Variant report

Variant	nsv466170
Chromosome Location	chr9:10785491-10856892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:10789715-10790204	HepG2	liver:	n/a	chr9:10790076-10790087
2	CEBPB	chr9:10831699-10831969	HepG2	liver:	n/a	n/a
3	CEBPB	chr9:10843733-10844029	HepG2	liver:	n/a	chr9:10843883-10843894
4	CEBPB	chr9:10800986-10801148	HepG2	liver:	n/a	chr9:10801096-10801107
5	CEBPB	chr9:10838394-10838591	HepG2	liver:	n/a	chr9:10838508-10838519
6	CEBPB	chr9:10807335-10807671	HepG2	liver:	n/a	chr9:10807516-10807527 chr9:10807518-10807527 chr9:10807518-10807529 chr9:10807516-10807529
7	CEBPB	chr9:10807377-10807659	IMR90	lung:	n/a	chr9:10807516-10807527 chr9:10807518-10807527 chr9:10807518-10807529 chr9:10807516-10807529
8	CTCF	chr9:10856020-10856170	HPF	lung:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
9	CTCF	chr9:10855940-10856090	GM12878	blood:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
10	CTCF	chr9:10856003-10856074	Lung_OC	lung:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
11	CTCF	chr9:10856000-10856150	SK-N-SH_RA	brain:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
12	CTCF	chr9:10855060-10855210	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr9:10855958-10856143	SK-N-SH_RA	brain:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
14	CTCF	chr9:10855880-10856030	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr9:10855980-10856130	HMEC	breast:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
16	CTCF	chr9:10855960-10856110	HL-60	blood:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
17	CTCF	chr9:10855920-10856070	HCM	heart:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
18	CTCF	chr9:10855980-10856130	HVMF	connective:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
19	CTCF	chr9:10855940-10856090	WERI-Rb-1	eye:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
20	CTCF	chr9:10855940-10856090	SAEC	small airway:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
21	CTCF	chr9:10855960-10856110	Hela-S3	cervix:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
22	CTCF	chr9:10855899-10856197	HUVEC	blood vessel:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
23	CTCF	chr9:10855960-10856110	HRPEpiC	eye:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
24	CTCF	chr9:10855960-10856110	NHEK	skin:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
25	CTCF	chr9:10855960-10856110	GM12873	blood:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
26	CTCF	chr9:10855939-10856154	LNCaP	prostate:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
27	CTCF	chr9:10855940-10856090	HCPEpiC	choroid plexus:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
28	CTCF	chr9:10856020-10856170	HEK293	kidney:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
29	CTCF	chr9:10856032-10856091	NHEK	skin:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
30	CTCF	chr9:10855980-10856130	HBMEC	blood vessel:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
31	CTCF	chr9:10855940-10856090	HPAF	blood vessel:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
32	CTCF	chr9:10856000-10856150	HRE	kidney:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
33	CTCF	chr9:10856000-10856150	MCF-7	breast:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
34	CTCF	chr9:10855998-10856104	Kidney_OC	kidney:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
35	CTCF	chr9:10855940-10856090	HUVEC	blood vessel:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
36	CTCF	chr9:10855832-10856309	MCF-7	breast:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
37	CTCF	chr9:10855960-10856110	NB4	blood:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
38	CTCF	chr9:10855800-10855950	A549	lung:	n/a	n/a
39	CTCF	chr9:10856100-10856250	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chr9:10855960-10856110	HEK293	kidney:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
41	CTCF	chr9:10855847-10856254	H1-hESC	embryonic stem cell:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
42	CTCF	chr9:10856000-10856150	HBMEC	blood vessel:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
43	CTCF	chr9:10855968-10856128	MCF-7	breast:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
44	CTCF	chr9:10855980-10856139	HepG2	liver:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
45	CTCF	chr9:10855933-10856125	Hela-S3	cervix:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
46	CTCF	chr9:10855860-10856010	BE2_C	brain:	n/a	n/a
47	CTCF	chr9:10855940-10856090	RPTEC	kidney:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
48	CTCF	chr9:10855600-10855750	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr9:10855980-10856130	HAc	cerebellar:	n/a	chr9:10856035-10856044 chr9:10856037-10856047
50	CTCF	chr9:10855960-10856110	SK-N-SH_RA	brain:	n/a	chr9:10856035-10856044 chr9:10856037-10856047

