Variant report

Variant	nsv1007197
Chromosome Location	chr1:240181417-240209741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:240190054..240190930-chr1:240352376..240353152,3	K562	blood:
2	chr1:240190048..240190853-chr1:240352486..240353186,3	MCF-7	breast:
3	chr1:240190029..240190913-chr1:240351333..240351835,2	MCF-7	breast:
4	chr1:240189746..240190908-chr1:240332012..240333362,5	MCF-7	breast:
5	chr1:240190170..240190882-chr1:240312730..240313531,4	MCF-7	breast:
6	chr1:240189936..240190957-chr1:240312515..240313773,4	MCF-7	breast:
7	chr1:240190026..240191518-chr1:240352380..240353443,9	MCF-7	breast:

Extended variants
information (count: 809 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:809 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577778236	chr1:240185036-240185037	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs71646803	chr1:240185095-240185096	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs374183419	chr1:240185117-240185118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534018526	chr1:240185143-240185144	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575623895	chr1:240185194-240185195	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542640756	chr1:240185211-240185212	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148280965	chr1:240185245-240185246	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141830779	chr1:240185246-240185247	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187927523	chr1:240185264-240185265	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17609907	chr1:240185265-240185266	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570781850	chr1:240185283-240185284	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550919297	chr1:240185318-240185319	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374828914	chr1:240185342-240185343	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13374476	chr1:240185373-240185374	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538715541	chr1:240185403-240185404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529963760	chr1:240185415-240185416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547898029	chr1:240185462-240185463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557040724	chr1:240185478-240185479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371447921	chr1:240185494-240185495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34727088	chr1:240185496-240185497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556170206	chr1:240185519-240185520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527406350	chr1:240185562-240185563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12122977	chr1:240185627-240185628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139770488	chr1:240185656-240185657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376495351	chr1:240185762-240185763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538826557	chr1:240185763-240185764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192472702	chr1:240185778-240185779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78866192	chr1:240185781-240185782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35343463	chr1:240185783-240185784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376010524	chr1:240185786-240185787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569466729	chr1:240185791-240185792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183063158	chr1:240185853-240185854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149798709	chr1:240185859-240185860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78980520	chr1:240185869-240185870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540777259	chr1:240185877-240185878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559069302	chr1:240185890-240185891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12027849	chr1:240185925-240185926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577141109	chr1:240185951-240185952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573373533	chr1:240185981-240185982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562673655	chr1:240185990-240185991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529951197	chr1:240186014-240186015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140097062	chr1:240186021-240186022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78036759	chr1:240186105-240186106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187400451	chr1:240186137-240186138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111769413	chr1:240186152-240186153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551881824	chr1:240186158-240186159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572169231	chr1:240186168-240186169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200621539	chr1:240186250-240186251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550916382	chr1:240186257-240186258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569391846	chr1:240186365-240186366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:240185000-240185400	Active TSS	Psoas Muscle	Psoas
2	chr1:240185200-240185400	Enhancers	NHDF-Ad	bronchial
3	chr1:240185400-240188800	Weak transcription	NHDF-Ad	bronchial
4	chr1:240188800-240189000	Enhancers	NHDF-Ad	bronchial
5	chr1:240189000-240190600	Weak transcription	NHDF-Ad	bronchial
6	chr1:240190200-240190800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:240190200-240191000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:240190400-240190800	Enhancers	HUVEC	blood vessel
9	chr1:240190600-240190800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:240190600-240190800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:240190600-240190800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:240190600-240190800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:240190600-240190800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:240190600-240190800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:240190600-240190800	Enhancers	Brain Hippocampus Middle	brain
16	chr1:240190600-240190800	Enhancers	A549	lung
17	chr1:240190600-240190800	Enhancers	HSMM	muscle
18	chr1:240190600-240190800	Enhancers	NHLF	lung
19	chr1:240190600-240190800	Enhancers	Osteobl	bone
20	chr1:240190600-240191000	Enhancers	NHDF-Ad	bronchial
21	chr1:240190800-240193400	Weak transcription	HUVEC	blood vessel
22	chr1:240190800-240193600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:240191000-240192200	Weak transcription	A549	lung
24	chr1:240191000-240192400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:240191000-240192400	Weak transcription	NHDF-Ad	bronchial
26	chr1:240191200-240192400	Weak transcription	HSMM	muscle
27	chr1:240191400-240192400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:240192000-240192200	Weak transcription	NHLF	lung
29	chr1:240192200-240193600	Enhancers	A549	lung
30	chr1:240192400-240194000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:240192400-240194200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:240192400-240194200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:240192400-240194200	Enhancers	NHLF	lung
34	chr1:240192400-240195400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:240192400-240195400	Enhancers	HSMM	muscle
36	chr1:240192400-240195600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:240192400-240197000	Enhancers	NHDF-Ad	bronchial
38	chr1:240192400-240197400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:240192400-240197400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:240192600-240193600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:240192600-240194200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:240192600-240194600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:240192600-240196800	Enhancers	Osteobl	bone
44	chr1:240192600-240197000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:240192800-240193000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:240192800-240194400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:240192800-240195400	Enhancers	NH-A	brain
48	chr1:240193000-240193600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:240193000-240193600	Enhancers	Fetal Kidney	kidney
50	chr1:240193200-240193800	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links