Variant report

Variant	nsv462583
Chromosome Location	chr1:98554409-98645213
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:98569136..98572043-chr1:98573208..98575634,2	K562	blood:
2	chr1:98622786..98625310-chr1:98627256..98629352,2	K562	blood:
3	chr1:98622786..98625310-chr1:98627256..98629352,2	K562	blood:
4	chr1:98608310..98608868-chr17:58754500..58755109,2	MCF-7	breast:
5	chr1:98569136..98572043-chr1:98573208..98575634,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNX7-5	chr1:98596254-98596350	NONHSAT004742
2	lnc-SNX7-5	chr1:98596970-98597419	NONHSAT004742

No data

Variant related genes	Relation type
ENSG00000141376	chromatin interactions

Extended variants
information (count: 3076 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3076 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7549825	chr1:98554409-98554410	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373015252	chr1:98554499-98554500	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540143758	chr1:98554500-98554501	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190558569	chr1:98554534-98554535	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529183716	chr1:98554597-98554598	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564588921	chr1:98554679-98554680	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs578008173	chr1:98554732-98554733	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs182808241	chr1:98554738-98554739	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs142620321	chr1:98554825-98554826	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs187131132	chr1:98554834-98554835	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376946141	chr1:98554835-98554836	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571060691	chr1:98554867-98554868	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs28687323	chr1:98554872-98554873	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs369289080	chr1:98554897-98554898	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539999630	chr1:98554995-98554996	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs77979709	chr1:98555042-98555043	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs190036050	chr1:98555132-98555133	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146822207	chr1:98555135-98555136	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs555084206	chr1:98555180-98555181	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540741233	chr1:98555199-98555200	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575148893	chr1:98555201-98555202	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537548414	chr1:98555228-98555229	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557387603	chr1:98555287-98555288	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577307671	chr1:98555293-98555294	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560076694	chr1:98555320-98555321	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373648332	chr1:98555332-98555333	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs182591502	chr1:98555350-98555351	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548863817	chr1:98555357-98555358	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs545667881	chr1:98555363-98555364	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370136924	chr1:98555381-98555382	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs542875244	chr1:98555421-98555422	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs147327705	chr1:98555432-98555433	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561965066	chr1:98555479-98555480	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187721562	chr1:98555492-98555493	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs544728486	chr1:98555512-98555513	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564612006	chr1:98555549-98555550	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs1622611	chr1:98555553-98555554	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs80141543	chr1:98555601-98555602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74995730	chr1:98555605-98555606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61786702	chr1:98555623-98555624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78549742	chr1:98555626-98555627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376391261	chr1:98555669-98555670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139264117	chr1:98555684-98555685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567019405	chr1:98555695-98555696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531520702	chr1:98555711-98555712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529580168	chr1:98555730-98555731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs5776395	chr1:98555753-98555754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549605698	chr1:98555861-98555862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564466506	chr1:98555910-98555911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568518773	chr1:98555994-98555995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98549000-98561800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:98549400-98569400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:98550000-98554800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:98552600-98555600	Flanking Active TSS	HUVEC	blood vessel
5	chr1:98553200-98555800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:98553200-98556000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:98553200-98560400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:98553200-98569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:98553400-98555800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:98553400-98555800	Weak transcription	NHDF-Ad	bronchial
11	chr1:98553400-98556000	Weak transcription	NHLF	lung
12	chr1:98553600-98567800	Weak transcription	HSMM	muscle
13	chr1:98553600-98567800	Weak transcription	NH-A	brain
14	chr1:98553800-98555000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:98554000-98555000	Active TSS	A549	lung
16	chr1:98554200-98555800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:98555000-98556000	Weak transcription	A549	lung
18	chr1:98555600-98556000	Enhancers	HUVEC	blood vessel
19	chr1:98555800-98556200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:98555800-98557000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:98555800-98557000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:98555800-98557000	Enhancers	NHDF-Ad	bronchial
23	chr1:98556000-98556800	Enhancers	A549	lung
24	chr1:98556000-98556800	Enhancers	NHLF	lung
25	chr1:98556000-98557000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:98556000-98566400	Weak transcription	HUVEC	blood vessel
27	chr1:98556800-98564000	Weak transcription	A549	lung
28	chr1:98557000-98564800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:98559000-98560600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:98560000-98560400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:98560400-98560600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:98560400-98561200	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr1:98560400-98567600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:98560600-98561000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:98560600-98563200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:98560600-98569400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:98561800-98562400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:98562400-98569600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:98563200-98564200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:98563400-98564600	Enhancers	Dnd41	blood
41	chr1:98563600-98564000	Enhancers	Fetal Brain Female	brain
42	chr1:98563800-98564600	Enhancers	Fetal Brain Male	brain
43	chr1:98564000-98564800	Enhancers	A549	lung
44	chr1:98564000-98566000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:98564000-98566400	Weak transcription	Fetal Brain Female	brain
46	chr1:98564200-98564600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:98564600-98564800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:98564600-98565800	Enhancers	NHDF-Ad	bronchial
49	chr1:98564600-98567800	Weak transcription	Fetal Brain Male	brain
50	chr1:98564800-98565200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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