Variant report

Variant	esv1835970
Chromosome Location	chr1:103481299-103510756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1250 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80127346	chr1:103481299-103481300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs960021	chr1:103481319-103481320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199561716	chr1:103481347-103481348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138397032	chr1:103481373-103481374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558950009	chr1:103481431-103481432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577272081	chr1:103481434-103481435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538385146	chr1:103481435-103481436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556374945	chr1:103481448-103481449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183269708	chr1:103481494-103481495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542391675	chr1:103481510-103481511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186887711	chr1:103481522-103481523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112596718	chr1:103481524-103481525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191349967	chr1:103481583-103481584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564939750	chr1:103481699-103481700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72987805	chr1:103481711-103481712	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550684280	chr1:103481756-103481757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562203058	chr1:103481760-103481761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562418518	chr1:103481762-103481763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3056924	chr1:103481817-103481818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75709085	chr1:103481820-103481821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530336059	chr1:103481932-103481933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548763882	chr1:103481938-103481939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567178014	chr1:103481953-103481954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34110240	chr1:103482044-103482045	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552903497	chr1:103482054-103482055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116212958	chr1:103482062-103482063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560426295	chr1:103482163-103482164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537838713	chr1:103482302-103482303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201041212	chr1:103482307-103482308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376439918	chr1:103482327-103482328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556646141	chr1:103482356-103482357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371014573	chr1:103482362-103482363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149240322	chr1:103482364-103482365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536058820	chr1:103482447-103482448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554304563	chr1:103482488-103482489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572696972	chr1:103482520-103482521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11164656	chr1:103482614-103482615	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558555787	chr1:103482663-103482664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185033236	chr1:103482686-103482687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543831533	chr1:103482690-103482691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562616378	chr1:103482743-103482744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187943920	chr1:103482748-103482749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553221144	chr1:103482792-103482793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193201882	chr1:103482803-103482804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77729494	chr1:103482820-103482821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527881637	chr1:103482916-103482917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114005540	chr1:103482930-103482931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185188036	chr1:103482932-103482933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188798469	chr1:103482934-103482935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549874568	chr1:103482939-103482940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103369600-103498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:103386200-103482000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:103415800-103485200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:103446800-103497800	Weak transcription	HSMM	muscle
5	chr1:103449200-103545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:103453400-103490000	Weak transcription	NH-A	brain
7	chr1:103460200-103516400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:103469800-103486600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:103471400-103486600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:103474800-103483600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:103475800-103516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:103476200-103486800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:103477600-103484800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:103479400-103487000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:103480600-103483200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:103483000-103484000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:103483200-103485200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:103484000-103484600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:103484600-103484800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:103484800-103486600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:103485200-103486800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:103485200-103487000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:103486600-103487600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:103486600-103489200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:103486600-103491800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:103486800-103489600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:103486800-103491200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:103487000-103491600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:103487000-103492200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:103487600-103493600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:103488000-103490800	Weak transcription	Brain Germinal Matrix	brain
32	chr1:103489200-103516400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:103489600-103506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:103490000-103491600	Strong transcription	NH-A	brain
35	chr1:103490800-103491200	Enhancers	Brain Germinal Matrix	brain
36	chr1:103491200-103491600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:103491200-103492400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:103491400-103492000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:103491400-103492000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:103491600-103491800	Enhancers	Brain Hippocampus Middle	brain
41	chr1:103491600-103491800	Active TSS	Brain Substantia Nigra	brain
42	chr1:103491600-103492000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:103491600-103492000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:103491600-103503800	Weak transcription	NH-A	brain
45	chr1:103491800-103492600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:103492000-103496400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:103492200-103493000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:103492400-103497200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:103492600-103493800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:103493000-103494000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links