Variant report

Variant	esv1792035
Chromosome Location	chr1:196646261-196655743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000000971	chromatin interactions

Extended variants
information (count: 391 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572515	chr1:196646261-196646262	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573049733	chr1:196646275-196646276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55766805	chr1:196646286-196646287	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56143265	chr1:196646291-196646292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553436267	chr1:196646311-196646312	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561746113	chr1:196646318-196646319	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528938670	chr1:196646333-196646334	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573233445	chr1:196646343-196646344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114487092	chr1:196646354-196646355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1329423	chr1:196646387-196646388	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34050381	chr1:196646389-196646390	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532800183	chr1:196646390-196646391	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192050351	chr1:196646447-196646448	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566796904	chr1:196646448-196646449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201640904	chr1:196646531-196646532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3766403	chr1:196646562-196646563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201165888	chr1:196646566-196646567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184188486	chr1:196646592-196646593	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374314001	chr1:196646593-196646594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368004833	chr1:196646594-196646595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200757272	chr1:196646601-196646602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143609884	chr1:196646608-196646609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112293603	chr1:196646611-196646612	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138800544	chr1:196646624-196646625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149364107	chr1:196646634-196646635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141852866	chr1:196646650-196646651	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146147358	chr1:196646651-196646652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370640334	chr1:196646654-196646655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34940854	chr1:196646655-196646656	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200751706	chr1:196646698-196646699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139360826	chr1:196646702-196646703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539060063	chr1:196646707-196646708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189411907	chr1:196646708-196646709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs121913054	chr1:196646743-196646744	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573136624	chr1:196646760-196646761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147638219	chr1:196646779-196646780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146159006	chr1:196646780-196646781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201879395	chr1:196646806-196646807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367837226	chr1:196646807-196646808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376680152	chr1:196646844-196646845	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs55937593	chr1:196646869-196646870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555536277	chr1:196646881-196646882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573797091	chr1:196646886-196646887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544280097	chr1:196646894-196646895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572850328	chr1:196646925-196646926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562473998	chr1:196646937-196646938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532885627	chr1:196646977-196646978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55720813	chr1:196646993-196646994	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559725896	chr1:196646997-196646998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369213054	chr1:196647003-196647004	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:104 , 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	chr1:196630200-196646400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:196637200-196646800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:196639200-196647800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:196639200-196647800	Weak transcription	Ovary	ovary
7	chr1:196639200-196650000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:196639200-196657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:196639600-196647800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:196639800-196654200	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
13	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:196640200-196657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:196640800-196647000	Weak transcription	NH-A	brain
16	chr1:196641000-196650400	Strong transcription	Dnd41	blood
17	chr1:196641400-196665800	Strong transcription	Liver	Liver
18	chr1:196641800-196654800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:196642000-196652400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
21	chr1:196642200-196647000	Strong transcription	HSMM	muscle
22	chr1:196642600-196647000	Weak transcription	Osteobl	bone
23	chr1:196643400-196646800	Weak transcription	NHLF	lung
24	chr1:196644400-196647800	Weak transcription	HUVEC	blood vessel
25	chr1:196644400-196648200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:196645600-196647000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:196646000-196678400	Weak transcription	K562	blood
28	chr1:196646200-196654800	Weak transcription	Esophagus	oesophagus
29	chr1:196646600-196648200	Enhancers	NHDF-Ad	bronchial
30	chr1:196646600-196648400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:196646800-196648200	Enhancers	NHLF	lung
32	chr1:196646800-196648400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:196647000-196647200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:196647000-196647800	Enhancers	NH-A	brain
35	chr1:196647000-196648200	Genic enhancers	HSMM	muscle
36	chr1:196647000-196648200	Enhancers	Osteobl	bone
37	chr1:196647000-196649600	Enhancers	HMEC	breast
38	chr1:196647200-196649000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:196647200-196650000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:196647800-196648000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:196647800-196648200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:196647800-196648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:196647800-196648200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:196647800-196648200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:196647800-196648200	Strong transcription	Ovary	ovary
46	chr1:196647800-196648200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr1:196647800-196648200	Flanking Active TSS	NH-A	brain
48	chr1:196647800-196648400	Enhancers	HUVEC	blood vessel
49	chr1:196647800-196648400	Enhancers	NHEK	skin
50	chr1:196647800-196649200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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