Variant report

Variant	nsv611853
Chromosome Location	chr8:108503702-108505986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13272688	chr8:108503702-108503703	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546567340	chr8:108503703-108503704	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78421695	chr8:108503707-108503708	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532328857	chr8:108503800-108503801	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs182749394	chr8:108503810-108503811	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs543264099	chr8:108503816-108503817	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs187871565	chr8:108503855-108503856	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs550467660	chr8:108503860-108503861	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs148857044	chr8:108503880-108503881	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs570659106	chr8:108503881-108503882	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs548325322	chr8:108503914-108503915	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs568308303	chr8:108503921-108503922	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs534159120	chr8:108503963-108503964	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs554150613	chr8:108504008-108504009	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs143443021	chr8:108504012-108504013	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs71524711	chr8:108504019-108504020	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539758382	chr8:108504020-108504021	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558484835	chr8:108504031-108504032	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190617272	chr8:108504034-108504035	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs147991438	chr8:108504076-108504077	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561005837	chr8:108504080-108504081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs184108141	chr8:108504109-108504110	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs534018225	chr8:108504187-108504188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs1368491	chr8:108504268-108504269	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140960967	chr8:108504277-108504278	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs560106498	chr8:108504278-108504279	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs56163052	chr8:108504327-108504328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552191657	chr8:108504372-108504373	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555003611	chr8:108504405-108504406	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs562540395	chr8:108504447-108504448	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs531638551	chr8:108504489-108504490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574812985	chr8:108504527-108504528	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs77237250	chr8:108504565-108504566	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs112845963	chr8:108504598-108504599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7463024	chr8:108504626-108504627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113685143	chr8:108504627-108504628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187636727	chr8:108504737-108504738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558905688	chr8:108504751-108504752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556943044	chr8:108504755-108504756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372630839	chr8:108504761-108504762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537873973	chr8:108504769-108504770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139212505	chr8:108504779-108504780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55893785	chr8:108504796-108504797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574552375	chr8:108504812-108504813	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs539961993	chr8:108504820-108504821	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs376611580	chr8:108504840-108504841	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs143194275	chr8:108504860-108504861	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs577011796	chr8:108504944-108504945	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147517724	chr8:108504956-108504957	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs562478794	chr8:108504957-108504958	Weak transcription Enhancers Flanking 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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108497600-108504200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:108497800-108508400	Weak transcription	Left Ventricle	heart
3	chr8:108498200-108506800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:108498400-108506800	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:108498400-108507400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:108499000-108506600	Weak transcription	Brain Substantia Nigra	brain
7	chr8:108499400-108507000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:108499600-108506800	Weak transcription	Fetal Thymus	thymus
9	chr8:108499800-108506800	Weak transcription	Aorta	Aorta
10	chr8:108500400-108507200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:108501000-108504000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:108501200-108504200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:108501800-108505200	Weak transcription	Fetal Kidney	kidney
14	chr8:108502000-108504000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:108502200-108504200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:108502400-108507600	Weak transcription	Psoas Muscle	Psoas
17	chr8:108502600-108503800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:108502600-108503800	Enhancers	Osteobl	bone
19	chr8:108502600-108504000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:108502600-108506800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:108502800-108503800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:108502800-108505400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:108502800-108506400	Weak transcription	NHDF-Ad	bronchial
24	chr8:108502800-108506400	Weak transcription	NHLF	lung
25	chr8:108502800-108506600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:108502800-108506600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:108502800-108506600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:108502800-108506600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:108502800-108506600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:108502800-108506600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:108502800-108506600	Weak transcription	Brain Germinal Matrix	brain
32	chr8:108502800-108506600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:108502800-108506800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:108502800-108506800	Weak transcription	Fetal Brain Female	brain
35	chr8:108502800-108507000	Weak transcription	Ovary	ovary
36	chr8:108502800-108507200	Weak transcription	A549	lung
37	chr8:108502800-108507600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:108502800-108509200	Weak transcription	NHEK	skin
39	chr8:108503000-108505200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:108503000-108505200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:108503000-108505800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:108503000-108506600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:108503000-108506600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:108503000-108506600	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:108503000-108506800	Weak transcription	Adipose Nuclei	Adipose
46	chr8:108503000-108507400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:108503000-108508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:108503200-108505400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:108503200-108506200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:108503400-108504000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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