Variant report

Variant	esv2830089
Chromosome Location	chr1:103615938-103670474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2118 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2118 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574553235	chr1:103621804-103621805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563187562	chr1:103621805-103621806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35762095	chr1:103621813-103621814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577070729	chr1:103621854-103621855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115400250	chr1:103621900-103621901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190386269	chr1:103621929-103621930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144690947	chr1:103621936-103621937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527345860	chr1:103621938-103621939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386634056	chr1:103621940-103621941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10554950	chr1:103621948-103621949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143723568	chr1:103621950-103621951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141771782	chr1:103621951-103621952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377722443	chr1:103621965-103621966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183487345	chr1:103621971-103621972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150743607	chr1:103622057-103622058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544696244	chr1:103622061-103622062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78586112	chr1:103622075-103622076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374227341	chr1:103622087-103622088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188100241	chr1:103622097-103622098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3850460	chr1:103622106-103622107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529477378	chr1:103622109-103622110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3861744	chr1:103622234-103622235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139882448	chr1:103622254-103622255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539850478	chr1:103622268-103622269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149813777	chr1:103622298-103622299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72989892	chr1:103622304-103622305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369096520	chr1:103622322-103622323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555814806	chr1:103622349-103622350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574588496	chr1:103622358-103622359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145874932	chr1:103622411-103622412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553787492	chr1:103622423-103622424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201628614	chr1:103622463-103622464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11422889	chr1:103622465-103622466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397770124	chr1:103622466-103622467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7515978	chr1:103622477-103622478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs367746375	chr1:103622506-103622507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6577361	chr1:103622512-103622513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183448970	chr1:103622537-103622538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186753112	chr1:103622541-103622542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs67698911	chr1:103622558-103622559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561818412	chr1:103622559-103622560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191543765	chr1:103622597-103622598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547929328	chr1:103622647-103622648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566258743	chr1:103622662-103622663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148226144	chr1:103622698-103622699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7518542	chr1:103622719-103622720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs139744894	chr1:103622876-103622877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144486795	chr1:103622877-103622878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530880503	chr1:103622888-103622889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184799809	chr1:103622909-103622910	Enhancers Weak 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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103621800-103623200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:103622200-103622800	Enhancers	HSMMtube	muscle
3	chr1:103622400-103622800	Enhancers	HSMM	muscle
4	chr1:103622600-103623000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:103622800-103625800	Weak transcription	HSMMtube	muscle
6	chr1:103622800-103626000	Weak transcription	HSMM	muscle
7	chr1:103625800-103626400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:103625800-103626400	Enhancers	HSMMtube	muscle
9	chr1:103626000-103626400	Enhancers	HSMM	muscle
10	chr1:103627800-103628400	Enhancers	Dnd41	blood
11	chr1:103627800-103628600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:103628600-103636400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:103636400-103636800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:103636400-103637000	Enhancers	HSMM	muscle
15	chr1:103636400-103637000	Enhancers	HSMMtube	muscle
16	chr1:103636400-103637200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:103636400-103637200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:103636400-103637600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:103636400-103637600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:103637200-103646000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:103637600-103641200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:103641200-103644000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:103643800-103644400	Enhancers	A549	lung
24	chr1:103644000-103646200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:103644400-103646400	Weak transcription	A549	lung
26	chr1:103646000-103646600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:103646000-103647200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:103646000-103647200	Enhancers	HSMM	muscle
29	chr1:103646000-103647200	Enhancers	NH-A	brain
30	chr1:103646000-103647400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:103646000-103647400	Enhancers	Fetal Heart	heart
32	chr1:103646200-103646600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:103646200-103646600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:103646200-103646600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:103646200-103646600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:103646200-103646600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:103646200-103646600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:103646400-103646800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:103646400-103646800	Active TSS	A549	lung
40	chr1:103646800-103647200	Enhancers	A549	lung
41	chr1:103647200-103659400	Weak transcription	HSMM	muscle
42	chr1:103647400-103647600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:103654800-103656400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:103656400-103656800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:103656600-103657000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:103656600-103657000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr1:103656600-103657200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:103656600-103657400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:103656800-103657000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:103656800-103657200	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links