Variant report

Variant	nsv892656
Chromosome Location	chr9:17008137-17076367
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	ARID3A	chr9:17057789-17058149	HepG2	liver:	n/a	n/a
2	BATF	chr9:17057808-17058032	GM12878	blood:	n/a	n/a
3	BHLHE40	chr9:17057793-17058031	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:17021419-17021740	A549	lung:	n/a	n/a
5	CEBPB	chr9:17057772-17058066	HepG2	liver:	n/a	n/a
6	CEBPB	chr9:17009423-17009667	A549	lung:	n/a	chr9:17009575-17009584 chr9:17009575-17009584
7	CEBPB	chr9:17021301-17021774	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr9:17033518-17033953	A549	lung:	n/a	n/a
9	CEBPB	chr9:17031555-17031833	HepG2	liver:	n/a	chr9:17031696-17031707
10	CEBPB	chr9:17021238-17021833	IMR90	lung:	n/a	n/a
11	CEBPB	chr9:17021416-17021683	HepG2	liver:	n/a	n/a
12	CEBPB	chr9:17021424-17021724	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr9:17009388-17009729	IMR90	lung:	n/a	chr9:17009575-17009584 chr9:17009575-17009584
14	CEBPB	chr9:17033642-17033959	HepG2	liver:	n/a	n/a
15	CTCF	chr9:17063660-17063810	HFF-Myc	foreskin:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
16	CTCF	chr9:17063700-17063850	GM12878	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
17	CTCF	chr9:17063660-17063810	AG09309	skin:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
18	CTCF	chr9:17063640-17063790	MCF-7	breast:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
19	CTCF	chr9:17042568-17042699	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr9:17063640-17063790	GM12865	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
21	CTCF	chr9:17051020-17051170	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr9:17063620-17063770	HRPEpiC	eye:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
23	CTCF	chr9:17063660-17063810	GM12871	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
24	CTCF	chr9:17075700-17075850	HEK293	kidney:	n/a	n/a
25	CTCF	chr9:17063680-17063830	Hela-S3	cervix:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
26	CTCF	chr9:17063680-17063830	HRE	kidney:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
27	CTCF	chr9:17075720-17075870	HMF	breast:	n/a	n/a
28	CTCF	chr9:17063680-17063830	HEK293	kidney:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
29	CTCF	chr9:17053920-17054070	HEK293	kidney:	n/a	n/a
30	CTCF	chr9:17063660-17063810	HUVEC	blood vessel:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
31	CTCF	chr9:17063640-17063790	HEK293	kidney:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
32	CTCF	chr9:17075720-17075870	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr9:17063060-17063210	WI-38	lung:	n/a	n/a
34	CTCF	chr9:17061815-17061892	GM10266	blood:	n/a	n/a
35	CTCF	chr9:17063620-17063770	K562	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
36	CTCF	chr9:17063660-17063810	GM12864	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
37	CTCF	chr9:17063620-17063770	GM12874	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
38	CTCF	chr9:17075640-17075790	NHLF	lung:	n/a	n/a
39	CTCF	chr9:17075700-17075850	NB4	blood:	n/a	n/a
40	CTCF	chr9:17063589-17063914	HUVEC	blood vessel:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
41	CTCF	chr9:17063606-17063827	HepG2	liver:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
42	CTCF	chr9:17063040-17063190	AG09319	gingival:	n/a	n/a
43	CTCF	chr9:17063543-17063899	K562	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
44	CTCF	chr9:17063560-17063710	HAc	cerebellar:	n/a	n/a
45	CTCF	chr9:17063633-17063844	GM19238	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
46	CTCF	chr9:17063720-17063870	A549	lung:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
47	CTCF	chr9:17063405-17063481	GM10266	blood:	n/a	n/a
48	CTCF	chr9:17063373-17064049	A549	lung:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
49	CTCF	chr9:17063617-17063838	GM10248	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
50	CTCF	chr9:17063601-17063871	Hela-S3	cervix:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:17063303..17064146-chr9:17462547..17463504,3	MCF-7	breast:
2	chr9:17004932..17007249-chr9:17011274..17013104,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTLN-4	chr9:17053899-17054200	NONHSAT130298
2	lnc-CNTLN-1	chr9:17048917-17049039	ENSG00000237153.1

Variant related genes	Relation type
RN7SL720P	TF binding region
ENSG00000237153	TF binding region

