Variant report

Variant	esv3451027
Chromosome Location	chr9:79021447-79056132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:446)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:79049946-79050170	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:79034772-79035067	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:79034793-79035108	K562	blood:	n/a	n/a
4	ARID3A	chr9:79038300-79039325	HepG2	liver:	n/a	n/a
5	ATF2	chr9:79053668-79054176	GM12878	blood:	n/a	n/a
6	ATF2	chr9:79053608-79054305	GM12878	blood:	n/a	n/a
7	BATF	chr9:79053726-79054163	GM12878	blood:	n/a	n/a
8	BATF	chr9:79053859-79054130	GM12878	blood:	n/a	n/a
9	BCL11A	chr9:79029498-79029751	GM12878	blood:	n/a	n/a
10	BCL11A	chr9:79053880-79054156	GM12878	blood:	n/a	n/a
11	BCL11A	chr9:79053717-79054138	GM12878	blood:	n/a	n/a
12	BCL3	chr9:79053720-79054130	GM12878	blood:	n/a	n/a
13	BCLAF1	chr9:79053691-79054175	GM12878	blood:	n/a	n/a
14	BCLAF1	chr9:79053673-79054242	GM12878	blood:	n/a	n/a
15	BHLHE40	chr9:79053749-79054208	GM12878	blood:	n/a	n/a
16	BHLHE40	chr9:79038618-79039067	HepG2	liver:	n/a	n/a
17	CEBPB	chr9:79055289-79055557	HepG2	liver:	n/a	chr9:79055438-79055449
18	CEBPB	chr9:79038816-79039165	MCF-7	breast:	n/a	n/a
19	CEBPB	chr9:79038035-79039190	HepG2	liver:	n/a	n/a
20	CEBPB	chr9:79046673-79046856	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr9:79030663-79030680	IMR90	lung:	n/a	n/a
22	CEBPB	chr9:79038738-79039130	HepG2	liver:	n/a	n/a
23	CEBPB	chr9:79053687-79054205	GM12878	blood:	n/a	n/a
24	CEBPB	chr9:79043890-79044222	A549	lung:	n/a	chr9:79044041-79044052
25	CEBPB	chr9:79033545-79033577	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr9:79038019-79038258	IMR90	lung:	n/a	n/a
27	CEBPB	chr9:79043882-79044186	HepG2	liver:	n/a	chr9:79044041-79044052
28	CEBPB	chr9:79038732-79039069	HepG2	liver:	n/a	n/a
29	CEBPB	chr9:79033441-79033621	HepG2	liver:	n/a	n/a
30	CEBPB	chr9:79048806-79049138	IMR90	lung:	n/a	n/a
31	CEBPB	chr9:79044658-79044736	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr9:79043934-79044151	K562	blood:	n/a	chr9:79044041-79044052
33	CREB1	chr9:79029495-79029997	GM12878	blood:	n/a	n/a
34	CREB1	chr9:79029552-79030006	GM12878	blood:	n/a	n/a
35	CTCF	chr9:79034701-79035017	A549	lung:	n/a	n/a
36	CTCF	chr9:79035300-79035450	GM12878	blood:	n/a	n/a
37	CTCF	chr9:79034820-79034970	HCT-116	colon:	n/a	n/a
38	CTCF	chr9:79034820-79034970	GM12865	blood:	n/a	n/a
39	CTCF	chr9:79034777-79035000	MCF-7	breast:	n/a	n/a
40	CTCF	chr9:79032855-79032898	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr9:79034820-79034970	RPTEC	kidney:	n/a	n/a
42	CTCF	chr9:79053120-79053270	HMEC	breast:	n/a	n/a
43	CTCF	chr9:79034799-79035008	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr9:79034820-79034970	GM06990	blood:	n/a	n/a
45	CTCF	chr9:79034767-79034953	GM19238	blood:	n/a	n/a
46	CTCF	chr9:79034770-79034968	A549	lung:	n/a	n/a
47	CTCF	chr9:79034760-79034910	GM12864	blood:	n/a	n/a
48	CTCF	chr9:79034800-79034950	AG10803	skin:	n/a	n/a
49	CTCF	chr9:79034840-79034990	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr9:79034802-79035011	GM10266	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:79015879..79018411-chr9:79025794..79028344,2	MCF-7	breast:
2	chr9:79009415..79010940-chr9:79022639..79025497,2	K562	blood:
3	chr9:79021966..79023539-chr9:79027726..79029387,2	MCF-7	breast:
4	chr9:79021966..79023539-chr9:79027726..79029387,2	MCF-7	breast:
5	chr9:79008306..79010986-chr9:79027857..79030537,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCSK5-2	chr9:79035488-79035547	NONHSAT131952
2	lnc-PCSK5-3	chr9:79034766-79034803	NONHSAT131951
3	lnc-PCSK5-2	chr9:79034850-79035128	NONHSAT131952

