Variant report

Variant	esv2759704
Chromosome Location	chr9:104637950-104825559
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	chr9:104656203-104656979	K562	blood:	n/a	n/a
2	ARID3A	chr9:104689227-104689231	K562	blood:	n/a	n/a
3	ATF1	chr9:104667150-104667409	K562	blood:	n/a	n/a
4	ATF1	chr9:104692769-104692902	K562	blood:	n/a	n/a
5	BACH1	chr9:104666707-104666740	K562	blood:	n/a	n/a
6	BHLHE40	chr9:104808797-104808879	HepG2	liver:	n/a	n/a
7	BHLHE40	chr9:104641860-104641886	GM12878	blood:	n/a	n/a
8	BHLHE40	chr9:104656000-104656660	K562	blood:	n/a	n/a
9	BHLHE40	chr9:104693595-104693643	GM12878	blood:	n/a	n/a
10	CBX3	chr9:104656265-104656906	K562	blood:	n/a	n/a
11	CCNT2	chr9:104656253-104656608	K562	blood:	n/a	n/a
12	CEBPB	chr9:104684397-104684686	IMR90	lung:	n/a	chr9:104684525-104684534 chr9:104684523-104684536
13	CEBPB	chr9:104695306-104695416	HepG2	liver:	n/a	n/a
14	CEBPB	chr9:104804246-104804649	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr9:104795979-104796078	HepG2	liver:	n/a	chr9:104796033-104796044 chr9:104796032-104796045
16	CEBPB	chr9:104707632-104707710	A549	lung:	n/a	n/a
17	CEBPB	chr9:104652997-104653341	K562	blood:	n/a	chr9:104653155-104653166 chr9:104653155-104653168
18	CEBPB	chr9:104684467-104684629	H1-hESC	embryonic stem cell:	n/a	chr9:104684525-104684534 chr9:104684523-104684536
19	CEBPB	chr9:104714171-104714210	HepG2	liver:	n/a	n/a
20	CEBPB	chr9:104820520-104820527	A549	lung:	n/a	n/a
21	CEBPB	chr9:104757408-104758008	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr9:104725632-104725661	HepG2	liver:	n/a	chr9:104725637-104725648
23	CEBPB	chr9:104643971-104644157	K562	blood:	n/a	n/a
24	CEBPB	chr9:104770107-104770211	A549	lung:	n/a	n/a
25	CEBPB	chr9:104653098-104653298	HepG2	liver:	n/a	chr9:104653155-104653166 chr9:104653155-104653168
26	CEBPB	chr9:104714121-104714184	K562	blood:	n/a	n/a
27	CEBPB	chr9:104684384-104684709	K562	blood:	n/a	chr9:104684525-104684534 chr9:104684523-104684536
28	CEBPB	chr9:104688976-104689041	K562	blood:	n/a	n/a
29	CEBPB	chr9:104726861-104727114	A549	lung:	n/a	chr9:104726984-104726995 chr9:104727014-104727025
30	CEBPB	chr9:104643934-104644220	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr9:104657056-104657181	K562	blood:	n/a	n/a
32	CEBPB	chr9:104726921-104727121	HepG2	liver:	n/a	chr9:104726984-104726995 chr9:104727014-104727025
33	CEBPD	chr9:104656187-104656736	K562	blood:	n/a	n/a
34	CEBPD	chr9:104656243-104656652	K562	blood:	n/a	n/a
35	CTCF	chr9:104739982-104740173	GM20000	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
36	CTCF	chr9:104714097-104714118	MCF-7	breast:	n/a	n/a
37	CTCF	chr9:104740039-104740112	GM13976	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
38	CTCF	chr9:104735169-104735323	LNCaP	prostate:	n/a	chr9:104735238-104735256 chr9:104735240-104735253
39	CTCF	chr9:104722140-104722290	MCF-7	breast:	n/a	chr9:104722218-104722239
40	CTCF	chr9:104739994-104740193	LNCaP	prostate:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
41	CTCF	chr9:104740000-104740150	GM12865	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
42	CTCF	chr9:104740000-104740150	GM12864	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
43	CTCF	chr9:104714077-104714177	K562	blood:	n/a	n/a
44	CTCF	chr9:104739900-104740050	BE2_C	brain:	n/a	n/a
45	CTCF	chr9:104722140-104722290	HRE	kidney:	n/a	chr9:104722218-104722239
46	CTCF	chr9:104740002-104740165	LNCaP	prostate:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
47	CTCF	chr9:104739940-104740225	Medullo	brain:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
48	CTCF	chr9:104739740-104739890	HCFaa	heart:	n/a	n/a
49	CTCF	chr9:104740343-104740373	GM13977	blood:	n/a	n/a
50	CTCF	chr9:104740020-104740170	WERI-Rb-1	eye:	n/a	chr9:104740080-104740101 chr9:104740079-104740095

