Variant report

Variant	esv3342553
Chromosome Location	chr8:108372876-108375024
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	chr8:108368066..108369728-chr8:108370980..108373315,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16892432	chr8:108372895-108372896	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545723789	chr8:108372904-108372905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2514852	chr8:108372944-108372945	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185320065	chr8:108372945-108372946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549773222	chr8:108372969-108372970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569635945	chr8:108372979-108372980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528970815	chr8:108373002-108373003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371212995	chr8:108373003-108373004	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548738433	chr8:108373029-108373030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565541306	chr8:108373044-108373045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188915212	chr8:108373049-108373050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557758695	chr8:108373107-108373108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2445352	chr8:108373109-108373110	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537029608	chr8:108373181-108373182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181405534	chr8:108373241-108373242	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574150312	chr8:108373242-108373243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73702050	chr8:108373256-108373257	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560053544	chr8:108373259-108373260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10102070	chr8:108373280-108373281	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10102071	chr8:108373284-108373285	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529105775	chr8:108373287-108373288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185544587	chr8:108373361-108373362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542507424	chr8:108373402-108373403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2514853	chr8:108373430-108373431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190005729	chr8:108373433-108373434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180990165	chr8:108373480-108373481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543016633	chr8:108373583-108373584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1283655	chr8:108373623-108373624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141237204	chr8:108373626-108373627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548677288	chr8:108373646-108373647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559064089	chr8:108373686-108373687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528267342	chr8:108373710-108373711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57939569	chr8:108373736-108373737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76662572	chr8:108373737-108373738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60494110	chr8:108373738-108373739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62516162	chr8:108373781-108373782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11774753	chr8:108373788-108373789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs66641433	chr8:108373811-108373812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537369675	chr8:108373815-108373816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550674109	chr8:108373816-108373817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567669638	chr8:108373817-108373818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536684235	chr8:108373818-108373819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1283656	chr8:108373827-108373828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553498014	chr8:108373855-108373856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556827542	chr8:108373857-108373858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186027254	chr8:108373964-108373965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116706531	chr8:108373970-108373971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370170448	chr8:108374012-108374013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60861660	chr8:108374013-108374014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150769681	chr8:108374059-108374060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
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
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108345200-108393200	Weak transcription	Aorta	Aorta
2	chr8:108352400-108379000	Weak transcription	Psoas Muscle	Psoas
3	chr8:108357200-108375000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:108358600-108375200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:108359000-108374400	Weak transcription	Adipose Nuclei	Adipose
6	chr8:108360400-108374400	Weak transcription	Fetal Heart	heart
7	chr8:108369200-108377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:108370200-108381200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:108371000-108379000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:108371200-108380400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:108371400-108389400	Weak transcription	Osteobl	bone
12	chr8:108372400-108374600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:108372400-108384600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:108372600-108373400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:108372600-108374600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:108372800-108373000	Weak transcription	NHDF-Ad	bronchial
17	chr8:108372800-108374600	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:108373000-108373400	Enhancers	NHDF-Ad	bronchial
19	chr8:108373400-108374800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:108373400-108378400	Weak transcription	NHDF-Ad	bronchial
21	chr8:108374000-108374200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:108374200-108375000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:108374400-108375600	Enhancers	Adipose Nuclei	Adipose
24	chr8:108374400-108375800	Enhancers	Fetal Heart	heart
25	chr8:108374600-108375200	Enhancers	Colon Smooth Muscle	Colon
26	chr8:108374600-108375600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:108374600-108375800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:108374800-108375800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:108375000-108375800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:108375000-108375800	Enhancers	Skeletal Muscle Female	skeletal muscle

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