Variant report

Variant	esv2761530
Chromosome Location	chr9:71548497-71559537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:71548216-71549106	GM12878	blood:	n/a	n/a
2	ATF2	chr9:71548349-71548993	GM12878	blood:	n/a	n/a
3	BATF	chr9:71548377-71548631	GM12878	blood:	n/a	n/a
4	BCL3	chr9:71548345-71548717	GM12878	blood:	n/a	n/a
5	BCLAF1	chr9:71548216-71548848	GM12878	blood:	n/a	chr9:71548805-71548814
6	BHLHE40	chr9:71548240-71548736	GM12878	blood:	n/a	n/a
7	CHD1	chr9:71548870-71548946	GM12878	blood:	n/a	n/a
8	CHD2	chr9:71548394-71548777	GM12878	blood:	n/a	n/a
9	EBF1	chr9:71548411-71548890	GM12878	blood:	n/a	n/a
10	ELK1	chr9:71548409-71548683	GM12878	blood:	n/a	n/a
11	EP300	chr9:71548334-71548828	GM12878	blood:	n/a	n/a
12	EP300	chr9:71548369-71548829	GM12878	blood:	n/a	n/a
13	EP300	chr9:71548408-71548769	GM12878	blood:	n/a	n/a
14	FOXM1	chr9:71548248-71549026	GM12878	blood:	n/a	n/a
15	IKZF1	chr9:71548397-71548845	GM12878	blood:	n/a	n/a
16	IRF4	chr9:71548259-71548792	GM12878	blood:	n/a	n/a
17	IRF4	chr9:71548287-71548798	GM12878	blood:	n/a	n/a
18	MAFK	chr9:71549759-71550032	HepG2	liver:	n/a	chr9:71549915-71549930
19	MAFK	chr9:71549801-71549954	HepG2	liver:	n/a	chr9:71549915-71549930
20	MAZ	chr9:71548363-71548701	GM12878	blood:	n/a	n/a
21	MEF2A	chr9:71548319-71548726	GM12878	blood:	n/a	n/a
22	MEF2A	chr9:71548235-71549106	GM12878	blood:	n/a	n/a
23	MEF2C	chr9:71548244-71548846	GM12878	blood:	n/a	n/a
24	MTA3	chr9:71548316-71548980	GM12878	blood:	n/a	n/a
25	MTA3	chr9:71548229-71549199	GM12878	blood:	n/a	n/a
26	MXI1	chr9:71548258-71548698	GM12878	blood:	n/a	n/a
27	NFATC1	chr9:71548218-71548962	GM12878	blood:	n/a	n/a
28	NFIC	chr9:71548200-71549139	GM12878	blood:	n/a	n/a
29	NFIC	chr9:71548173-71549015	GM12878	blood:	n/a	n/a
30	PAX5	chr9:71548324-71548670	GM12878	blood:	n/a	n/a
31	PAX5	chr9:71548347-71548641	GM12891	blood:	n/a	n/a
32	PAX5	chr9:71548190-71548803	GM12878	blood:	n/a	n/a
33	PAX5	chr9:71548389-71548661	GM12878	blood:	n/a	n/a
34	PAX5	chr9:71548359-71548645	GM12878	blood:	n/a	n/a
35	POLR2A	chr9:71555439-71556061	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr9:71557957-71557966	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr9:71554769-71554907	K562	blood:	n/a	n/a
38	POLR2A	chr9:71554996-71555070	GM12878	blood:	n/a	n/a
39	POLR2A	chr9:71555427-71555943	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr9:71548323-71548730	GM12892	blood:	n/a	n/a
41	POLR2A	chr9:71557934-71557954	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr9:71558815-71558907	MCF10A-Er-Src	breast:	n/a	n/a
43	POU2F2	chr9:71548368-71548672	GM12891	blood:	n/a	n/a
44	RAD21	chr9:71548368-71548613	GM12878	blood:	n/a	n/a
45	RCOR1	chr9:71548328-71548807	GM12878	blood:	n/a	n/a
46	RELA	chr9:71548298-71549463	GM19099	blood:	n/a	n/a
47	RFX5	chr9:71548792-71548992	GM12878	blood:	n/a	n/a
48	RUNX3	chr9:71548241-71548937	GM12878	blood:	n/a	n/a
49	RUNX3	chr9:71548195-71548964	GM12878	blood:	n/a	n/a
50	SMC3	chr9:71548315-71548752	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:71545273..71547947-chr9:71556049..71558568,2	MCF-7	breast:
2	chr9:71491880..71494040-chr9:71553268..71555351,2	K562	blood:
3	chr9:71546260..71548319-chr9:71558934..71561181,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-820P	TF binding region

Extended variants
information (count: 431 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:431 , 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	rs7024257	chr9:71548497-71548498	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4745400	chr9:71548554-71548555	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576260218	chr9:71548616-71548617	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187935158	chr9:71548639-71548640	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192824965	chr9:71548694-71548695	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs551749859	chr9:71548706-71548707	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564650877	chr9:71548735-71548736	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138137603	chr9:71548756-71548757	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs533702863	chr9:71548780-71548781	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77760083	chr9:71548834-71548835	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs57032203	chr9:71548882-71548883	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547279657	chr9:71548893-71548894	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs78724665	chr9:71548894-71548895	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12001018	chr9:71548935-71548936	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557222594	chr9:71548939-71548940	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs528042042	chr9:71548968-71548969	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75760882	chr9:71548981-71548982	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs10117400	chr9:71549001-71549002	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77791286	chr9:71549041-71549042	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74841868	chr9:71549073-71549074	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536726099	chr9:71549089-71549090	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs17059238	chr9:71549142-71549143	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553596688	chr9:71549202-71549203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574827180	chr9:71549204-71549205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72722034	chr9:71549220-71549221	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563584844	chr9:71549221-71549222	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187872366	