Variant report

Variant	nsv901004
Chromosome Location	chr13:110653666-110682916
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:110653031..110654741-chr17:73849649..73852204,2	MCF-7	breast:
2	chr13:110624570..110627835-chr13:110649740..110653862,3	MCF-7	breast:
3	chr13:110652695..110654691-chr13:110658148..110659831,2	MCF-7	breast:
4	chr13:110658379..110661796-chr13:110663475..110666715,3	MCF-7	breast:
5	chr13:110437517..110439697-chr13:110657006..110658602,2	MCF-7	breast:
6	chr13:110651700..110653449-chr13:110664832..110667633,2	K562	blood:
7	chr13:110652695..110654691-chr13:110658148..110659831,2	MCF-7	breast:
8	chr13:110658379..110661796-chr13:110663475..110666715,3	MCF-7	breast:
9	chr13:110436934..110441220-chr13:110649910..110655074,7	MCF-7	breast:
10	chr13:110654511..110656415-chr13:110759069..110761693,2	MCF-7	breast:
11	chr13:110651856..110654487-chr13:110670006..110672793,2	MCF-7	breast:
12	chr13:110651856..110654487-chr13:110670006..110672793,2	MCF-7	breast:
13	chr13:110648675..110651623-chr13:110654497..110656407,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-2	chr13:110675327-110675741	NONHSAT035125

No data

Variant related genes	Relation type
ENSG00000132471	chromatin interactions
ENSG00000185950	chromatin interactions

Extended variants
information (count: 1269 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1269 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7982180	chr13:110653666-110653667	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563981410	chr13:110653668-110653669	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs145762922	chr13:110653700-110653701	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12583705	chr13:110653701-110653702	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559426957	chr13:110653721-110653722	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs528611942	chr13:110653759-110653760	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs7983033	chr13:110653860-110653861	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs11842447	chr13:110653902-110653903	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs76562675	chr13:110653911-110653912	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs9559702	chr13:110653926-110653927	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186469525	chr13:110653929-110653930	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs148944488	chr13:110653933-110653934	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs192565247	chr13:110653953-110653954	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573064098	chr13:110653984-110653985	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374028760	chr13:110653999-110654000	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7982954	chr13:110654010-110654011	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555420203	chr13:110654268-110654269	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575154479	chr13:110654269-110654270	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200379245	chr13:110654289-110654290	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200601662	chr13:110654292-110654293	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201406633	chr13:110654293-110654294	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs57386018	chr13:110654294-110654295	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs370954231	chr13:110654295-110654296	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs563836480	chr13:110654297-110654298	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs9559703	chr13:110654389-110654390	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546088155	chr13:110654394-110654395	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs559563339	chr13:110654441-110654442	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs534927208	chr13:110654446-110654447	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs9588062	chr13:110654453-110654454	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs61239565	chr13:110654460-110654461	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562175926	chr13:110654464-110654465	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs530818006	chr13:110654483-110654484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571642333	chr13:110654488-110654489	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187477194	chr13:110654509-110654510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs145810425	chr13:110654518-110654519	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs192900670	chr13:110654527-110654528	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs375255327	chr13:110654528-110654529	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546899477	chr13:110654529-110654530	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs538942028	chr13:110654565-110654566	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113575814	chr13:110654572-110654573	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566699596	chr13:110654579-110654580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs1335809	chr13:110654591-110654592	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555186784	chr13:110654633-110654634	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138390334	chr13:110654652-110654653	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556984856	chr13:110654669-110654670	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79150539	chr13:110654691-110654692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs4612922	chr13:110654716-110654717	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs9559704	chr13:110654771-110654772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4605013	chr13:110654793-110654794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141337510	chr13:110654815-110654816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110649800-110654800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:110649800-110655000	Enhancers	Hela-S3	cervix
3	chr13:110650400-110655000	Enhancers	HMEC	breast
4	chr13:110650800-110655400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:110651000-110654400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:110651000-110654800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:110651400-110654000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr13:110651400-110655000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:110651600-110658000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:110651800-110654600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:110651800-110662800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:110652000-110654000	Enhancers	A549	lung
13	chr13:110652000-110654200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:110652400-110654800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:110652600-110658000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:110653000-110654600	Enhancers	NHEK	skin
17	chr13:110653000-110654800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:110653000-110654800	Enhancers	Osteobl	bone
19	chr13:110653000-110655400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:110653200-110654400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:110653200-110654600	Enhancers	NH-A	brain
22	chr13:110653200-110654600	Enhancers	NHDF-Ad	bronchial
23	chr13:110653200-110654600	Enhancers	NHLF	lung
24	chr13:110653400-110654400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:110653400-110654800	Enhancers	HSMM	muscle
26	chr13:110653600-110663000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:110654000-110654400	Flanking Active TSS	A549	lung
28	chr13:110654000-110664000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr13:110654200-110654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:110654400-110655000	Enhancers	A549	lung
31	chr13:110654400-110657800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:110654400-110657800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:110654600-110654800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:110654600-110655000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:110654600-110657400	Weak transcription	NHDF-Ad	bronchial
36	chr13:110654600-110658000	Weak transcription	NHEK	skin
37	chr13:110654600-110658200	Weak transcription	NH-A	brain
38	chr13:110654800-110657200	Weak transcription	HSMM	muscle
39	chr13:110654800-110657400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:110654800-110657800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:110654800-110658600	Weak transcription	Osteobl	bone
42	chr13:110654800-110658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:110655000-110657200	Weak transcription	HMEC	breast
44	chr13:110655000-110657800	Weak transcription	Hela-S3	cervix
45	chr13:110655000-110658400	Weak transcription	A549	lung
46	chr13:110655000-110658600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:110655000-110662800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:110655400-110657800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr13:110655400-110658000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:110657200-110659200	Enhancers	HSMM	muscle

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