Variant report

Variant	nsv534465
Chromosome Location	chr7:41224437-41443498
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:41255712..41257388-chr7:41260723..41262857,2	MCF-7	breast:
2	chr7:41247142..41249003-chr7:41250811..41252742,2	MCF-7	breast:
3	chr7:41355119..41356056-chr7:41735658..41736652,2	MCF-7	breast:
4	chr7:41422116..41424583-chr7:41428075..41429621,2	MCF-7	breast:
5	chr7:41337090..41339193-chr7:41343242..41345074,2	MCF-7	breast:
6	chr7:41422116..41424583-chr7:41428075..41429621,2	MCF-7	breast:
7	chr7:41244996..41246544-chr7:41248454..41251306,2	MCF-7	breast:
8	chr7:41261382..41263717-chr7:41269869..41272043,2	MCF-7	breast:
9	chr7:41228185..41230237-chr7:41263840..41265939,2	MCF-7	breast:
10	chr7:41380028..41382375-chr7:41390900..41393107,2	K562	blood:
11	chr17:57922773..57924988-chr7:41235428..41237179,2	MCF-7	breast:
12	chr7:41200450..41202683-chr7:41278426..41280923,2	MCF-7	breast:
13	chr7:41273144..41275443-chr7:41278938..41281614,2	MCF-7	breast:
14	chr7:41393950..41396388-chr7:41398772..41400642,2	K562	blood:
15	chr7:41280935..41281463-chr7:41744433..41745296,2	MCF-7	breast:
16	chr7:41218957..41220551-chr7:41225375..41228012,2	MCF-7	breast:
17	chr7:41285026..41287975-chr7:41289569..41291440,2	K562	blood:
18	chr7:41247142..41249003-chr7:41250811..41252742,2	MCF-7	breast:
19	chr7:41313926..41315692-chr7:41316112..41318834,2	MCF-7	breast:
20	chr7:41248747..41250895-chr7:41255395..41257118,2	K562	blood:
21	chr7:41273144..41275443-chr7:41278938..41281614,2	MCF-7	breast:
22	chr7:41277967..41280193-chr7:41283626..41286439,2	MCF-7	breast:
23	chr7:41228185..41230237-chr7:41263840..41265939,2	MCF-7	breast:
24	chr7:41374040..41375690-chr7:41377626..41380344,2	K562	blood:
25	chr7:41374040..41375690-chr7:41377626..41380344,2	K562	blood:
26	chr7:41337090..41339193-chr7:41343242..41345074,2	MCF-7	breast:
27	chr21:41756953..41758689-chr7:41322091..41324505,2	MCF-7	breast:
28	chr7:41261382..41263717-chr7:41269869..41272043,2	MCF-7	breast:
29	chr7:41380028..41382375-chr7:41390900..41393107,2	K562	blood:
30	chr7:41393950..41396388-chr7:41398772..41400642,2	K562	blood:
31	chr7:41285682..41287554-chr7:41740636..41742871,2	MCF-7	breast:
32	chr7:41423583..41425738-chr7:41458745..41461522,2	MCF-7	breast:
33	chr7:41417671..41418189-chr7:41612493..41613331,2	MCF-7	breast:
34	chr7:41248747..41250895-chr7:41255395..41257118,2	K562	blood:
35	chr7:41244996..41246544-chr7:41248454..41251306,2	MCF-7	breast:
36	chr7:41255712..41257388-chr7:41260723..41262857,2	MCF-7	breast:
37	chr7:41277967..41280193-chr7:41283626..41286439,2	MCF-7	breast:
38	chr7:41313926..41315692-chr7:41316112..41318834,2	MCF-7	breast:
39	chr7:41285026..41287975-chr7:41289569..41291440,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236310	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000122641	chromatin interactions

Extended variants
information (count: 7993 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:7993 , 50 per page) page: 1 2 3 4 5 6 7 ... 160

