Variant report

Variant	esv2762801
Chromosome Location	chr9:17029570-17054625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:17033642-17033959	HepG2	liver:	n/a	n/a
2	CEBPB	chr9:17033518-17033953	A549	lung:	n/a	n/a
3	CEBPB	chr9:17031555-17031833	HepG2	liver:	n/a	chr9:17031696-17031707
4	CTCF	chr9:17054020-17054170	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr9:17054020-17054170	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr9:17054000-17054150	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr9:17054080-17054230	RPTEC	kidney:	n/a	n/a
8	CTCF	chr9:17054020-17054170	HEK293	kidney:	n/a	n/a
9	CTCF	chr9:17054060-17054210	GM12869	blood:	n/a	n/a
10	CTCF	chr9:17053960-17054110	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr9:17042500-17042650	A549	lung:	n/a	n/a
12	CTCF	chr9:17042571-17042684	A549	lung:	n/a	n/a
13	CTCF	chr9:17054100-17054250	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr9:17053920-17054070	HEK293	kidney:	n/a	n/a
15	CTCF	chr9:17042568-17042699	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr9:17051269-17051282	GM10248	blood:	n/a	n/a
17	CTCF	chr9:17054100-17054250	BJ	skin:	n/a	n/a
18	CTCF	chr9:17052922-17053001	Fibrobl	skin:	n/a	n/a
19	CTCF	chr9:17054060-17054210	HMF	breast:	n/a	n/a
20	CTCF	chr9:17053960-17054110	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr9:17054080-17054230	A549	lung:	n/a	n/a
22	CTCF	chr9:17051020-17051170	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr9:17042593-17042631	HepG2	liver:	n/a	n/a
24	CTCF	chr9:17053980-17054130	SK-N-SH_RA	brain:	n/a	n/a
25	E2F4	chr9:17049749-17049949	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr9:17028974-17029757	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr9:17029159-17029606	SH-SY5Y	brain:	n/a	n/a
28	MAX	chr9:17044191-17044482	H1-hESC	embryonic stem cell:	n/a	chr9:17044314-17044324
29	MAX	chr9:17052631-17052985	H1-hESC	embryonic stem cell:	n/a	chr9:17052812-17052821
30	MAX	chr9:17044263-17044477	NB4	blood:	n/a	chr9:17044314-17044324
31	POLR2A	chr9:17032252-17032301	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr9:17030740-17030757	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr9:17043643-17043741	MCF-7	breast:	n/a	n/a
34	POLR2A	chr9:17053802-17053806	HepG2	liver:	n/a	n/a
35	POLR2A	chr9:17053600-17053793	HepG2	liver:	n/a	n/a
36	POLR2A	chr9:17039275-17039428	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr9:17044658-17044704	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr9:17030986-17031163	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr9:17053128-17053328	MCF10A-Er-Src	breast:	n/a	n/a
40	RAD21	chr9:17042413-17042826	H1-hESC	embryonic stem cell:	n/a	n/a
41	RXRA	chr9:17030974-17031174	HepG2	liver:	n/a	n/a
42	SMC3	chr9:17033864-17033906	Hela-S3	cervix:	n/a	n/a
43	SRF	chr9:17040687-17040915	H1-hESC	embryonic stem cell:	n/a	n/a
44	STAT3	chr9:17045674-17045680	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr9:17033953-17034118	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr9:17041272-17041398	MCF10A-Er-Src	breast:	n/a	n/a
47	ZBTB33	chr9:17030958-17031187	HepG2	liver:	n/a	n/a

No data

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

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

No data

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

Extended variants
information (count: 436 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184493867	chr9:17037401-17037402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186926844	chr9:17037402-17037403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566328765	chr9:17037407-17037408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565965133	chr9:17037431-17037432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113396386	chr9:17037446-17037447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138358142	chr9:17037449-17037450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554662360	chr9:17037473-17037474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184227762	chr9:17037585-17037586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537392427	chr9:17037603-17037604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558957897	chr9:17037675-17037676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149561625	chr9:17037692-17037693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545356140	chr9:17037698-17037699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560460466	chr9:17037701-17037702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144248465	chr9:17037702-17037703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372511613	chr9:17037730-17037731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547943406	chr9:17037751-17037752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533806856	chr9:17037765-17037766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376173101	chr9:17037771-17037772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201976966	chr9:17037775-17037776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372762602	chr9:17037776-17037777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34898115	chr9:17037788-17037789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560827641	chr9:17037806-17037807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148686156	chr9:17037810-17037811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113941193	chr9:17037825-17037826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142227973	chr9:17037831-17037832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147397632	chr9:17037849-17037850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547709638	chr9:17037857-17037858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371460604	chr9:17037886-17037887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576598288	chr9:17037907-17037908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139669559	chr9:17037913-17037914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193012456	chr9:17037919-17037920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536460927	chr9:17038018-17038019	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145088993	chr9:17038035-17038036	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80172077	chr9:17038127-17038128	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185640969	chr9:17038134-17038135	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537593779	chr9:17038145-17038146	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190516562	chr9:17038154-17038155	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543942390	chr9:17038160-17038161	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180790962	chr9:17038167-17038168	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12005194	chr9:17038175-17038176	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554123716	chr9:17038213-17038214	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147586388	chr9:17038220-17038221	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185389265	chr9:17038222-17038223	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188539677	chr9:17038251-17038252	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531395290	chr9:17038262-17038263	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537980403	chr9:17038276-17038277	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181306096	chr9:17038281-17038282	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564804971	chr9:17038304-17038305	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35019805	chr9:17038307-17038308	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531997198	chr9:17038341-17038342	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17037400-17038000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:17037600-17039200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:17038000-17038400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:17038000-17038400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:17039200-17039600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:17039200-17040000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr9:17042200-17043000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:17043000-17044800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:17044800-17045600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:17052800-17053200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:17053200-17062600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links