chr9:71549227-71549228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545839161	chr9:71549245-71549246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564050590	chr9:71549259-71549260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144113742	chr9:71549353-71549354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115493946	chr9:71549394-71549395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17406856	chr9:71549395-71549396	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12339090	chr9:71549411-71549412	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146896835	chr9:71549418-71549419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192943813	chr9:71549463-71549464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184305815	chr9:71549477-71549478	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545195734	chr9:71549478-71549479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151295423	chr9:71549530-71549531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199537104	chr9:71549532-71549533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397822803	chr9:71549535-71549536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570872231	chr9:71549543-71549544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139246070	chr9:71549574-71549575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143168412	chr9:71549605-71549606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367641994	chr9:71549629-71549630	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144781218	chr9:71549630-71549631	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372898141	chr9:71549683-71549684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557238345	chr9:71549722-71549723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373443925	chr9:71549769-71549770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374294249	chr9:71549775-71549776	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377767165	chr9:71549782-71549783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Melanoma	22183965	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
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	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
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71510400-71576200	Weak transcription	Stomach Mucosa	stomach
2	chr9:71512200-71548800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:71514200-71553600	Weak transcription	Aorta	Aorta
4	chr9:71514200-71557800	Weak transcription	Lung	lung
5	chr9:71519400-71573000	Weak transcription	Gastric	stomach
6	chr9:71532800-71556800	Weak transcription	Right Ventricle	heart
7	chr9:71535000-71569600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:71535200-71555400	Weak transcription	Left Ventricle	heart
9	chr9:71536600-71557400	Weak transcription	Colonic Mucosa	Colon
10	chr9:71542000-71551600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:71542200-71564400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:71542400-71549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:71542400-71549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:71543000-71553600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:71545000-71561600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:71545200-71553600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:71545400-71549600	Weak transcription	Fetal Intestine Small	intestine
18	chr9:71545400-71553600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:71545400-71553600	Weak transcription	HepG2	liver
20	chr9:71545400-71562400	Weak transcription	K562	blood
21	chr9:71546800-71548800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr9:71546800-71561000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:71547200-71548600	Weak transcription	Primary B cells from cord blood	blood
24	chr9:71547200-71557400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr9:71547600-71548800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr9:71547600-71549200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr9:71547800-71550000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr9:71547800-71553400	Weak transcription	Fetal Intestine Large	intestine
29	chr9:71548000-71548600	Active TSS	GM12878-XiMat	blood
30	chr9:71548000-71548800	Weak transcription	Pancreas	Pancrea
31	chr9:71548000-71549000	Enhancers	Primary B cells from peripheral blood	blood
32	chr9:71548000-71549800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr9:71548400-71549200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:71548400-71549200	Enhancers	Fetal Stomach	stomach
35	chr9:71548400-71549600	Enhancers	Fetal Kidney	kidney
36	chr9:71548600-71548800	Enhancers	Placenta	Placenta
37	chr9:71548600-71549000	Enhancers	Primary B cells from cord blood	blood
38	chr9:71548600-71549200	Flanking Active TSS	GM12878-XiMat	blood
39	chr9:71548800-71549000	Weak transcription	Fetal Heart	heart
40	chr9:71548800-71549200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr9:71548800-71549200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr9:71548800-71549400	Enhancers	Colon Smooth Muscle	Colon
43	chr9:71548800-71550400	Enhancers	Pancreas	Pancrea
44	chr9:71548800-71555600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr9:71548800-71564200	Weak transcription	Placenta	Placenta
46	chr9:71549000-71549200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:71549000-71549200	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr9:71549000-71549200	Enhancers	Fetal Heart	heart
49	chr9:71549000-71553800	Weak transcription	Primary B cells from cord blood	blood
50	chr9:71549200-71549800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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