No data

Variant related genes	Relation type
ENSG00000233814	TF binding region
GCNT1	TF binding region
ENSG00000135002	chromatin interactions

Extended variants
information (count: 1268 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1268 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139786940	chr9:79021462-79021463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572978399	chr9:79021481-79021482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191569545	chr9:79021484-79021485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529206272	chr9:79021554-79021555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143158967	chr9:79021604-79021605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12377853	chr9:79021610-79021611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs150162276	chr9:79021624-79021625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184098234	chr9:79021625-79021626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571398497	chr9:79021632-79021633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12377856	chr9:79021650-79021651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141410610	chr9:79021657-79021658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567135685	chr9:79021681-79021682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373616572	chr9:79021686-79021687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544234267	chr9:79021725-79021726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575587192	chr9:79021761-79021762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537887845	chr9:79021773-79021774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371902856	chr9:79021813-79021814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12380522	chr9:79021821-79021822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533079184	chr9:79021850-79021851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12377878	chr9:79021880-79021881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188880938	chr9:79021912-79021913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573809439	chr9:79021938-79021939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13299207	chr9:79021976-79021977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs193195204	chr9:79022032-79022033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57480680	chr9:79022042-79022043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369132855	chr9:79022050-79022051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542271005	chr9:79022070-79022071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531319241	chr9:79022114-79022115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545047812	chr9:79022166-79022167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7029439	chr9:79022184-79022185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564923473	chr9:79022205-79022206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13298404	chr9:79022207-79022208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538109489	chr9:79022209-79022210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12004248	chr9:79022211-79022212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73449819	chr9:79022223-79022224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529504845	chr9:79022351-79022352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549638008	chr9:79022375-79022376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569478868	chr9:79022383-79022384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11791134	chr9:79022453-79022454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557749102	chr9:79022506-79022507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73650210	chr9:79022640-79022641	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs377042809	chr9:79022645-79022646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534032879	chr9:79022670-79022671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs151292623	chr9:79022677-79022678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537412645	chr9:79022695-79022696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79694447	chr9:79022705-79022706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185554517	chr9:79022760-79022761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576277313	chr9:79022771-79022772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs140556631	chr9:79022850-79022851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7049245	chr9:79022906-79022907	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79016000-79023000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:79019000-79027600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr9:79019600-79023000	Weak transcription	GM12878-XiMat	blood
4	chr9:79020000-79023000	Weak transcription	Fetal Intestine Small	intestine
5	chr9:79023000-79023200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr9:79023000-79024600	Enhancers	GM12878-XiMat	blood
7	chr9:79024600-79027600	Weak transcription	GM12878-XiMat	blood
8	chr9:79025400-79027800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:79027600-79028400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr9:79027600-79028600	Enhancers	HUVEC	blood vessel
11	chr9:79027600-79029800	ZNF genes & repeats	GM12878-XiMat	blood
12	chr9:79027800-79028000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:79027800-79028000	Enhancers	Pancreas	Pancrea
14	chr9:79027800-79028000	Enhancers	Hela-S3	cervix
15	chr9:79027800-79028200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:79028000-79029200	Weak transcription	Hela-S3	cervix
17	chr9:79028000-79029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:79028200-79029600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:79028600-79029000	Weak transcription	HUVEC	blood vessel
20	chr9:79029000-79031600	Enhancers	HUVEC	blood vessel
21	chr9:79029200-79031200	Enhancers	NH-A	brain
22	chr9:79029200-79031400	Enhancers	Hela-S3	cervix
23	chr9:79029400-79030200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr9:79029600-79029800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr9:79029600-79030200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:79029600-79030200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr9:79029600-79030400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:79029600-79031200	Enhancers	Osteobl	bone
29	chr9:79029600-79031400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:79029600-79031600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:79029600-79032800	Enhancers	Stomach Mucosa	stomach
32	chr9:79029800-79030000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr9:79029800-79030000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr9:79029800-79030000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:79029800-79030000	Flanking Active TSS	GM12878-XiMat	blood
36	chr9:79029800-79030400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr9:79029800-79031000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:79029800-79031600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr9:79029800-79031600	Enhancers	Pancreas	Pancrea
40	chr9:79029800-79032600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr9:79030000-79030200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr9:79030000-79030200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:79030000-79030200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr9:79030000-79030200	Enhancers	Lung	lung
45	chr9:79030000-79030400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr9:79030000-79030600	Enhancers	GM12878-XiMat	blood
47	chr9:79030000-79031200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:79030000-79032200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr9:79030000-79032600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr9:79030200-79030600	Weak transcription	Primary T cells fromperipheralblood	blood

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