Variant report

Variant	esv275540
Chromosome Location	chr1:210658336-210663000
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	chr1:210545486..210548370-chr1:210655740..210658368,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200972	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12755271	chr1:210658336-210658337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189217503	chr1:210658340-210658341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560480632	chr1:210658359-210658360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540190353	chr1:210658361-210658362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565068682	chr1:210658409-210658410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529577655	chr1:210658471-210658472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76066350	chr1:210658477-210658478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532178423	chr1:210658503-210658504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544018500	chr1:210658515-210658516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114248136	chr1:210658520-210658521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76491451	chr1:210658528-210658529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145534921	chr1:210658548-210658549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534524534	chr1:210658616-210658617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558973958	chr1:210658618-210658619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566386784	chr1:210658620-210658621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577347924	chr1:210658624-210658625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527972226	chr1:210658625-210658626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148840181	chr1:210658635-210658636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571147213	chr1:210658673-210658674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113022834	chr1:210658693-210658694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185890147	chr1:210658696-210658697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568562379	chr1:210658727-210658728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535991127	chr1:210658739-210658740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554119187	chr1:210658809-210658810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572374312	chr1:210658815-210658816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77764419	chr1:210658824-210658825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558537142	chr1:210658828-210658829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576734656	chr1:210658833-210658834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386639007	chr1:210658841-210658842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2501885	chr1:210658843-210658844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531920856	chr1:210658883-210658884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147922870	chr1:210658885-210658886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574187151	chr1:210658887-210658888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541560411	chr1:210658889-210658890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560073922	chr1:210658906-210658907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114100459	chr1:210658908-210658909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550303081	chr1:210658992-210658993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564586217	chr1:210659035-210659036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147030251	chr1:210659036-210659037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532088296	chr1:210659099-210659100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550385421	chr1:210659115-210659116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568703445	chr1:210659126-210659127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535929132	chr1:210659146-210659147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547544721	chr1:210659160-210659161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566178966	chr1:210659164-210659165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112592524	chr1:210659225-210659226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115684826	chr1:210659248-210659249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576724063	chr1:210659258-210659259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537789950	chr1:210659370-210659371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555925833	chr1:210659397-210659398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210639400-210668200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:210640000-210660400	Weak transcription	Aorta	Aorta
3	chr1:210643200-210674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:210648400-210658800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:210648800-210660400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:210653800-210678800	Weak transcription	HSMM	muscle
7	chr1:210654400-210659000	Weak transcription	HSMMtube	muscle
8	chr1:210655000-210658800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:210657000-210660400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:210657000-210663600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:210657000-210669600	Weak transcription	Brain Substantia Nigra	brain
12	chr1:210657800-210659800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:210658000-210660200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:210658800-210663000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:210658800-210664800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:210659000-210663600	Strong transcription	HSMMtube	muscle
17	chr1:210659800-210661600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:210660200-210661000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:210660400-210660600	ZNF genes & repeats	Aorta	Aorta
20	chr1:210660400-210661000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:210660400-210661200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:210660600-210664600	Weak transcription	Aorta	Aorta
23	chr1:210661000-210662200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:210661600-210662000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:210662000-210663400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:210662200-210663600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:210662600-210663400	Enhancers	Fetal Stomach	stomach
28	chr1:210662600-210664800	Enhancers	Fetal Muscle Leg	muscle
29	chr1:210663000-210663600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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