No.	Distal block	Cell Line	Cell type
1	chr9:10800011..10802927-chr9:10803312..10805681,2	K562	blood:
2	chr9:10800011..10802927-chr9:10803312..10805681,2	K562	blood:
3	chr9:10855589..10857004-chr9:11319142..11320476,6	MCF-7	breast:
4	chr9:10799917..10802612-chr9:10809081..10811192,2	K562	blood:
5	chr9:10799917..10802612-chr9:10809081..10811192,2	K562	blood:
6	chr9:10855837..10856356-chr9:11319207..11319905,2	MCF-7	breast:
7	chr9:10855600..10856394-chr9:12425953..12426703,2	MCF-7	breast:
8	chr9:10855828..10856443-chr9:12329128..12329639,2	MCF-7	breast:

Variant related genes	Relation type
IMP3P1	TF binding region

Extended variants
information (count: 459 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10959299	chr9:10790213-10790214	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563510833	chr9:10790222-10790223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529426898	chr9:10790223-10790224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118056864	chr9:10790235-10790236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547918003	chr9:10790243-10790244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561618744	chr9:10790251-10790252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528977461	chr9:10790256-10790257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527328826	chr9:10790267-10790268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72704868	chr9:10790284-10790285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147341102	chr9:10790307-10790308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539711575	chr9:10790310-10790311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550024541	chr9:10790319-10790320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565525493	chr9:10790336-10790337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569897510	chr9:10790359-10790360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79521073	chr9:10790424-10790425	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555874207	chr9:10790429-10790430	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534938107	chr9:10790453-10790454	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs546558505	chr9:10790488-10790489	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572399348	chr9:10790495-10790496	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs139199714	chr9:10790524-10790525	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs557831879	chr9:10790531-10790532	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577938669	chr9:10790538-10790539	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs149969072	chr9:10790551-10790552	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543735262	chr9:10790559-10790560	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs563626159	chr9:10790564-10790565	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs551666640	chr9:10790565-10790566	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs10117531	chr9:10790580-10790581	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561826729	chr9:10790608-10790609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192982742	chr9:10790623-10790624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs556871807	chr9:10790644-10790645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547387603	chr9:10790653-10790654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550562872	chr9:10790657-10790658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs185212976	chr9:10790669-10790670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs72704869	chr9:10790682-10790683	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188875205	chr9:10790693-10790694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs145079671	chr9:10790741-10790742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs535647029	chr9:10790784-10790785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs189661768	chr9:10790790-10790791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs117778086	chr9:10790825-10790826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs115509267	chr9:10790834-10790835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73392906	chr9:10790869-10790870	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373792428	chr9:10790872-10790873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs372525853	chr9:10790906-10790907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs537040319	chr9:10790923-10790924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs193224093	chr9:10791001-10791002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541064566	chr9:10791023-10791024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs184401328	chr9:10791046-10791047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs564402300	chr9:10791047-10791048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs543217653	chr9:10791052-10791053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78898365	chr9:10791058-10791059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	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
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10790200-10790600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:10790400-10791600	ZNF genes & repeats	Pancreas	Pancrea
3	chr9:10804200-10804800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:10804400-10804800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:10804600-10805000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:10804600-10805000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:10804800-10806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:10805000-10806800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:10806400-10807200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:10806600-10806800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:10806800-10807200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:10807000-10807400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:10807200-10808000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:10808000-10809000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:10808400-10808800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:10812600-10813000	Enhancers	Fetal Brain Male	brain
17	chr9:10829800-10830000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:10829800-10830200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:10833400-10834200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:10836000-10836400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:10836200-10836400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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