Variant report

Variant	nsv947339
Chromosome Location	chr1:184618714-184641256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:184613842..184615528-chr1:184617217..184618948,2	MCF-7	breast:
2	chr1:184604698..184606769-chr1:184619812..184621588,2	MCF-7	breast:
3	chr1:184587891..184589883-chr1:184623731..184626066,2	K562	blood:
4	chr1:184044390..184045158-chr1:184632814..184633544,2	MCF-7	breast:
5	chr1:184610419..184613412-chr1:184629459..184632397,2	MCF-7	breast:
6	chr1:184630885..184632795-chr1:184634591..184637459,2	MCF-7	breast:
7	chr1:184451862..184452635-chr1:184633099..184633695,2	MCF-7	breast:
8	chr1:184637359..184638932-chr1:184640228..184642032,2	K562	blood:
9	chr1:184605910..184608613-chr1:184618285..184620499,2	MCF-7	breast:
10	chr1:184434737..184435422-chr1:184633160..184633673,2	MCF-7	breast:
11	chr1:184044621..184045156-chr1:184632510..184633780,3	MCF-7	breast:
12	chr1:184630885..184632795-chr1:184634591..184637459,2	MCF-7	breast:
13	chr1:184637359..184638932-chr1:184640228..184642032,2	K562	blood:
14	chr1:184641175..184643659-chr1:184651481..184653037,2	MCF-7	breast:
15	chr1:184595979..184598591-chr1:184630812..184634151,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EDEM3-1	chr1:184641163-184641354	XLOC_001125
2	lnc-EDEM3-1	chr1:184638176-184638544	XLOC_001125
3	lnc-C1orf21-1	chr1:184634403-184634810	XLOC_000492
4	lnc-C1orf21-1	chr1:184632075-184633562	XLOC_000492
5	lnc-EDEM3-3	chr1:184632551-184633736	NONHSAT008391
6	lnc-EDEM3-2	chr1:184622320-184622348	XLOC_001124
7	lnc-C1orf21-1	chr1:184633030-184633562	NONHSAT008394

No data

Variant related genes	Relation type
BCL2L11	miRNA target sites

Extended variants
information (count: 780 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:780 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559347144	chr1:184618755-184618756	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs527702490	chr1:184618803-184618804	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs190950071	chr1:184618813-184618814	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs183520115	chr1:184618818-184618819	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs531722646	chr1:184618823-184618824	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs78805161	chr1:184618825-184618826	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs149972896	chr1:184618848-184618849	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs186486553	chr1:184618870-184618871	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs548077689	chr1:184618871-184618872	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs566215188	chr1:184618881-184618882	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs540104611	chr1:184618905-184618906	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs145429397	chr1:184618908-184618909	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs12121485	chr1:184618917-184618918	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537193639	chr1:184618955-184618956	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs114826052	chr1:184618984-184618985	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs73046798	chr1:184619002-184619003	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540835791	chr1:184619048-184619049	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs191716291	chr1:184619121-184619122	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs183437561	chr1:184619151-184619152	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs577885000	chr1:184619195-184619196	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs544884591	chr1:184619200-184619201	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564178070	chr1:184619201-184619202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531594258	chr1:184619206-184619207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556063677	chr1:184619214-184619215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561804620	chr1:184619324-184619325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377225791	chr1:184619402-184619403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149218232	chr1:184619412-184619413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566249606	chr1:184619458-184619459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539786072	chr1:184619503-184619504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188092322	chr1:184619506-184619507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371862441	chr1:184619507-184619508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539709959	chr1:184619523-184619524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142420740	chr1:184619524-184619525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555518976	chr1:184619556-184619557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192782290	chr1:184619558-184619559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377283573	chr1:184619568-184619569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376163348	chr1:184619580-184619581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146843116	chr1:184619589-184619590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573127538	chr1:184619621-184619622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182184939	chr1:184619628-184619629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12144908	chr1:184619666-184619667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370598392	chr1:184619687-184619688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544945319	chr1:184619696-184619697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186743783	chr1:184619730-184619731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140646965	chr1:184619799-184619800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191353196	chr1:184619841-184619842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184610474	chr1:184619852-184619853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529404006	chr1:184619882-184619883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547861738	chr1:184619951-184619952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559749770	chr1:184620005-184620006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184616000-184619400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr1:184616200-184619400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:184617600-184619200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:184617800-184619000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:184617800-184619200	Enhancers	Fetal Muscle Leg	muscle
6	chr1:184617800-184619600	Enhancers	Left Ventricle	heart
7	chr1:184617800-184620000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:184618000-184619200	Enhancers	Adipose Nuclei	Adipose
9	chr1:184618000-184619200	Enhancers	Brain Anterior Caudate	brain
10	chr1:184618000-184619200	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:184618000-184619200	Flanking Active TSS	GM12878-XiMat	blood
12	chr1:184618000-184619400	Enhancers	NHLF	lung
13	chr1:184618000-184619600	Enhancers	Fetal Heart	heart
14	chr1:184618000-184619600	Enhancers	Right Atrium	heart
15	chr1:184618200-184618800	Enhancers	Brain Angular Gyrus	brain
16	chr1:184618200-184619000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:184618200-184619200	Enhancers	Brain Hippocampus Middle	brain
18	chr1:184618200-184619200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:184618200-184619200	Enhancers	Psoas Muscle	Psoas
20	chr1:184618200-184619200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:184618200-184619200	Flanking Active TSS	HSMMtube	muscle
22	chr1:184618400-184618800	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:184618400-184618800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:184618400-184619000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:184618400-184619000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:184618400-184619200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:184618400-184619200	Enhancers	Right Ventricle	heart
28	chr1:184618600-184618800	Enhancers	HSMM	muscle
29	chr1:184618600-184618800	Enhancers	Osteobl	bone
30	chr1:184618600-184619200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:184618600-184619200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:184618600-184619400	Enhancers	NHDF-Ad	bronchial
33	chr1:184618600-184619600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:184618800-184619000	Flanking Active TSS	HSMM	muscle
35	chr1:184618800-184619200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:184618800-184620000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:184619000-184619200	Enhancers	HSMM	muscle
38	chr1:184619000-184619600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:184619200-184620000	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:184619200-184620000	Enhancers	GM12878-XiMat	blood
41	chr1:184619200-184620000	Enhancers	HSMMtube	muscle
42	chr1:184619200-184624200	Weak transcription	Right Ventricle	heart
43	chr1:184620000-184620200	Enhancers	Fetal Muscle Leg	muscle
44	chr1:184624000-184624800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:184624200-184624400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:184624200-184624400	Enhancers	Right Ventricle	heart
47	chr1:184624200-184624800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:184624200-184625400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:184624200-184625800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:184624400-184624800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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