Variant report

Variant	nsv933871
Chromosome Location	chr1:97981576-98003928
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	chr1:97658017..97658973-chr1:97991101..97992019,3	MCF-7	breast:
2	chr1:97603769..97604477-chr1:97990784..97991664,2	MCF-7	breast:

Extended variants
information (count: 899 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:899 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541487302	chr1:97981586-97981587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6657204	chr1:97981587-97981588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182731798	chr1:97981596-97981597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371996189	chr1:97981597-97981598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141050810	chr1:97981622-97981623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36000256	chr1:97981635-97981636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548585798	chr1:97981695-97981696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1337752	chr1:97981706-97981707	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs530363455	chr1:97981737-97981738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538177388	chr1:97981807-97981808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368608144	chr1:97981824-97981825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187353332	chr1:97981828-97981829	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571853777	chr1:97981875-97981876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534125653	chr1:97981885-97981886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554292671	chr1:97981910-97981911	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574193402	chr1:97981915-97981916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549919089	chr1:97981921-97981922	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192357994	chr1:97981922-97981923	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183278126	chr1:97981966-97981967	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187522135	chr1:97981967-97981968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544529897	chr1:97981998-97981999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569918299	chr1:97982003-97982004	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72729976	chr1:97982016-97982017	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142176448	chr1:97982022-97982023	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540062729	chr1:97982076-97982077	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559880307	chr1:97982103-97982104	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146717750	chr1:97982119-97982120	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548644868	chr1:97982169-97982170	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562176788	chr1:97982227-97982228	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547422674	chr1:97982249-97982250	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532441453	chr1:97982250-97982251	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114611308	chr1:97982263-97982264	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191995771	chr1:97982349-97982350	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571848171	chr1:97982364-97982365	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534467673	chr1:97982365-97982366	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547691024	chr1:97982426-97982427	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567833552	chr1:97982454-97982455	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182820931	chr1:97982501-97982502	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188251899	chr1:97982523-97982524	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114388213	chr1:97982781-97982782	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538652947	chr1:97982805-97982806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566073698	chr1:97982872-97982873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79759349	chr1:97982901-97982902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577874636	chr1:97982933-97982934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145073244	chr1:97982934-97982935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138862633	chr1:97982956-97982957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559943362	chr1:97982959-97982960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192434992	chr1:97983018-97983019	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140470649	chr1:97983033-97983034	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78554298	chr1:97983082-97983083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97872600-98014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:97928600-98018200	Weak transcription	Ovary	ovary
3	chr1:97955800-97990000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:97956400-98009400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:97963000-98009400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:97964600-98010400	Weak transcription	Dnd41	blood
7	chr1:97965000-97985200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:97966400-97988400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:97967200-97982600	Weak transcription	Pancreas	Pancrea
10	chr1:97967200-97982600	Weak transcription	HSMM	muscle
11	chr1:97972000-97985600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:97972200-97985200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:97972400-97983400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:97972400-97988600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:97973800-97996200	Weak transcription	Osteobl	bone
16	chr1:97976000-97983400	Weak transcription	Fetal Heart	heart
17	chr1:97976400-97982400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:97976400-97983000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:97976600-97999000	Weak transcription	Liver	Liver
20	chr1:97976600-98014600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:97976600-98054200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:97976800-97981800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:97976800-97985200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:97976800-97988200	Weak transcription	Primary T cells from cord blood	blood
25	chr1:97976800-98009400	Weak transcription	Primary B cells from cord blood	blood
26	chr1:97976800-98051400	Weak transcription	Left Ventricle	heart
27	chr1:97977400-97986800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:97978600-97983800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:97980000-97982000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:97980000-98013400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:97981800-97982000	Enhancers	Fetal Lung	lung
32	chr1:97982000-97982800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:97982400-97982600	Enhancers	Brain Substantia Nigra	brain
34	chr1:97982600-97982800	Enhancers	Pancreas	Pancrea
35	chr1:97982600-97983000	Weak transcription	Brain Substantia Nigra	brain
36	chr1:97983000-97983400	Enhancers	Brain Substantia Nigra	brain
37	chr1:97983000-97988000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:97983400-97984200	Enhancers	Fetal Heart	heart
39	chr1:97983400-97986600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:97984000-97984400	Enhancers	Fetal Brain Male	brain
41	chr1:97986600-97987000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:97986600-98014600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:97986800-97987000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr1:97987000-97989000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:97987000-98003800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:97987800-97988200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr1:97988000-97988400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
48	chr1:97988200-98023000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:97988400-97991800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:97988800-97991200	Weak transcription	NHDF-Ad	bronchial

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