Variant report

Variant	esv2764245
Chromosome Location	chr1:241572846-241577538
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	chr1:241562543..241564148-chr1:241572299..241574103,2	K562	blood:
2	chr1:241576862..241577389-chr1:241648832..241649350,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KMO-1	chr1:241577057-241577136	NONHSAT010538
2	lnc-KMO-1	chr1:241577057-241577136	NONHSAT010539

Extended variants
information (count: 211 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9428872	chr1:241572846-241572847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560484014	chr1:241572857-241572858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541425786	chr1:241572870-241572871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2211300	chr1:241572927-241572928	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184392360	chr1:241572949-241572950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562820432	chr1:241572957-241572958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9428873	chr1:241572989-241572990	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs34337539	chr1:241573020-241573021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540032340	chr1:241573021-241573022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551845973	chr1:241573038-241573039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550687019	chr1:241573040-241573041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12135700	chr1:241573042-241573043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58879307	chr1:241573043-241573044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6657144	chr1:241573044-241573045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527931172	chr1:241573046-241573047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200296979	chr1:241573053-241573054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200041846	chr1:241573055-241573056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2994957	chr1:241573056-241573057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142094992	chr1:241573076-241573077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67380237	chr1:241573077-241573078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60029701	chr1:241573080-241573081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9428504	chr1:241573115-241573116	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs35902465	chr1:241573161-241573162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553807953	chr1:241573168-241573169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67317073	chr1:241573169-241573170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs67511514	chr1:241573170-241573171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112684363	chr1:241573171-241573172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35406129	chr1:241573172-241573173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534224215	chr1:241573174-241573175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569758215	chr1:241573181-241573182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59109151	chr1:241573182-241573183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200662992	chr1:241573183-241573184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560698532	chr1:241573276-241573277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554759870	chr1:241573297-241573298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559049889	chr1:241573305-241573306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577419177	chr1:241573341-241573342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574809941	chr1:241573360-241573361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544791774	chr1:241573377-241573378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2994958	chr1:241573380-241573381	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs144596086	chr1:241573392-241573393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545876051	chr1:241573449-241573450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2994959	chr1:241573522-241573523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560664394	chr1:241573543-241573544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9428505	chr1:241573547-241573548	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs542410757	chr1:241573572-241573573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10802963	chr1:241573656-241573657	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs527993632	chr1:241573670-241573671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563813343	chr1:241573744-241573745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564414796	chr1:241573791-241573792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550147432	chr1:241573816-241573817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Ovarian cancer	21720365	CNVD
Schizophrenia	17989066	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241570000-241574000	Weak transcription	NHLF	lung
2	chr1:241571600-241574200	Weak transcription	Osteobl	bone
3	chr1:241572800-241577000	Enhancers	NHDF-Ad	bronchial
4	chr1:241573600-241577000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:241573800-241574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:241573800-241574200	Enhancers	Gastric	stomach
7	chr1:241573800-241575800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:241574000-241574400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:241574000-241575200	Enhancers	NHLF	lung
10	chr1:241574200-241574400	Enhancers	Osteobl	bone
11	chr1:241574200-241575200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:241574200-241587000	Weak transcription	Gastric	stomach
13	chr1:241574400-241574800	Weak transcription	Osteobl	bone
14	chr1:241574400-241575000	Enhancers	Stomach Mucosa	stomach
15	chr1:241574400-241576000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:241574600-241575000	Enhancers	HUVEC	blood vessel
17	chr1:241574800-241575000	Enhancers	Osteobl	bone
18	chr1:241575000-241576600	Weak transcription	Osteobl	bone
19	chr1:241575200-241576200	Weak transcription	NHLF	lung
20	chr1:241575200-241576600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:241575800-241576800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:241576000-241577200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:241576200-241576600	Enhancers	NHLF	lung
24	chr1:241576600-241576800	Weak transcription	NHLF	lung
25	chr1:241576600-241577400	Enhancers	Osteobl	bone
26	chr1:241576600-241577600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:241576800-241577000	Enhancers	NHLF	lung
28	chr1:241576800-241577600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:241576800-241577600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:241576800-241577600	Enhancers	HMEC	breast
31	chr1:241576800-241577800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:241577000-241577600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:241577000-241577800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:241577000-241578000	Flanking Active TSS	NHDF-Ad	bronchial
35	chr1:241577000-241578000	Flanking Active TSS	NHLF	lung
36	chr1:241577200-241577600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr1:241577200-241577600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:241577200-241577800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:241577400-241577800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links