Variant report

Variant	nsv1004868
Chromosome Location	chr1:190259314-190303769
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190266037..190267895-chr1:190270389..190272981,2	K562	blood:
2	chr1:189677420..189678491-chr1:190289916..190290952,3	MCF-7	breast:
3	chr1:190266037..190267895-chr1:190270389..190272981,2	K562	blood:
4	chr1:189398256..189399319-chr1:190290193..190290907,3	MCF-7	breast:
5	chr1:189398752..189399352-chr1:190289866..190290710,2	MCF-7	breast:
6	chr1:190292061..190292926-chr8:96880412..96881301,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-6	chr1:190271833-190271921	ENSG00000225811.1

No data

Extended variants
information (count: 609 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541156922	chr1:190259326-190259327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192657763	chr1:190259347-190259348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533177646	chr1:190259350-190259351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550101261	chr1:190259354-190259355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377354725	chr1:190259359-190259360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562648431	chr1:190259402-190259403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531670631	chr1:190259403-190259404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548182940	chr1:190259411-190259412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568272713	chr1:190259413-190259414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185395064	chr1:190259453-190259454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567937353	chr1:190259467-190259468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570536709	chr1:190259468-190259469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539447139	chr1:190259505-190259506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188261502	chr1:190259538-190259539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556085698	chr1:190259566-190259567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558535265	chr1:190259570-190259571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577121067	chr1:190259600-190259601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370662400	chr1:190259601-190259602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192564175	chr1:190259604-190259605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs480692	chr1:190259661-190259662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572339574	chr1:190259682-190259683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145074092	chr1:190259712-190259713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184748628	chr1:190259724-190259725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115540918	chr1:190259796-190259797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138784833	chr1:190259802-190259803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533478689	chr1:190259812-190259813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188290386	chr1:190259837-190259838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563747068	chr1:190259859-190259860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553199925	chr1:190259877-190259878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149098677	chr1:190259887-190259888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181057906	chr1:190259940-190259941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567393	chr1:190259941-190259942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184299210	chr1:190259944-190259945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536053914	chr1:190259974-190259975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74129270	chr1:190260019-190260020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145783281	chr1:190260024-190260025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374205376	chr1:190260037-190260038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570573369	chr1:190260040-190260041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533090529	chr1:190260045-190260046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549608669	chr1:190260051-190260052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541540202	chr1:190260067-190260068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143128106	chr1:190260105-190260106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556040161	chr1:190260106-190260107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563318846	chr1:190260137-190260138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530391079	chr1:190260149-190260150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12073296	chr1:190260168-190260169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564394473	chr1:190260253-190260254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577811675	chr1:190260255-190260256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114863166	chr1:190260264-190260265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557157525	chr1:190260266-190260267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190249800-190267200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:190264200-190264800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:190284000-190284600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:190284200-190284600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:190284600-190288000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:190288000-190288600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:190294400-190296000	Enhancers	Fetal Heart	heart
8	chr1:190296800-190297200	Active TSS	Fetal Lung	lung
9	chr1:190296800-190298400	Enhancers	Muscle Satellite Cultured Cells	--

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