Variant report

Variant	nsv8382
Chromosome Location	chr8:119324224-119341066
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	chr8:119313185..119314685-chr8:119324258..119326116,2	MCF-7	breast:
2	chr8:118875478..118876394-chr8:119340079..119340635,2	MCF-7	breast:

Extended variants
information (count: 670 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7828165	chr8:119324297-119324298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573817103	chr8:119324325-119324326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75008860	chr8:119324352-119324353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189060421	chr8:119324354-119324355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548079813	chr8:119324422-119324423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181810295	chr8:119324469-119324470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187664258	chr8:119324484-119324485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564442948	chr8:119324577-119324578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528609052	chr8:119324611-119324612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13275560	chr8:119324638-119324639	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564868775	chr8:119324645-119324646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12156385	chr8:119324666-119324667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112215080	chr8:119324675-119324676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529536655	chr8:119324676-119324677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548552871	chr8:119324690-119324691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12155712	chr8:119324698-119324699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190741558	chr8:119324716-119324717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79929257	chr8:119324749-119324750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147158626	chr8:119324763-119324764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566096659	chr8:119324797-119324798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533541668	chr8:119324821-119324822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576157850	chr8:119324854-119324855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561956242	chr8:119324858-119324859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199976591	chr8:119324895-119324896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538052761	chr8:119324903-119324904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556345147	chr8:119324942-119324943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538768613	chr8:119324951-119324952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578013530	chr8:119324952-119324953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72675866	chr8:119324964-119324965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554093048	chr8:119325009-119325010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112789421	chr8:119325035-119325036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573302097	chr8:119325057-119325058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1485895	chr8:119325133-119325134	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562248802	chr8:119325140-119325141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180919507	chr8:119325185-119325186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544794948	chr8:119325186-119325187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562715237	chr8:119325202-119325203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4593580	chr8:119325210-119325211	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558686874	chr8:119325226-119325227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373250493	chr8:119325266-119325267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10086371	chr8:119325270-119325271	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373804563	chr8:119325332-119325333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566021497	chr8:119325341-119325342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368835425	chr8:119325343-119325344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527329203	chr8:119325371-119325372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73321972	chr8:119325383-119325384	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567356565	chr8:119325384-119325385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543638725	chr8:119325453-119325454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537514157	chr8:119325465-119325466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186243489	chr8:119325509-119325510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
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
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
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
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119320400-119324600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:119321800-119325000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:119321800-119325200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:119322200-119324400	Enhancers	Primary T cells from cord blood	blood
5	chr8:119322800-119325600	Weak transcription	Pancreas	Pancrea
6	chr8:119323000-119324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:119323000-119329400	Weak transcription	Left Ventricle	heart
8	chr8:119323000-119357600	Weak transcription	Aorta	Aorta
9	chr8:119323000-119394000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:119323200-119329800	Weak transcription	Liver	Liver
11	chr8:119323800-119324400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:119323800-119362400	Weak transcription	GM12878-XiMat	blood
13	chr8:119324200-119324400	Enhancers	Small Intestine	intestine
14	chr8:119324200-119324800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:119324400-119324600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:119324400-119325400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:119324400-119338000	Weak transcription	Small Intestine	intestine
18	chr8:119324600-119325800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:119326800-119328200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:119327400-119328400	Enhancers	Osteobl	bone
21	chr8:119327600-119328200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:119327600-119328200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:119327600-119328400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:119327600-119328400	Enhancers	NHDF-Ad	bronchial
25	chr8:119327800-119328200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:119330800-119361000	Weak transcription	Pancreas	Pancrea
27	chr8:119331400-119331600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:119331400-119332000	Enhancers	Thymus	Thymus
29	chr8:119331600-119334200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:119334200-119335000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:119334200-119335000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:119334200-119335400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:119334200-119335400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:119334400-119335000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:119334400-119335400	Enhancers	NHDF-Ad	bronchial
36	chr8:119334600-119335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:119334600-119335000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:119335000-119336800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:119335000-119337000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:119335000-119337000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:119335400-119336800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:119335400-119337000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:119335400-119343600	Weak transcription	NHDF-Ad	bronchial
44	chr8:119336000-119345200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:119336800-119337400	Enhancers	HUVEC	blood vessel
46	chr8:119336800-119337600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:119336800-119339600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:119337000-119337600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:119337000-119337600	Enhancers	Osteobl	bone
50	chr8:119337000-119338400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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