No.	Distal block	Cell Line	Cell type
1	chr9:104554048..104554859-chr9:104734774..104735456,4	MCF-7	breast:
2	chr9:104719927..104722291-chr9:104723715..104725489,2	K562	blood:
3	chr9:104651692..104653674-chr9:104654831..104656536,3	K562	blood:
4	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
5	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:
6	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
7	chr9:104719927..104722291-chr9:104723715..104725489,2	K562	blood:
8	chr9:104658581..104661092-chr9:104661771..104663841,2	K562	blood:
9	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:
10	chr9:104656494..104659292-chr9:104659378..104660947,2	K562	blood:
11	chr9:104707981..104710743-chr9:104711149..104712879,2	K562	blood:
12	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
13	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:
14	chr9:104703090..104705673-chr9:104707089..104708983,2	MCF-7	breast:
15	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:
16	chr9:104656494..104659292-chr9:104659378..104660947,2	K562	blood:
17	chr10:86116689..86117545-chr9:104638316..104638864,2	MCF-7	breast:
18	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
19	chr9:104712078..104714404-chr9:104717443..104718985,2	K562	blood:
20	chr9:104602976..104605098-chr9:104654861..104656583,2	K562	blood:
21	chr9:104658581..104661092-chr9:104661771..104663841,2	K562	blood:
22	chr8:142134647..142136266-chr9:104766043..104767800,2	MCF-7	breast:
23	chr9:104707981..104710743-chr9:104711149..104712879,2	K562	blood:
24	chr9:104662236..104665131-chr9:104665548..104668439,2	K562	blood:
25	chr9:104712078..104714404-chr9:104717443..104718985,2	K562	blood:
26	chr9:104651692..104653674-chr9:104654831..104656536,3	K562	blood:
27	chr9:104662236..104665131-chr9:104665548..104668439,2	K562	blood:
28	chr9:104703090..104705673-chr9:104707089..104708983,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf107-7	chr9:104811295-104811420	NONHSAT133754
2	lnc-RNF20-2	chr9:104654473-104654712	XLOC_007493
3	lnc-C9orf107-7	chr9:104810504-104810756	NONHSAT133754
4	lnc-GRIN3A-2	chr9:104817534-104818023	NONHSAT133755
5	lnc-RNF20-2	chr9:104652669-104652689	XLOC_007493

