Variant report

Variant	nsv872968
Chromosome Location	chr1:196652622-196685671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196645088..196647729-chr1:196655612..196658233,2	K562	blood:
2	chr1:196650074..196651729-chr1:196657061..196658986,2	K562	blood:
3	chr1:196650074..196651729-chr1:196657061..196659074,3	K562	blood:

Variant related genes	Relation type
ENSG00000000971	chromatin interactions

Extended variants
information (count: 1518 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs33982697	chr1:196652622-196652623	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528911168	chr1:196652656-196652657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550574865	chr1:196652709-196652710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577533811	chr1:196652716-196652717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533457604	chr1:196652732-196652733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147991521	chr1:196652764-196652765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566772290	chr1:196652799-196652800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534291480	chr1:196652813-196652814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16840422	chr1:196652834-196652835	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567628452	chr1:196652835-196652836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142058409	chr1:196652837-196652838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186405952	chr1:196652874-196652875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556611896	chr1:196652880-196652881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575569341	chr1:196652884-196652885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539744470	chr1:196652911-196652912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544580854	chr1:196652984-196652985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563084416	chr1:196653010-196653011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557977938	chr1:196653011-196653012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569983351	chr1:196653050-196653051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533665689	chr1:196653077-196653078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540305879	chr1:196653135-196653136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557559395	chr1:196653170-196653171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35198449	chr1:196653180-196653181	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560621635	chr1:196653186-196653187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527404919	chr1:196653188-196653189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35462027	chr1:196653288-196653289	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562150206	chr1:196653317-196653318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549064230	chr1:196653350-196653351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533443111	chr1:196653374-196653375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551698215	chr1:196653382-196653383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561022571	chr1:196653427-196653428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560722699	chr1:196653436-196653437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527909418	chr1:196653437-196653438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549574726	chr1:196653485-196653486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567619650	chr1:196653536-196653537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538346097	chr1:196653551-196653552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550148852	chr1:196653564-196653565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189860426	chr1:196653615-196653616	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539733849	chr1:196653648-196653649	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558117061	chr1:196653656-196653657	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202227524	chr1:196653659-196653660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182129516	chr1:196653661-196653662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533716773	chr1:196653678-196653679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555550219	chr1:196653708-196653709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577513407	chr1:196653758-196653759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573610434	chr1:196653769-196653770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543950171	chr1:196653774-196653775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138795187	chr1:196653794-196653795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577254053	chr1:196653799-196653800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375406750	chr1:196653815-196653816	Weak transcription Strong transcription Enhancers	n/a	n/a	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
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
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
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
2	chr1:196629200-196672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:196639200-196657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:196639800-196654200	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
7	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:196640200-196657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:196641400-196665800	Strong transcription	Liver	Liver
10	chr1:196641800-196654800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
12	chr1:196646000-196678400	Weak transcription	K562	blood
13	chr1:196646200-196654800	Weak transcription	Esophagus	oesophagus
14	chr1:196648000-196659200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:196648200-196654200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:196648200-196654200	Weak transcription	Ovary	ovary
17	chr1:196648200-196661200	Weak transcription	NHLF	lung
18	chr1:196648200-196662200	Weak transcription	HSMMtube	muscle
19	chr1:196648200-196666600	Weak transcription	NH-A	brain
20	chr1:196648200-196670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:196649600-196707200	Weak transcription	Osteobl	bone
23	chr1:196650000-196654000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:196650000-196654800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:196650400-196653600	Weak transcription	Dnd41	blood
26	chr1:196651400-196662600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:196651800-196653800	Weak transcription	HSMM	muscle
28	chr1:196652400-196653200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:196653200-196654800	Weak transcription	Fetal Kidney	kidney
30	chr1:196653200-196656800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:196653600-196654000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:196653600-196660600	Strong transcription	Dnd41	blood
33	chr1:196653600-196673600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:196653800-196656600	Strong transcription	HSMM	muscle
35	chr1:196653800-196669600	Weak transcription	Lung	lung
36	chr1:196654000-196655200	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr1:196654200-196655200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:196654200-196655400	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:196654200-196655600	Strong transcription	Ovary	ovary
40	chr1:196654600-196654800	Weak transcription	Left Ventricle	heart
41	chr1:196654800-196655000	ZNF genes & repeats	Esophagus	oesophagus
42	chr1:196654800-196655000	Enhancers	Left Ventricle	heart
43	chr1:196654800-196655200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:196654800-196655400	Strong transcription	Fetal Kidney	kidney
45	chr1:196654800-196655600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:196655000-196659800	Weak transcription	Left Ventricle	heart
47	chr1:196655000-196671600	Weak transcription	Esophagus	oesophagus
48	chr1:196655200-196658600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:196655200-196659200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:196655200-196672200	Weak transcription	Muscle Satellite Cultured Cells	--

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