Variant report

Variant	nsv613920
Chromosome Location	chr9:25919851-25971497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:307)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:25964175-25964579	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr9:25964148-25964571	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr9:25964280-25964430	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr9:25964140-25964576	MCF-7	breast:	n/a	n/a
5	CTCF	chr9:25964260-25964410	HCM	heart:	n/a	n/a
6	CTCF	chr9:25964300-25964450	HCM	heart:	n/a	n/a
7	CTCF	chr9:25964225-25964495	MCF-7	breast:	n/a	n/a
8	CTCF	chr9:25964263-25964489	GM19238	blood:	n/a	n/a
9	CTCF	chr9:25964221-25964498	GM13977	blood:	n/a	n/a
10	CTCF	chr9:25964260-25964410	AG09319	gingival:	n/a	n/a
11	CTCF	chr9:25964260-25964410	GM12872	blood:	n/a	n/a
12	CTCF	chr9:25964213-25964493	LNCaP	prostate:	n/a	n/a
13	CTCF	chr9:25964280-25964430	AG09319	gingival:	n/a	n/a
14	CTCF	chr9:25964280-25964430	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr9:25964280-25964430	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr9:25964300-25964450	BE2_C	brain:	n/a	n/a
17	CTCF	chr9:25964200-25964350	A549	lung:	n/a	n/a
18	CTCF	chr9:25964280-25964430	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr9:25964136-25964559	GM12878	blood:	n/a	n/a
20	CTCF	chr9:25964200-25964350	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr9:25964260-25964410	HA-sp	spinal cord:	n/a	n/a
22	CTCF	chr9:25964208-25964546	A549	lung:	n/a	n/a
23	CTCF	chr9:25964300-25964450	AG10803	skin:	n/a	n/a
24	CTCF	chr9:25964160-25964310	HAc	cerebellar:	n/a	n/a
25	CTCF	chr9:25964280-25964430	HCFaa	heart:	n/a	n/a
26	CTCF	chr9:25963951-25964822	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr9:25964180-25964617	MCF-7	breast:	n/a	n/a
28	CTCF	chr9:25964300-25964450	GM12872	blood:	n/a	n/a
29	CTCF	chr9:25963940-25964090	GM12870	blood:	n/a	n/a
30	CTCF	chr9:25964217-25964467	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr9:25964282-25964449	MCF-7	breast:	n/a	n/a
32	CTCF	chr9:25964280-25964430	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr9:25964280-25964430	AG10803	skin:	n/a	n/a
34	CTCF	chr9:25964280-25964430	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr9:25964360-25964510	GM12801	blood:	n/a	n/a
36	CTCF	chr9:25964280-25964430	AG04450	lung:	n/a	n/a
37	CTCF	chr9:25964300-25964450	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr9:25964280-25964430	NHLF	lung:	n/a	n/a
39	CTCF	chr9:25964267-25964457	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr9:25964289-25964418	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr9:25964227-25964474	ProgFib	skin:	n/a	n/a
42	CTCF	chr9:25964204-25964432	A549	lung:	n/a	n/a
43	CTCF	chr9:25964220-25964370	GM12865	blood:	n/a	n/a
44	CTCF	chr9:25964216-25964577	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr9:25964280-25964430	HepG2	liver:	n/a	n/a
46	CTCF	chr9:25964003-25964689	A549	lung:	n/a	n/a
47	CTCF	chr9:25964300-25964450	AG09309	skin:	n/a	n/a
48	CTCF	chr9:25964313-25964439	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr9:25964258-25964448	GM13976	blood:	n/a	n/a
50	CTCF	chr9:25964560-25964710	AG09309	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:25964124..25964728-chr9:26326171..26327079,3	MCF-7	breast:
2	chr9:25963971..25964744-chr9:26326247..26327016,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFT74-7	chr9:25937910-25938432	NONHSAT130507

No data

Variant related genes	Relation type
ENSG00000270683	TF binding region

Extended variants
information (count: 695 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1219942	chr9:25919851-25919852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79967842	chr9:25919860-25919861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370517187	chr9:25919872-25919873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571101327	chr9:25919929-25919930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373482915	chr9:25919937-25919938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538595442	chr9:25919963-25919964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375655970	chr9:25919964-25919965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184711575	chr9:25919972-25919973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142037907	chr9:25919975-25919976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374650011	chr9:25920008-25920009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57907261	chr9:25920010-25920011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188453780	chr9:25920087-25920088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555068808	chr9:25920096-25920097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151154614	chr9:25920100-25920101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370227559	chr9:25920157-25920158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540705192	chr9:25920194-25920195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140393119	chr9:25920223-25920224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577508106	chr9:25920255-25920256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544921213	chr9:25920256-25920257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533325923	chr9:25920270-25920271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530542768	chr9:25920324-25920325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191973196	chr9:25920328-25920329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538988784	chr9:25920352-25920353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184572532	chr9:25920375-25920376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34754195	chr9:25920405-25920406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546286253	chr9:25920452-25920453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571113412	chr9:25920466-25920467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs702227	chr9:25920471-25920472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550479365	chr9:25920477-25920478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150384310	chr9:25920486-25920487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536526631	chr9:25920573-25920574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554698161	chr9:25920587-25920588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566847083	chr9:25920623-25920624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534335072	chr9:25920631-25920632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558723746	chr9:25920706-25920707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189327316	chr9:25920711-25920712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559042700	chr9:25920755-25920756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577522491	chr9:25920798-25920799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565890707	chr9:25920809-25920810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561627396	chr9:25920831-25920832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535233006	chr9:25920872-25920873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575057362	chr9:25920880-25920881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542500758	chr9:25920907-25920908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147611241	chr9:25920910-25920911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546805028	chr9:25920937-25920938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142135343	chr9:25920948-25920949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368684087	chr9:25920964-25920965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112451065	chr9:25920965-25920966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181983985	chr9:25920976-25920977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139093644	chr9:25920980-25920981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25918200-25923200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:25923200-25923600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:25923600-25926800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:25926800-25928600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:25926800-25929200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:25927000-25928000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr9:25935000-25935200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:25935000-25935600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:25935200-25936400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:25935600-25936400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:25936400-25936600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:25936400-25939400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:25937800-25938200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr9:25938200-25938600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:25938600-25939200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr9:25939400-25939800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:25964400-25965000	Enhancers	Hela-S3	cervix
18	chr9:25969600-25970000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:25969800-25970000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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