Variant report

Variant	nsv523508
Chromosome Location	chr1:84310193-84314754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12134669	chr1:84310193-84310194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146607605	chr1:84310218-84310219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115965389	chr1:84310238-84310239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551473814	chr1:84310298-84310299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187742890	chr1:84310360-84310361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531136986	chr1:84310417-84310418	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367617869	chr1:84310418-84310419	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372803403	chr1:84310443-84310444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6690239	chr1:84310451-84310452	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111500464	chr1:84310452-84310453	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547293687	chr1:84310478-84310479	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143309907	chr1:84310483-84310484	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538606083	chr1:84310554-84310555	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558631355	chr1:84310567-84310568	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575205512	chr1:84310573-84310574	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192610348	chr1:84310627-84310628	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151243263	chr1:84310629-84310630	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574269417	chr1:84310631-84310632	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34831414	chr1:84310639-84310640	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12079029	chr1:84310640-84310641	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369678015	chr1:84310671-84310672	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559980360	chr1:84310695-84310696	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572910073	chr1:84310700-84310701	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185099169	chr1:84310726-84310727	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544955275	chr1:84310752-84310753	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150129527	chr1:84310760-84310761	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76401406	chr1:84310767-84310768	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530948897	chr1:84310775-84310776	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71806296	chr1:84310778-84310779	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201304797	chr1:84310793-84310794	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs66660738	chr1:84310796-84310797	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12134866	chr1:84310797-84310798	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150407457	chr1:84310838-84310839	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112122860	chr1:84310848-84310849	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547335381	chr1:84310857-84310858	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12744687	chr1:84310896-84310897	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550636395	chr1:84310950-84310951	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76919741	chr1:84310971-84310972	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551923951	chr1:84310978-84310979	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115787431	chr1:84310984-84310985	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574409149	chr1:84311023-84311024	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138889487	chr1:84311078-84311079	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188513759	chr1:84311138-84311139	Flanking Active TSS Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567929232	chr1:84311208-84311209	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533698482	chr1:84311212-84311213	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72954450	chr1:84311260-84311261	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576773713	chr1:84311266-84311267	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546069496	chr1:84311313-84311314	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373410924	chr1:84311344-84311345	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539248734	chr1:84311361-84311362	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84281400-84316600	Weak transcription	Pancreas	Pancrea
2	chr1:84295400-84310200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:84297600-84313000	Weak transcription	Aorta	Aorta
4	chr1:84301800-84310200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:84306000-84310800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:84306000-84311200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:84307600-84310400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:84308000-84310800	Weak transcription	Liver	Liver
9	chr1:84309400-84310400	Weak transcription	Primary T cells from cord blood	blood
10	chr1:84310200-84311200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:84310200-84311200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:84310400-84310800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr1:84310400-84311400	Strong transcription	Primary T cells from cord blood	blood
14	chr1:84310800-84311000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:84310800-84312200	Enhancers	Liver	Liver
16	chr1:84310800-84312200	Enhancers	Fetal Intestine Small	intestine
17	chr1:84310800-84324400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:84311000-84311200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:84311000-84311200	Enhancers	Small Intestine	intestine
20	chr1:84311000-84311400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:84311000-84311800	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:84311000-84312200	Enhancers	Adipose Nuclei	Adipose
23	chr1:84311000-84314200	Enhancers	Fetal Intestine Large	intestine
24	chr1:84311200-84311400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:84311200-84312200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:84311200-84315200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:84311200-84315600	Weak transcription	Small Intestine	intestine
28	chr1:84311200-84321200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:84311400-84311800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:84311400-84311800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:84311400-84312000	Enhancers	Brain Germinal Matrix	brain
32	chr1:84311400-84323800	Weak transcription	Primary T cells from cord blood	blood
33	chr1:84311600-84312000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:84311600-84312000	Enhancers	NHDF-Ad	bronchial
35	chr1:84311800-84312000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:84311800-84312200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:84311800-84312400	Enhancers	Fetal Brain Female	brain
38	chr1:84311800-84316400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:84312200-84312600	Enhancers	Fetal Brain Male	brain
40	chr1:84312200-84313400	Weak transcription	Fetal Intestine Small	intestine
41	chr1:84312200-84316000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:84312200-84316400	Weak transcription	Liver	Liver
43	chr1:84312400-84322600	Weak transcription	Fetal Brain Female	brain
44	chr1:84312600-84315400	Weak transcription	Fetal Brain Male	brain
45	chr1:84313400-84314400	Enhancers	Fetal Intestine Small	intestine
46	chr1:84314200-84316000	Weak transcription	Fetal Intestine Large	intestine
47	chr1:84314400-84316000	Weak transcription	Fetal Intestine Small	intestine

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