Variant report

Variant	nsv947496
Chromosome Location	chr1:91918272-91938103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 364 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:364 , 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	rs565519838	chr1:91918303-91918304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576970360	chr1:91918331-91918332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541128780	chr1:91918344-91918345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373952507	chr1:91918466-91918467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201011228	chr1:91918481-91918482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61659246	chr1:91918506-91918507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570013669	chr1:91918515-91918516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559056954	chr1:91918525-91918526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369574276	chr1:91918618-91918619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs397864003	chr1:91918626-91918627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529706618	chr1:91918674-91918675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541491352	chr1:91918682-91918683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552267164	chr1:91918696-91918697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563598183	chr1:91918745-91918746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566098861	chr1:91918766-91918767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530757714	chr1:91918781-91918782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79218631	chr1:91918831-91918832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552048272	chr1:91918873-91918874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535031259	chr1:91918875-91918876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570317642	chr1:91918878-91918879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565326839	chr1:91918955-91918956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs207460292	chr1:91918975-91918976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79452810	chr1:91919051-91919052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12060889	chr1:91919058-91919059	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs186402886	chr1:91919065-91919066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567920351	chr1:91919136-91919137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7542806	chr1:91919225-91919226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs535368127	chr1:91919276-91919277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570353993	chr1:91919290-91919291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7535665	chr1:91919292-91919293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs559143052	chr1:91919321-91919322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577532848	chr1:91919322-91919323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149565767	chr1:91919337-91919338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553012522	chr1:91919355-91919356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7526693	chr1:91919358-91919359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs72952982	chr1:91919384-91919385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs516462	chr1:91919413-91919414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs145024818	chr1:91919434-91919435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190028826	chr1:91919439-91919440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7526795	chr1:91919440-91919441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs13373992	chr1:91919443-91919444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528255625	chr1:91919458-91919459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7543080	chr1:91919517-91919518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs566160375	chr1:91919520-91919521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371082085	chr1:91919527-91919528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7540260	chr1:91919533-91919534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs80159576	chr1:91919545-91919546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79585584	chr1:91919546-91919547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142073025	chr1:91919553-91919554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7526972	chr1:91919578-91919579	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91915600-91920000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:91916000-91919000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:91916000-91919400	Weak transcription	Fetal Stomach	stomach
4	chr1:91916000-91919600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:91916400-91920800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:91918200-91919200	Weak transcription	Fetal Kidney	kidney
7	chr1:91918800-91919000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:91919000-91921600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:91919000-91921600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:91919200-91920200	Enhancers	Fetal Kidney	kidney
11	chr1:91919400-91921200	Enhancers	Fetal Stomach	stomach
12	chr1:91919600-91920200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:91920200-91920400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:91920200-91921400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:91920200-91921600	Weak transcription	Fetal Kidney	kidney
16	chr1:91921400-91921600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:91921600-91922000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:91921600-91923200	Active TSS	Fetal Kidney	kidney
19	chr1:91922000-91922600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr1:91922000-91923400	Enhancers	Fetal Intestine Large	intestine
21	chr1:91922200-91924200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:91923000-91923200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr1:91923400-91923600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:91923400-91924400	Weak transcription	Fetal Intestine Large	intestine
25	chr1:91924600-91924800	Enhancers	Fetal Intestine Large	intestine
26	chr1:91931000-91933200	Enhancers	Placenta	Placenta

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