Variant report

Variant	nsv833604
Chromosome Location	chr18:25226727-25417423
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:25265639..25266284-chr18:25688923..25689473,2	MCF-7	breast:
2	chr18:25374132..25375724-chr18:25376125..25378154,2	MCF-7	breast:
3	chr18:25374132..25375724-chr18:25376125..25378154,2	MCF-7	breast:
4	chr18:25347523..25349302-chr18:25369021..25370534,2	MCF-7	breast:
5	chr18:25326169..25328463-chr18:25331978..25333698,2	K562	blood:
6	chr18:25338917..25340417-chr2:232484221..232486190,2	MCF-7	breast:
7	chr18:25265484..25266714-chr18:25329705..25330655,6	MCF-7	breast:
8	chr18:25234950..25237172-chr18:25239040..25240563,2	K562	blood:
9	chr18:25326169..25328463-chr18:25331978..25333698,2	K562	blood:
10	chr18:25403860..25406496-chr18:25413422..25415444,2	MCF-7	breast:
11	chr18:25359374..25361805-chr18:25445268..25447379,2	K562	blood:
12	chr18:25265484..25266714-chr18:25329705..25330655,6	MCF-7	breast:
13	chr18:25347523..25349302-chr18:25369021..25370534,2	MCF-7	breast:
14	chr18:25234950..25237172-chr18:25239040..25240563,2	K562	blood:
15	chr18:25184960..25186640-chr18:25329591..25330402,4	MCF-7	breast:
16	chr18:25403860..25406496-chr18:25413422..25415444,2	MCF-7	breast:

No data

Extended variants
information (count: 4806 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:4806 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192861175	chr18:25227812-25227813	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572962011	chr18:25227827-25227828	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs534016189	chr18:25227870-25227871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559075367	chr18:25227877-25227878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs370776274	chr18:25227899-25227900	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183848629	chr18:25227934-25227935	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs34441339	chr18:25227947-25227948	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573965529	chr18:25228089-25228090	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374739775	chr18:25228106-25228107	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565319806	chr18:25228110-25228111	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541241871	chr18:25228170-25228171	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150638543	chr18:25228252-25228253	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs77159513	chr18:25228295-25228296	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs530807670	chr18:25228356-25228357	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368913157	chr18:25228365-25228366	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs574744898	chr18:25228379-25228380	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372561264	chr18:25228419-25228420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542481953	chr18:25228562-25228563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560637644	chr18:25228633-25228634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568145806	chr18:25228654-25228655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139733243	chr18:25228708-25228709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545212805	chr18:25228740-25228741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187728112	chr18:25228749-25228750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564633224	chr18:25228789-25228790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1420943	chr18:25228828-25228829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs550412211	chr18:25228859-25228860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192532694	chr18:25228895-25228896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373028625	chr18:25228914-25228915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200305947	chr18:25228925-25228926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9962024	chr18:25228960-25228961	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144620767	chr18:25228964-25228965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566803690	chr18:25228965-25228966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115276165	chr18:25229013-25229014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533975397	chr18:25229036-25229037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558830498	chr18:25229043-25229044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568381464	chr18:25229069-25229070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201468525	chr18:25229070-25229071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577121443	chr18:25229099-25229100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147449624	chr18:25229149-25229150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183462441	chr18:25229170-25229171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372000243	chr18:25229276-25229277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17721591	chr18:25229286-25229287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs74690422	chr18:25229342-25229343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140646389	chr18:25229343-25229344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572452094	chr18:25229346-25229347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74611092	chr18:25229384-25229385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188234671	chr18:25229398-25229399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531790430	chr18:25229434-25229435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550619425	chr18:25229437-25229438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536319879	chr18:25229442-25229443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	19651600	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:648 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25227800-25228400	Active TSS	Osteobl	bone
2	chr18:25228200-25228400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr18:25228400-25229600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:25228600-25230200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr18:25228600-25230200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:25229000-25229600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr18:25229000-25230000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:25229200-25230000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr18:25229400-25230000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr18:25229400-25230000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr18:25229600-25230000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr18:25229600-25230200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:25229800-25230200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr18:25230000-25230200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr18:25230000-25232800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:25230200-25232600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr18:25230200-25232800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr18:25230200-25233000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:25230600-25232600	Enhancers	Fetal Heart	heart
20	chr18:25231800-25232200	Enhancers	Fetal Lung	lung
21	chr18:25232200-25232400	Enhancers	GM12878-XiMat	blood
22	chr18:25232200-25236000	Weak transcription	Fetal Lung	lung
23	chr18:25232400-25232800	Active TSS	GM12878-XiMat	blood
24	chr18:25232400-25233000	Enhancers	NH-A	brain
25	chr18:25232600-25232800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr18:25232600-25233000	Flanking Active TSS	Fetal Heart	heart
27	chr18:25232600-25233000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr18:25232600-25233000	Enhancers	HSMMtube	muscle
29	chr18:25232600-25233200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:25232800-25233000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr18:25233000-25233200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr18:25233000-25235200	Enhancers	Fetal Heart	heart
33	chr18:25233000-25236000	Weak transcription	HSMMtube	muscle
34	chr18:25233000-25236200	Weak transcription	NH-A	brain
35	chr18:25233200-25240400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:25235200-25236200	Weak transcription	Fetal Heart	heart
37	chr18:25235800-25237400	Enhancers	HSMM	muscle
38	chr18:25236000-25236600	Enhancers	Fetal Lung	lung
39	chr18:25236000-25236600	Enhancers	HSMMtube	muscle
40	chr18:25236000-25237200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:25236000-25237800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr18:25236200-25236800	Enhancers	Fetal Heart	heart
43	chr18:25236200-25237000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:25236200-25237400	Enhancers	NH-A	brain
45	chr18:25236200-25237400	Enhancers	Osteobl	bone
46	chr18:25236400-25237400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr18:25236600-25237000	Weak transcription	HSMMtube	muscle
48	chr18:25236600-25237200	Weak transcription	Fetal Lung	lung
49	chr18:25237000-25237200	Enhancers	HSMMtube	muscle
50	chr18:25237200-25237400	Enhancers	Fetal Lung	lung

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