Variant report

Variant	nsv873151
Chromosome Location	chr1:210818347-210846888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210324019..210326908-chr1:210824141..210827661,3	K562	blood:
2	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
3	chr1:210829972..210830727-chr4:175163977..175164893,2	MCF-7	breast:
4	chr1:210846826..210848354-chr1:210867968..210870812,2	K562	blood:
5	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
6	chr1:210811945..210813566-chr1:210817844..210819784,2	MCF-7	breast:

Extended variants
information (count: 1194 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1194 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6683572	chr1:210818347-210818348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556273000	chr1:210818381-210818382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568434728	chr1:210818394-210818395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114518883	chr1:210818395-210818396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571994197	chr1:210818431-210818432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553840915	chr1:210818452-210818453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573095909	chr1:210818453-210818454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182080946	chr1:210818472-210818473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558885573	chr1:210818475-210818476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368939513	chr1:210818491-210818492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372211390	chr1:210818509-210818510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552451375	chr1:210818512-210818513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113474532	chr1:210818515-210818516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139673866	chr1:210818526-210818527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562622564	chr1:210818533-210818534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529719793	chr1:210818541-210818542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534640287	chr1:210818551-210818552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534602831	chr1:210818599-210818600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559846609	chr1:210818634-210818635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527286578	chr1:210818644-210818645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374430543	chr1:210818658-210818659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145186437	chr1:210818661-210818662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113538513	chr1:210818684-210818685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148680832	chr1:210818685-210818686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574367584	chr1:210818700-210818701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112240682	chr1:210818712-210818713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370518014	chr1:210818753-210818754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112586437	chr1:210818766-210818767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535533219	chr1:210818768-210818769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4951711	chr1:210818770-210818771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565982914	chr1:210818824-210818825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140091897	chr1:210818835-210818836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144066519	chr1:210818889-210818890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376961518	chr1:210818899-210818900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577179123	chr1:210818906-210818907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189684501	chr1:210818912-210818913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182300041	chr1:210818913-210818914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574475545	chr1:210818920-210818921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79946770	chr1:210818944-210818945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560182224	chr1:210818952-210818953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77557709	chr1:210818962-210818963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187058487	chr1:210818974-210818975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75084949	chr1:210818980-210818981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73065516	chr1:210818994-210818995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116455615	chr1:210819069-210819070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562192021	chr1:210819109-210819110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529483190	chr1:210819167-210819168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11119557	chr1:210819179-210819180	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200973358	chr1:210819225-210819226	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs372624810	chr1:210819226-210819227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210795400-210822600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:210801600-210823000	Weak transcription	Aorta	Aorta
3	chr1:210807800-210820400	Weak transcription	HSMM	muscle
4	chr1:210808600-210820400	Weak transcription	HSMMtube	muscle
5	chr1:210813200-210819000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:210815200-210827000	Weak transcription	Pancreas	Pancrea
7	chr1:210818400-210821800	Enhancers	Fetal Stomach	stomach
8	chr1:210818600-210819400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:210818600-210822200	Enhancers	HepG2	liver
10	chr1:210818800-210819400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:210818800-210819400	Enhancers	Placenta	Placenta
12	chr1:210818800-210821800	Enhancers	Fetal Muscle Leg	muscle
13	chr1:210819000-210819200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:210819000-210819400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:210819000-210819400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:210819000-210819400	Enhancers	Brain Anterior Caudate	brain
17	chr1:210819000-210819400	Enhancers	Gastric	stomach
18	chr1:210819000-210819400	Enhancers	Left Ventricle	heart
19	chr1:210819000-210819600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:210819000-210819800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:210819000-210820000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:210819000-210821000	Enhancers	Ovary	ovary
23	chr1:210819000-210822000	Enhancers	Fetal Lung	lung
24	chr1:210819200-210819400	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:210819200-210819600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:210819200-210819600	Enhancers	Liver	Liver
27	chr1:210819200-210819800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:210819200-210820800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:210819400-210819600	Enhancers	Fetal Brain Female	brain
30	chr1:210819400-210820200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:210819400-210820800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:210819400-210820800	Weak transcription	Left Ventricle	heart
33	chr1:210819400-210827000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:210819400-210827200	Weak transcription	Brain Anterior Caudate	brain
35	chr1:210819600-210820400	Weak transcription	Fetal Brain Female	brain
36	chr1:210819600-210820600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:210819600-210827200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:210819800-210820400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:210819800-210823800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:210820000-210827200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:210820200-210821600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:210820400-210820600	Enhancers	Fetal Brain Female	brain
43	chr1:210820400-210821600	Enhancers	HSMMtube	muscle
44	chr1:210820400-210821800	Enhancers	Dnd41	blood
45	chr1:210820400-210821800	Enhancers	HSMM	muscle
46	chr1:210820600-210821200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:210820600-210821400	Weak transcription	Fetal Brain Female	brain
48	chr1:210820600-210821800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:210820600-210822000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:210820600-210827000	Weak transcription	Duodenum Mucosa	Duodenum

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