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376212680	chr7:41224458-41224459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541559404	chr7:41224553-41224554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531114234	chr7:41224599-41224600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114934504	chr7:41224663-41224664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115578490	chr7:41224682-41224683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549288550	chr7:41224733-41224734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370841559	chr7:41224743-41224744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574245425	chr7:41224747-41224748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190242251	chr7:41224772-41224773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139441611	chr7:41224806-41224807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544923243	chr7:41224841-41224842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536325825	chr7:41224848-41224849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9718682	chr7:41224849-41224850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200009291	chr7:41224850-41224851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573527317	chr7:41224853-41224854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9719995	chr7:41224856-41224857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147634151	chr7:41224857-41224858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75769832	chr7:41224860-41224861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77607758	chr7:41224864-41224865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200135657	chr7:41224868-41224869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201713876	chr7:41224872-41224873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563029257	chr7:41224889-41224890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569829200	chr7:41224899-41224900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578209832	chr7:41224911-41224912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139403352	chr7:41224912-41224913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182303568	chr7:41224920-41224921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558861815	chr7:41224936-41224937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs29533	chr7:41224937-41224938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs527818579	chr7:41224947-41224948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145316490	chr7:41224981-41224982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs29534	chr7:41225011-41225012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186979030	chr7:41225020-41225021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541873431	chr7:41225029-41225030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561150947	chr7:41225030-41225031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs29535	chr7:41225072-41225073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs79436253	chr7:41225132-41225133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58619564	chr7:41225148-41225149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191811837	chr7:41225157-41225158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142476555	chr7:41225170-41225171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57187309	chr7:41225205-41225206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550471163	chr7:41225229-41225230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568852537	chr7:41225248-41225249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28516492	chr7:41225252-41225253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182720789	chr7:41225318-41225319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529825753	chr7:41225382-41225383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79486070	chr7:41225383-41225384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575822653	chr7:41225490-41225491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569651028	chr7:41225497-41225498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537276526	chr7:41225534-41225535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552068891	chr7:41225536-41225537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41215200-41226600	Weak transcription	Aorta	Aorta
2	chr7:41215400-41230400	Weak transcription	Pancreas	Pancrea
3	chr7:41222600-41226000	Weak transcription	HUVEC	blood vessel
4	chr7:41222600-41227600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:41223600-41225400	Weak transcription	HMEC	breast
6	chr7:41223800-41226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:41223800-41226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:41223800-41226400	Weak transcription	NHEK	skin
9	chr7:41224400-41225400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:41225400-41225600	Enhancers	NHLF	lung
11	chr7:41225400-41225800	Enhancers	Hela-S3	cervix
12	chr7:41225400-41226000	Enhancers	HMEC	breast
13	chr7:41225400-41231000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:41225600-41225800	Enhancers	NHDF-Ad	bronchial
15	chr7:41225600-41226800	Weak transcription	NHLF	lung
16	chr7:41225800-41226200	Weak transcription	Hela-S3	cervix
17	chr7:41225800-41226800	Weak transcription	NHDF-Ad	bronchial
18	chr7:41226000-41226400	Weak transcription	HMEC	breast
19	chr7:41226000-41228000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:41226000-41231000	Enhancers	HUVEC	blood vessel
21	chr7:41226200-41227800	Enhancers	Hela-S3	cervix
22	chr7:41226400-41230400	Enhancers	Placenta	Placenta
23	chr7:41226400-41230600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:41226400-41230800	Enhancers	HMEC	breast
25	chr7:41226400-41231000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:41226400-41231000	Enhancers	NHEK	skin
27	chr7:41226600-41227000	Enhancers	Aorta	Aorta
28	chr7:41226600-41228600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr7:41226800-41227000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:41226800-41227000	Enhancers	Esophagus	oesophagus
31	chr7:41226800-41227200	Enhancers	HSMMtube	muscle
32	chr7:41226800-41228600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:41226800-41229000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:41226800-41229200	Enhancers	NH-A	brain
35	chr7:41226800-41230600	Enhancers	NHLF	lung
36	chr7:41226800-41230800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:41226800-41230800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:41226800-41231000	Enhancers	NHDF-Ad	bronchial
39	chr7:41227000-41228000	Enhancers	HSMM	muscle
40	chr7:41227000-41229200	Weak transcription	Aorta	Aorta
41	chr7:41227000-41229400	Weak transcription	Esophagus	oesophagus
42	chr7:41227000-41230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:41227200-41227600	Weak transcription	HSMMtube	muscle
44	chr7:41227600-41227800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:41227600-41227800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:41227600-41227800	Enhancers	Osteobl	bone
47	chr7:41227600-41228600	Enhancers	HSMMtube	muscle
48	chr7:41227600-41230600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:41227800-41228000	Flanking Active TSS	Osteobl	bone
50	chr7:41227800-41228200	Enhancers	Fetal Lung	lung

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