200-60444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:60443400-60443800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr8:60443600-60446000	Enhancers	Primary T cells from cord blood	blood

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