Variant report

Variant	nsv945523
Chromosome Location	chr1:195561264-195567916
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	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:
2	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373284854	chr1:195561283-195561284	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534597918	chr1:195561333-195561334	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563522315	chr1:195561358-195561359	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377611355	chr1:195561365-195561366	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531342474	chr1:195561404-195561405	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543107729	chr1:195561405-195561406	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116295243	chr1:195561422-195561423	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553030465	chr1:195561458-195561459	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532030007	chr1:195561485-195561486	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568343970	chr1:195561501-195561502	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535710102	chr1:195561520-195561521	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557242085	chr1:195561533-195561534	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547343469	chr1:195561732-195561733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189219409	chr1:195561747-195561748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79628004	chr1:195561770-195561771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370690368	chr1:195561779-195561780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2773452	chr1:195561800-195561801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111468540	chr1:195561804-195561805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537196060	chr1:195561805-195561806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552713456	chr1:195561823-195561824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12406662	chr1:195561843-195561844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534730141	chr1:195561869-195561870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181056471	chr1:195561927-195561928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575063466	chr1:195561928-195561929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142330014	chr1:195561980-195561981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535735559	chr1:195561987-195561988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145683347	chr1:195562015-195562016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575445264	chr1:195562030-195562031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2790084	chr1:195562043-195562044	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115265584	chr1:195562050-195562051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374172728	chr1:195562055-195562056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576955655	chr1:195562095-195562096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185943483	chr1:195562125-195562126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73068338	chr1:195562138-195562139	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117835659	chr1:195562173-195562174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529991178	chr1:195562211-195562212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548506454	chr1:195562216-195562217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192418596	chr1:195562217-195562218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183263653	chr1:195562222-195562223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541014038	chr1:195562272-195562273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552372350	chr1:195562299-195562300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559289763	chr1:195562340-195562341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2790085	chr1:195562355-195562356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546716325	chr1:195562392-195562393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75141775	chr1:195562417-195562418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544849946	chr1:195562441-195562442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186175646	chr1:195562462-195562463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138285031	chr1:195562468-195562469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575507077	chr1:195562478-195562479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114434292	chr1:195562504-195562505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195559600-195561400	Enhancers	NH-A	brain
2	chr1:195559800-195561600	Enhancers	Hela-S3	cervix
3	chr1:195559800-195562000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:195560200-195562800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:195560400-195562000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:195560600-195562000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:195560600-195562000	Enhancers	NHEK	skin
8	chr1:195560800-195562400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:195561000-195561400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:195561000-195561400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:195561000-195562200	Weak transcription	NHDF-Ad	bronchial
12	chr1:195561200-195561600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:195561200-195561600	Enhancers	A549	lung
14	chr1:195561800-195563200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:195562000-195562800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:195562200-195562600	Enhancers	HMEC	breast
17	chr1:195562200-195562800	Enhancers	NHDF-Ad	bronchial
18	chr1:195562400-195562600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:195562600-195562800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:195562600-195562800	Enhancers	Colonic Mucosa	Colon
21	chr1:195562800-195563200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:195563200-195563600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr1:195563200-195564400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:195563400-195563800	Active TSS	Colonic Mucosa	Colon
25	chr1:195563400-195564000	Active TSS	Rectal Smooth Muscle	rectum
26	chr1:195563600-195564000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links