Variant related genes	Relation type
ARL2BPP7	TF binding region

Extended variants
information (count: 3122 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:3122 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10989672	chr9:104637950-104637951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371103122	chr9:104638010-104638011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10989673	chr9:104638025-104638026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554565331	chr9:104638043-104638044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531802784	chr9:104638061-104638062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10989674	chr9:104638067-104638068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543515841	chr9:104638111-104638112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145794364	chr9:104638123-104638124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576954147	chr9:104638157-104638158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552530311	chr9:104638182-104638183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568193218	chr9:104638224-104638225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546024486	chr9:104638225-104638226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10989675	chr9:104638232-104638233	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528328274	chr9:104638234-104638235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541734728	chr9:104638252-104638253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10989676	chr9:104638271-104638272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530061358	chr9:104638307-104638308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549995164	chr9:104638321-104638322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570174944	chr9:104638332-104638333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148561654	chr9:104638346-104638347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552693551	chr9:104638357-104638358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191487804	chr9:104638402-104638403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182058595	chr9:104638404-104638405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142950186	chr9:104638477-104638478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76443297	chr9:104638498-104638499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376833697	chr9:104638499-104638500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10989677	chr9:104638510-104638511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537090418	chr9:104638514-104638515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534045304	chr9:104638571-104638572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558567154	chr9:104638587-104638588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556777646	chr9:104638621-104638622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371960317	chr9:104638631-104638632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7873331	chr9:104638649-104638650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545588151	chr9:104638702-104638703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186224169	chr9:104638721-104638722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553096152	chr9:104638739-104638740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572719760	chr9:104638823-104638824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541695896	chr9:104638851-104638852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146648512	chr9:104638894-104638895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386736887	chr9:104638950-104638951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10989679	chr9:104638952-104638953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182062440	chr9:104638966-104638967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115177325	chr9:104639039-104639040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140786297	chr9:104639053-104639054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566250200	chr9:104639064-104639065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144620368	chr9:104639069-104639070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537624277	chr9:104639074-104639075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113815660	chr9:104639093-104639094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186649141	chr9:104639097-104639098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556874780	chr9:104639108-104639109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104637600-104638000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr9:104637600-104638400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr9:104637600-104638800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr9:104637800-104638200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:104637800-104638800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:104638000-104638800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:104638200-104638800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr9:104638800-104643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:104638800-104643200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:104640600-104641000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:104642000-104642200	Enhancers	K562	blood
12	chr9:104643200-104644000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr9:104643200-104644000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:104643800-104644200	Enhancers	K562	blood
15	chr9:104647200-104648000	Enhancers	Fetal Intestine Small	intestine
16	chr9:104648000-104651400	Weak transcription	Fetal Intestine Small	intestine
17	chr9:104651400-104652400	Enhancers	Fetal Intestine Small	intestine
18	chr9:104652400-104654800	Weak transcription	Fetal Intestine Small	intestine
19	chr9:104654800-104660800	Enhancers	Fetal Intestine Small	intestine
20	chr9:104655000-104660800	Enhancers	Fetal Intestine Large	intestine
21	chr9:104655400-104657000	Enhancers	Liver	Liver
22	chr9:104655800-104656000	Enhancers	K562	blood
23	chr9:104655800-104656800	Enhancers	Duodenum Mucosa	Duodenum
24	chr9:104656000-104656800	Flanking Active TSS	K562	blood
25	chr9:104656800-104657400	Enhancers	K562	blood
26	chr9:104657400-104667200	Weak transcription	K562	blood
27	chr9:104664000-104665200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:104664200-104665000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:104667200-104667600	Enhancers	K562	blood
30	chr9:104667800-104669600	Enhancers	Adipose Nuclei	Adipose
31	chr9:104668800-104669600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:104669000-104670200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr9:104669200-104669400	Active TSS	Pancreas	Pancrea
34	chr9:104669400-104669600	Flanking Active TSS	Pancreas	Pancrea
35	chr9:104669600-104674800	Weak transcription	Adipose Nuclei	Adipose
36	chr9:104673000-104673800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:104673800-104674200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:104674200-104675000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:104674800-104675000	Enhancers	Adipose Nuclei	Adipose
40	chr9:104675000-104677200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:104675000-104677200	Weak transcription	Adipose Nuclei	Adipose
42	chr9:104677200-104677800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:104677200-104677800	Enhancers	Adipose Nuclei	Adipose
44	chr9:104677200-104677800	Active TSS	Gastric	stomach
45	chr9:104677400-104677800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:104677400-104677800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:104678600-104680200	Weak transcription	Liver	Liver
48	chr9:104680200-104681000	Strong transcription	Liver	Liver
49	chr9:104681000-104687800	Weak transcription	Liver	Liver
50	chr9:104681200-104681800	Enhancers	Fetal Heart	heart

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