Variant report

Variant	esv3514401
Chromosome Location	chr1:179349344-179400533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179366133..179368260-chr1:179371106..179373571,2	K562	blood:
2	chr1:179341117..179341930-chr1:179397158..179397756,2	MCF-7	breast:
3	chr1:179366133..179368260-chr1:179371106..179373571,2	K562	blood:
4	chr1:179335021..179336555-chr1:179350332..179352693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162779	chromatin interactions

Extended variants
information (count: 564 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536810460	chr1:179349627-179349628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77750976	chr1:179349645-179349646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576370080	chr1:179349745-179349746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549392868	chr1:179349788-179349789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16854042	chr1:179349843-179349844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs572073949	chr1:179349853-179349854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4255343	chr1:179349955-179349956	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528050581	chr1:179350335-179350336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148799808	chr1:179350396-179350397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12751550	chr1:179350397-179350398	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs536738636	chr1:179350411-179350412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111445797	chr1:179350412-179350413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10913742	chr1:179350423-179350424	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538960507	chr1:179350425-179350426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34030931	chr1:179350479-179350480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58141410	chr1:179350496-179350497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs12129570	chr1:179350499-179350500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12755634	chr1:179350542-179350543	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs71630219	chr1:179350548-179350549	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552979602	chr1:179350564-179350565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs6425538	chr1:179350583-179350584	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs12755804	chr1:179350604-179350605	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs71569245	chr1:179350714-179350715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563493859	chr1:179350715-179350716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577079522	chr1:179350783-179350784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546131030	chr1:179350828-179350829	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540706131	chr1:179350968-179350969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559642104	chr1:179351016-179351017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528375089	chr1:179351065-179351066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61821516	chr1:179351077-179351078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373154354	chr1:179351079-179351080	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs77207624	chr1:179351080-179351081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs71111920	chr1:179351100-179351101	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561512699	chr1:179351101-179351102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530661476	chr1:179351103-179351104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550235409	chr1:179351118-179351119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564456376	chr1:179351120-179351121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532520303	chr1:179351195-179351196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559379283	chr1:179351202-179351203	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190328771	chr1:179351247-179351248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534991421	chr1:179351248-179351249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs6665787	chr1:179351292-179351293	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs543151343	chr1:179351299-179351300	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12743585	chr1:179351342-179351343	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs182256186	chr1:179351347-179351348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs563525531	chr1:179351359-179351360	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs34323172	chr1:179351380-179351381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372754327	chr1:179351383-179351384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs60062096	chr1:179351387-179351388	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546066547	chr1:179351441-179351442	Inactive region	Chromatin interactive region	1 gene(s)	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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Retinoblastoma	19183342	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
Chordoma	18071362	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179349600-179350000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:179352600-179353800	Enhancers	HepG2	liver
3	chr1:179358600-179359400	Enhancers	Ovary	ovary
4	chr1:179366600-179367000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:179367200-179367600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:179367200-179367600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:179367600-179368200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:179367800-179368000	Enhancers	Pancreas	Pancrea
9	chr1:179367800-179368200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:179368000-179368200	ZNF genes & repeats	Pancreas	Pancrea
11	chr1:179386200-179387000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:179387000-179389000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:179389000-179390400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:179391600-179394800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:179393600-179394600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:179394600-179394800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:179396800-179397400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:179398400-179398800	Enhancers	Duodenum Mucosa	Duodenum

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