Variant report

Variant	nsv972541
Chromosome Location	chr8:100252299-100255129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100247496..100249230-chr8:100251577..100253709,2	K562	blood:
2	chr8:100253785..100255699-chr8:100276390..100278151,2	MCF-7	breast:
3	chr8:100253354..100255632-chr8:100258136..100261117,2	MCF-7	breast:
4	chr8:100253574..100255217-chr8:100258258..100260154,2	K562	blood:
5	chr8:100250430..100253213-chr8:100261169..100262715,2	MCF-7	breast:
6	chr8:100248258..100250517-chr8:100253554..100255615,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370479845	chr8:100252336-100252337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146536614	chr8:100252386-100252387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566657729	chr8:100252387-100252388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567783533	chr8:100252389-100252390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536341432	chr8:100252432-100252433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555989252	chr8:100252437-100252438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575786654	chr8:100252443-100252444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189109736	chr8:100252506-100252507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535326368	chr8:100252510-100252511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141202533	chr8:100252541-100252542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181801336	chr8:100252542-100252543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560711677	chr8:100252548-100252549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116997620	chr8:100252583-100252584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531192751	chr8:100252594-100252595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9792181	chr8:100252620-100252621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531904987	chr8:100252663-100252664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373119946	chr8:100252709-100252710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552121811	chr8:100252718-100252719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537979281	chr8:100252721-100252722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13263759	chr8:100252754-100252755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs527966164	chr8:100252779-100252780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186406185	chr8:100252782-100252783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201991667	chr8:100252789-100252790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578021722	chr8:100252792-100252793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528634360	chr8:100252794-100252795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567552127	chr8:100252800-100252801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536755873	chr8:100252821-100252822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549823389	chr8:100252825-100252826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190446529	chr8:100252850-100252851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145177166	chr8:100252876-100252877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180760630	chr8:100252922-100252923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546228417	chr8:100252928-100252929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558309673	chr8:100252943-100252944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546800598	chr8:100252945-100252946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369616248	chr8:100252987-100252988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572345105	chr8:100252996-100252997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540269350	chr8:100252998-100252999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554092780	chr8:100253014-100253015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554552341	chr8:100253103-100253104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185962195	chr8:100253129-100253130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543556179	chr8:100253141-100253142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371869599	chr8:100253149-100253150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191388811	chr8:100253238-100253239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576988709	chr8:100253251-100253252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182843020	chr8:100253267-100253268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565330911	chr8:100253277-100253278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369328696	chr8:100253286-100253287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568405689	chr8:100253350-100253351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541317776	chr8:100253371-100253372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561344809	chr8:100253386-100253387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	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
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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100207000-100290400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr8:100210000-100252400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:100212600-100253000	Weak transcription	Lung	lung
4	chr8:100214800-100252600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:100214800-100293200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:100230400-100257800	Weak transcription	Aorta	Aorta
7	chr8:100231000-100253000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:100231000-100255400	Weak transcription	Right Ventricle	heart
9	chr8:100231200-100253000	Weak transcription	Gastric	stomach
10	chr8:100232000-100267400	Weak transcription	Left Ventricle	heart
11	chr8:100236400-100253000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:100236600-100252600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:100236800-100253000	Weak transcription	Osteobl	bone
14	chr8:100241200-100255400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:100243200-100253000	Weak transcription	Brain Substantia Nigra	brain
16	chr8:100243400-100253000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:100244400-100253000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:100244400-100253000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:100246400-100252600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:100246400-100253000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:100246400-100288200	Weak transcription	Primary T cells from cord blood	blood
22	chr8:100246600-100252400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:100246600-100252800	Weak transcription	HSMMtube	muscle
24	chr8:100246600-100253000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:100246600-100253000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:100246600-100253000	Weak transcription	Dnd41	blood
27	chr8:100246600-100253200	Weak transcription	Fetal Lung	lung
28	chr8:100246600-100253200	Weak transcription	NHLF	lung
29	chr8:100246600-100256200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:100246600-100261000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr8:100246600-100267000	Weak transcription	Primary B cells from cord blood	blood
32	chr8:100246800-100253000	Weak transcription	Fetal Intestine Large	intestine
33	chr8:100246800-100253000	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:100246800-100253200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:100246800-100253200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:100246800-100253200	Weak transcription	Fetal Stomach	stomach
37	chr8:100246800-100261000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr8:100246800-100262000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:100246800-100266800	Weak transcription	Fetal Intestine Small	intestine
40	chr8:100251600-100252400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:100251600-100253000	Weak transcription	NHDF-Ad	bronchial
42	chr8:100251600-100253600	Enhancers	GM12878-XiMat	blood
43	chr8:100251600-100260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:100251800-100253000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:100252000-100269200	Weak transcription	Ovary	ovary
46	chr8:100252200-100252400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:100252200-100252400	Enhancers	Primary B cells from peripheral blood	blood
48	chr8:100252200-100252400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:100252200-100252400	Enhancers	Thymus	Thymus
50	chr8:100252200-100253400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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