Variant report

Variant	nsv611872
Chromosome Location	chr8:108505425-108506185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 99 )

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	rs184301850	chr8:108505457-108505458	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs536176455	chr8:108505485-108505486	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs138836750	chr8:108505486-108505487	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs200940008	chr8:108505487-108505488	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554565468	chr8:108505568-108505569	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567967831	chr8:108505569-108505570	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs144206715	chr8:108505579-108505580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535771306	chr8:108505592-108505593	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs576955354	chr8:108505601-108505602	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs187185742	chr8:108505650-108505651	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs148717670	chr8:108505653-108505654	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192921171	chr8:108505654-108505655	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541728643	chr8:108505666-108505667	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561698348	chr8:108505722-108505723	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs527729883	chr8:108505836-108505837	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs541503051	chr8:108505837-108505838	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs184591193	chr8:108505898-108505899	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs533546895	chr8:108505900-108505901	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550368720	chr8:108505983-108505984	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs1283721	chr8:108505986-108505987	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs550677929	chr8:108506028-108506029	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs60357123	chr8:108506068-108506069	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189525781	chr8:108506069-108506070	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568039657	chr8:108506080-108506081	Enhancers Weak transcription Flanking Active TSS Active TSS	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108497800-108508400	Weak transcription	Left Ventricle	heart
2	chr8:108498200-108506800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:108498400-108506800	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:108498400-108507400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:108499000-108506600	Weak transcription	Brain Substantia Nigra	brain
6	chr8:108499400-108507000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:108499600-108506800	Weak transcription	Fetal Thymus	thymus
8	chr8:108499800-108506800	Weak transcription	Aorta	Aorta
9	chr8:108500400-108507200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:108502400-108507600	Weak transcription	Psoas Muscle	Psoas
11	chr8:108502600-108506800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:108502800-108506400	Weak transcription	NHDF-Ad	bronchial
13	chr8:108502800-108506400	Weak transcription	NHLF	lung
14	chr8:108502800-108506600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:108502800-108506600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:108502800-108506600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:108502800-108506600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:108502800-108506600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:108502800-108506600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:108502800-108506600	Weak transcription	Brain Germinal Matrix	brain
21	chr8:108502800-108506600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:108502800-108506800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:108502800-108506800	Weak transcription	Fetal Brain Female	brain
24	chr8:108502800-108507000	Weak transcription	Ovary	ovary
25	chr8:108502800-108507200	Weak transcription	A549	lung
26	chr8:108502800-108507600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:108502800-108509200	Weak transcription	NHEK	skin
28	chr8:108503000-108505800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:108503000-108506600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:108503000-108506600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:108503000-108506600	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:108503000-108506800	Weak transcription	Adipose Nuclei	Adipose
33	chr8:108503000-108507400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:108503000-108508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:108503200-108506200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:108503600-108506400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:108503800-108506200	Weak transcription	Osteobl	bone
38	chr8:108503800-108506800	Weak transcription	Brain Anterior Caudate	brain
39	chr8:108503800-108506800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:108504000-108506400	Weak transcription	Fetal Lung	lung
41	chr8:108504000-108506600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:108504000-108506600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:108504000-108506600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:108504800-108505600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr8:108505000-108508800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:108505200-108505800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:108505200-108505800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:108505200-108506200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:108505200-108506200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:108505200-108506200	Enhancers	Fetal Kidney	kidney

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