Extended variants
information (count: 2256 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2256 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs263628	chr9:17008137-17008138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34624396	chr9:17008141-17008142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144704353	chr9:17008170-17008171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192591596	chr9:17008187-17008188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572513965	chr9:17008213-17008214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536221312	chr9:17008233-17008234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62560462	chr9:17008235-17008236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183671652	chr9:17008278-17008279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368597071	chr9:17008284-17008285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544131646	chr9:17008343-17008344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527769082	chr9:17008373-17008374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112635532	chr9:17008380-17008381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577805166	chr9:17008382-17008383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188333083	chr9:17008391-17008392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72700140	chr9:17008501-17008502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527396501	chr9:17008561-17008562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372126260	chr9:17008603-17008604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548970421	chr9:17008620-17008621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375478755	chr9:17008651-17008652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370574374	chr9:17008661-17008662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560901398	chr9:17008710-17008711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538254183	chr9:17008712-17008713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35651206	chr9:17008772-17008773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532033794	chr9:17008823-17008824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544621343	chr9:17008842-17008843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550543647	chr9:17008865-17008866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563292302	chr9:17008880-17008881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79475799	chr9:17008881-17008882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78900220	chr9:17008932-17008933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1487501	chr9:17008944-17008945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34800007	chr9:17008993-17008994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115884932	chr9:17009038-17009039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568716331	chr9:17009046-17009047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375147414	chr9:17009087-17009088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536203296	chr9:17009096-17009097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536377426	chr9:17009125-17009126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554525219	chr9:17009144-17009145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs263656	chr9:17009154-17009155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140531705	chr9:17009210-17009211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144259139	chr9:17009214-17009215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151166494	chr9:17009216-17009217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572689910	chr9:17009258-17009259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563854015	chr9:17009273-17009274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140241183	chr9:17009279-17009280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7850290	chr9:17009347-17009348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181088960	chr9:17009397-17009398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542786046	chr9:17009413-17009414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560865010	chr9:17009423-17009424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149871849	chr9:17009469-17009470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528241738	chr9:17009474-17009475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17005800-17008200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:17006400-17010000	Enhancers	Fetal Intestine Large	intestine
3	chr9:17006400-17012600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:17006800-17009200	Weak transcription	Fetal Intestine Small	intestine
5	chr9:17008000-17010400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:17008000-17010600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:17009200-17009600	Enhancers	Fetal Intestine Small	intestine
8	chr9:17009400-17009600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr9:17009600-17010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:17009600-17012200	Weak transcription	Fetal Intestine Small	intestine
11	chr9:17010000-17010400	Weak transcription	Fetal Intestine Large	intestine
12	chr9:17010400-17011400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:17010400-17014600	Enhancers	Fetal Intestine Large	intestine
14	chr9:17010600-17010800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr9:17010600-17011000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:17010600-17011000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:17010800-17013000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:17012000-17012200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr9:17012000-17012400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:17012200-17014600	Enhancers	Fetal Intestine Small	intestine
21	chr9:17012600-17014800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:17012600-17015000	Enhancers	NHEK	skin
23	chr9:17012800-17013000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr9:17013000-17013200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr9:17013000-17013600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:17013000-17014200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:17014200-17018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:17014800-17018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:17015000-17018400	Weak transcription	NHEK	skin
30	chr9:17016200-17018200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:17016600-17016800	Enhancers	Ovary	ovary
32	chr9:17016600-17020400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr9:17016800-17017000	Enhancers	Psoas Muscle	Psoas
34	chr9:17016800-17017800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr9:17016800-17019000	Enhancers	NHDF-Ad	bronchial
36	chr9:17017000-17018200	Weak transcription	Ovary	ovary
37	chr9:17017400-17017600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:17017400-17017800	Enhancers	NH-A	brain
39	chr9:17017400-17017800	Enhancers	Osteobl	bone
40	chr9:17017600-17018000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:17017600-17018000	Enhancers	HSMM	muscle
42	chr9:17017600-17018200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:17017600-17018200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:17017800-17018000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr9:17017800-17018000	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr9:17017800-17018200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr9:17017800-17018200	Active TSS	NHLF	lung
48	chr9:17017800-17018400	Flanking Active TSS	NH-A	brain
49	chr9:17017800-17018600	Enhancers	Brain Germinal Matrix	brain
50	chr9:17017800-17018600	Weak transcription	Psoas Muscle	Psoas

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