Variant report

Variant	nsv546932
Chromosome Location	chr1:103355765-103380128
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:103373284..103376255-chr1:103376543..103379257,2	K562	blood:
2	chr1:103373284..103376255-chr1:103376543..103379257,2	K562	blood:

Extended variants
information (count: 978 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1241163	chr1:103355765-103355766	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546564419	chr1:103355766-103355767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534244126	chr1:103355773-103355774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186749898	chr1:103355787-103355788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147883220	chr1:103355806-103355807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190316112	chr1:103355828-103355829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141512250	chr1:103355835-103355836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568159436	chr1:103355882-103355883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112133794	chr1:103355941-103355942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373280926	chr1:103355962-103355963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377662745	chr1:103355994-103355995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs267597897	chr1:103356060-103356061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575546721	chr1:103356066-103356067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35232764	chr1:103356073-103356074	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181904530	chr1:103356081-103356082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397862468	chr1:103356082-103356083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200021369	chr1:103356083-103356084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540185295	chr1:103356093-103356094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11164634	chr1:103356107-103356108	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs370365796	chr1:103356131-103356132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113464509	chr1:103356157-103356158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151074940	chr1:103356160-103356161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1085	chr1:103356168-103356169	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530344867	chr1:103356233-103356234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1841836	chr1:103356236-103356237	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567192611	chr1:103356249-103356250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370157110	chr1:103356329-103356330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182493920	chr1:103356372-103356373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34387815	chr1:103356449-103356450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397718134	chr1:103356455-103356456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558943836	chr1:103356460-103356461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186712344	chr1:103356470-103356471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367568537	chr1:103356472-103356473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140983767	chr1:103356476-103356477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1241164	chr1:103356477-103356478	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575508332	chr1:103356507-103356508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542848700	chr1:103356512-103356513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191134649	chr1:103356521-103356522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573046606	chr1:103356530-103356531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1241165	chr1:103356554-103356555	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183840064	chr1:103356622-103356623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532014601	chr1:103356635-103356636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543882087	chr1:103356637-103356638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562287412	chr1:103356746-103356747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75926220	chr1:103356759-103356760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561892519	chr1:103356785-103356786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191992448	chr1:103356807-103356808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566953341	chr1:103356825-103356826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138558935	chr1:103356855-103356856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183445255	chr1:103356856-103356857	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:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103338400-103369400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:103338800-103357200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:103343400-103355800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:103343400-103356200	Weak transcription	Fetal Heart	heart
5	chr1:103343400-103366000	Weak transcription	Fetal Brain Female	brain
6	chr1:103345600-103385600	Weak transcription	HSMMtube	muscle
7	chr1:103345800-103357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:103346200-103357400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:103346200-103357400	Weak transcription	NH-A	brain
10	chr1:103348200-103357400	Weak transcription	HSMM	muscle
11	chr1:103348200-103357400	Weak transcription	Osteobl	bone
12	chr1:103349800-103356000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:103350000-103369400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:103350400-103380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:103350800-103378600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:103352600-103357600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:103352600-103362400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:103352600-103403200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:103352800-103357400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:103353600-103357200	Weak transcription	HMEC	breast
21	chr1:103353600-103357400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:103354800-103357800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:103354800-103377400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:103355000-103378000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:103355200-103357000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:103355400-103360400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:103356400-103356800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:103357000-103357400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:103357000-103358400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:103357200-103357400	Active TSS	A549	lung
31	chr1:103357200-103358200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:103357200-103358200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:103357200-103358200	Enhancers	HMEC	breast
34	chr1:103357200-103358400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:103357200-103358400	Enhancers	NHDF-Ad	bronchial
36	chr1:103357200-103358600	Enhancers	HUVEC	blood vessel
37	chr1:103357200-103359600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:103357400-103357600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:103357400-103357600	Flanking Active TSS	A549	lung
40	chr1:103357400-103358200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:103357400-103358200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:103357400-103358200	Enhancers	HSMM	muscle
43	chr1:103357400-103358400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:103357400-103358400	Enhancers	NH-A	brain
45	chr1:103357400-103358800	Enhancers	Osteobl	bone
46	chr1:103357400-103359800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:103357600-103357800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:103357600-103357800	Enhancers	A549	lung
49	chr1:103357600-103358400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:103357800-103358000	Enhancers	Muscle Satellite Cultured Cells	--

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