Variant report

Variant	esv3387440
Chromosome Location	chr1:169226078-169243976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 592 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:592 , 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	rs539117491	chr1:169226092-169226093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370042576	chr1:169226113-169226114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557445007	chr1:169226115-169226116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572462496	chr1:169226212-169226213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6692824	chr1:169226218-169226219	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs540222766	chr1:169226256-169226257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561572460	chr1:169226267-169226268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377467742	chr1:169226290-169226291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184877907	chr1:169226295-169226296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544608852	chr1:169226300-169226301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563044454	chr1:169226327-169226328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533583506	chr1:169226365-169226366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551859466	chr1:169226383-169226384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567571205	chr1:169226400-169226401	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs60855685	chr1:169226404-169226405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527828705	chr1:169226417-169226418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549348159	chr1:169226429-169226430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146313196	chr1:169226441-169226442	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6695674	chr1:169226448-169226449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs550481371	chr1:169226459-169226460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568673649	chr1:169226483-169226484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566132164	chr1:169226501-169226502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557581536	chr1:169226507-169226508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141302768	chr1:169226527-169226528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181376124	chr1:169226529-169226530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112001647	chr1:169226546-169226547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7548520	chr1:169226559-169226560	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376191829	chr1:169226560-169226561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115981374	chr1:169226572-169226573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116388792	chr1:169226574-169226575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545615371	chr1:169226597-169226598	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34369716	chr1:169226598-169226599	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186634782	chr1:169226638-169226639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370463106	chr1:169226640-169226641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549237081	chr1:169226650-169226651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12405185	chr1:169226676-169226677	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs35762400	chr1:169226683-169226684	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34962461	chr1:169226692-169226693	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568811139	chr1:169226708-169226709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10919114	chr1:169226727-169226728	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs10919115	chr1:169226736-169226737	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs34794230	chr1:169226740-169226741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34147690	chr1:169226755-169226756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533859880	chr1:169226766-169226767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555186863	chr1:169226769-169226770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567213233	chr1:169226792-169226793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537843515	chr1:169226793-169226794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369563743	chr1:169226809-169226810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113415358	chr1:169226828-169226829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372909393	chr1:169226887-169226888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	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
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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:169219000-169226400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:169219400-169227000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:169220000-169229800	Weak transcription	HUVEC	blood vessel
5	chr1:169220600-169230000	Weak transcription	Liver	Liver
6	chr1:169224800-169227400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:169225000-169227000	Weak transcription	Fetal Kidney	kidney
8	chr1:169225000-169229800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:169225400-169227000	Weak transcription	Primary B cells from cord blood	blood
10	chr1:169226400-169227400	ZNF genes & repeats	Fetal Stomach	stomach
11	chr1:169226400-169227600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:169226400-169227600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:169226400-169227600	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr1:169226800-169228200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:169227000-169227600	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr1:169227000-169227600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:169227000-169227600	Strong transcription	Fetal Kidney	kidney
18	chr1:169227000-169228400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:169227200-169227400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:169227200-169227600	ZNF genes & repeats	Fetal Intestine Large	intestine
21	chr1:169227200-169227800	ZNF genes & repeats	Fetal Lung	lung
22	chr1:169227200-169227800	Weak transcription	Lung	lung
23	chr1:169227200-169228200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
24	chr1:169227200-169231200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:169227400-169227600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:169227600-169231000	Weak transcription	Primary B cells from cord blood	blood
27	chr1:169227600-169231800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:169227600-169233000	Weak transcription	Fetal Kidney	kidney
29	chr1:169227600-169257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:169228200-169228400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:169228200-169229800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:169228400-169230400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:169228400-169230600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:169228400-169230800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:169228400-169231000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:169228400-169257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:169228600-169229200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:169229000-169230200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:169229000-169233000	Weak transcription	Brain Angular Gyrus	brain
40	chr1:169229200-169230400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:169229800-169230200	ZNF genes & repeats	Fetal Brain Female	brain
42	chr1:169229800-169230400	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:169229800-169230400	Strong transcription	HUVEC	blood vessel
44	chr1:169229800-169232000	Strong transcription	Primary T cells from cord blood	blood
45	chr1:169229800-169232000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
46	chr1:169230400-169230800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:169230400-169232200	Weak transcription	HUVEC	blood vessel
48	chr1:169230400-169235400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:169230600-169231200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr1:169230800-169231000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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