Variant report

Variant	nsv871147
Chromosome Location	chr1:71484567-71494365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71486485..71490048-chr1:71491402..71493576,3	K562	blood:
2	chr1:71488156..71490050-chr1:71494544..71497230,2	K562	blood:
3	chr1:71493469..71495950-chr1:71496070..71500224,3	K562	blood:
4	chr1:71484257..71486555-chr1:71489083..71490597,2	MCF-7	breast:
5	chr1:71492429..71494900-chr1:71500523..71502933,2	K562	blood:
6	chr1:71492579..71496076-chr1:71511495..71513785,3	K562	blood:
7	chr1:71493019..71494900-chr1:71500523..71502505,2	K562	blood:
8	chr1:71128661..71130608-chr1:71489552..71491952,2	K562	blood:
9	chr1:71486485..71490048-chr1:71491402..71493576,3	K562	blood:
10	chr1:71488605..71491550-chr1:71545533..71547496,2	K562	blood:
11	chr1:71484257..71486555-chr1:71489083..71490597,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-13	chr1:71489270-71489329	NONHSAT003876
2	lnc-CTH-13	chr1:71489933-71490390	NONHSAT003876

No data

Variant related genes	Relation type
ENSG00000229956	chromatin interactions
ENSG00000132485	chromatin interactions
ENSG00000050628	chromatin interactions

Extended variants
information (count: 392 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:392 , 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	rs2744918	chr1:71484567-71484568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571285343	chr1:71484607-71484608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141847446	chr1:71484625-71484626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200424087	chr1:71484649-71484650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547414796	chr1:71484651-71484652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146051152	chr1:71484681-71484682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549646951	chr1:71484705-71484706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536264091	chr1:71484785-71484786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556453080	chr1:71484931-71484932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570949422	chr1:71484943-71484944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576281475	chr1:71485001-71485002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538241025	chr1:71485019-71485020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538794471	chr1:71485026-71485027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2268060	chr1:71485036-71485037	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs572054924	chr1:71485054-71485055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181549237	chr1:71485058-71485059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2268061	chr1:71485059-71485060	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs560102991	chr1:71485077-71485078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573657380	chr1:71485093-71485094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542615061	chr1:71485100-71485101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555702986	chr1:71485119-71485120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184849186	chr1:71485147-71485148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140078562	chr1:71485158-71485159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545562994	chr1:71485165-71485166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565388022	chr1:71485255-71485256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527373195	chr1:71485297-71485298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2268062	chr1:71485299-71485300	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs143651809	chr1:71485307-71485308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556556758	chr1:71485335-71485336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80143560	chr1:71485411-71485412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1569593	chr1:71485414-71485415	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189269238	chr1:71485416-71485417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558712484	chr1:71485437-71485438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578104837	chr1:71485500-71485501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565773694	chr1:71485517-71485518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116175394	chr1:71485624-71485625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181788676	chr1:71485636-71485637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1008484	chr1:71485655-71485656	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542577660	chr1:71485685-71485686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556315662	chr1:71485687-71485688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576672468	chr1:71485689-71485690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527802014	chr1:71485710-71485711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545420200	chr1:71485715-71485716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572689090	chr1:71485727-71485728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545233859	chr1:71485729-71485730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61778876	chr1:71485734-71485735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527840711	chr1:71485773-71485774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2300169	chr1:71485833-71485834	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs560932466	chr1:71485843-71485844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143130720	chr1:71485852-71485853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Melanoma	17363583	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
small cell lung cancer	20016488	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Cancer	20164920	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71465800-71485000	Weak transcription	Pancreas	Pancrea
2	chr1:71481800-71501000	Weak transcription	K562	blood
3	chr1:71483800-71486800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:71483800-71491400	Weak transcription	Aorta	Aorta
5	chr1:71484000-71485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:71484400-71485000	Enhancers	Fetal Brain Male	brain
7	chr1:71484400-71485800	Enhancers	Adipose Nuclei	Adipose
8	chr1:71484400-71486000	Enhancers	Fetal Heart	heart
9	chr1:71484600-71485200	Enhancers	Fetal Brain Female	brain
10	chr1:71484800-71485400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:71485000-71485200	Enhancers	Pancreas	Pancrea
12	chr1:71485000-71487000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:71485800-71494000	Weak transcription	Adipose Nuclei	Adipose
14	chr1:71486000-71486400	Weak transcription	Fetal Heart	heart
15	chr1:71486400-71486600	Enhancers	Fetal Heart	heart
16	chr1:71486600-71488000	Weak transcription	Fetal Heart	heart
17	chr1:71486800-71487200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:71487000-71491200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:71487200-71495200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:71488000-71488600	Enhancers	Fetal Heart	heart
21	chr1:71489600-71493800	Weak transcription	NHDF-Ad	bronchial
22	chr1:71491200-71491800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:71491400-71491600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:71491400-71491800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:71491400-71492000	Enhancers	Aorta	Aorta
26	chr1:71491800-71494400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:71492000-71493800	Weak transcription	Aorta	Aorta
28	chr1:71492600-71492800	Enhancers	Gastric	stomach
29	chr1:71492800-71504400	Weak transcription	Gastric	stomach
30	chr1:71493800-71494400	Active TSS	Aorta	Aorta
31	chr1:71493800-71494400	Active TSS	NHDF-Ad	bronchial
32	chr1:71494000-71494400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:71494000-71494400	Enhancers	Adipose Nuclei	Adipose

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