Variant report

Variant	esv3451759
Chromosome Location	chr1:9566735-9590683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:195)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:195 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:9589270-9589609	K562	blood:	n/a	n/a
2	ATF1	chr1:9582496-9582824	K562	blood:	n/a	n/a
3	ATF3	chr1:9589265-9589631	K562	blood:	n/a	chr1:9589433-9589446
4	ATF3	chr1:9589288-9589498	K562	blood:	n/a	chr1:9589433-9589446
5	BACH1	chr1:9582613-9582680	K562	blood:	n/a	n/a
6	BHLHE40	chr1:9589256-9589544	K562	blood:	n/a	n/a
7	CBX3	chr1:9590385-9590697	K562	blood:	n/a	n/a
8	CBX3	chr1:9589315-9589578	K562	blood:	n/a	n/a
9	CBX3	chr1:9589157-9589691	K562	blood:	n/a	n/a
10	CBX3	chr1:9572741-9573046	K562	blood:	n/a	n/a
11	CEBPB	chr1:9577274-9577503	A549	lung:	n/a	chr1:9577436-9577447
12	CEBPB	chr1:9589946-9590370	MCF-7	breast:	n/a	n/a
13	CEBPB	chr1:9589477-9589641	K562	blood:	n/a	n/a
14	CEBPB	chr1:9571220-9571428	HepG2	liver:	n/a	chr1:9571350-9571361
15	CEBPB	chr1:9576340-9576727	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr1:9585056-9585251	K562	blood:	n/a	n/a
17	CEBPB	chr1:9589980-9590305	A549	lung:	n/a	n/a
18	CEBPB	chr1:9577242-9577624	K562	blood:	n/a	chr1:9577436-9577447
19	CEBPB	chr1:9589975-9590157	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:9577410-9577501	H1-hESC	embryonic stem cell:	n/a	chr1:9577436-9577447
21	CEBPB	chr1:9577276-9577531	Hela-S3	cervix:	n/a	chr1:9577436-9577447
22	CEBPB	chr1:9577253-9577564	K562	blood:	n/a	chr1:9577436-9577447
23	CEBPB	chr1:9571266-9571433	K562	blood:	n/a	chr1:9571350-9571361
24	CEBPB	chr1:9590058-9590199	HepG2	liver:	n/a	n/a
25	CEBPB	chr1:9589957-9590314	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:9568142-9568342	IMR90	lung:	n/a	chr1:9568280-9568291
27	CEBPB	chr1:9571320-9571488	H1-hESC	embryonic stem cell:	n/a	chr1:9571350-9571361
28	CEBPB	chr1:9571182-9571532	K562	blood:	n/a	chr1:9571350-9571361
29	CEBPB	chr1:9589951-9590325	K562	blood:	n/a	n/a
30	CEBPB	chr1:9584385-9584466	HepG2	liver:	n/a	chr1:9584439-9584450
31	CEBPB	chr1:9568158-9568419	K562	blood:	n/a	chr1:9568280-9568291
32	CEBPB	chr1:9568163-9568335	A549	lung:	n/a	chr1:9568280-9568291
33	CEBPB	chr1:9571183-9571528	HepG2	liver:	n/a	chr1:9571350-9571361
34	CEBPB	chr1:9577261-9577599	HepG2	liver:	n/a	chr1:9577436-9577447
35	CEBPB	chr1:9568164-9568351	HepG2	liver:	n/a	chr1:9568280-9568291
36	CEBPB	chr1:9589946-9590319	K562	blood:	n/a	n/a
37	CEBPB	chr1:9589959-9590281	IMR90	lung:	n/a	n/a
38	CEBPB	chr1:9577278-9577557	IMR90	lung:	n/a	chr1:9577436-9577447
39	CEBPB	chr1:9571177-9571498	K562	blood:	n/a	chr1:9571350-9571361
40	CREB1	chr1:9582415-9582864	K562	blood:	n/a	n/a
41	CREB1	chr1:9582461-9582928	K562	blood:	n/a	n/a
42	CREB1	chr1:9589237-9589684	GM12878	blood:	n/a	n/a
43	CREB1	chr1:9589218-9589667	K562	blood:	n/a	n/a
44	CTCF	chr1:9582200-9582350	K562	blood:	n/a	n/a
45	CTCF	chr1:9589360-9589510	GM12873	blood:	n/a	n/a
46	CTCF	chr1:9589340-9589490	HepG2	liver:	n/a	n/a
47	CUX1	chr1:9573292-9573428	K562	blood:	n/a	n/a
48	CUX1	chr1:9589311-9589418	K562	blood:	n/a	n/a
49	E2F6	chr1:9580503-9580664	K562	blood:	n/a	n/a
50	EGR1	chr1:9589246-9589618	K562	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:9588957..9591794-chr1:9592247..9595158,3	K562	blood:
2	chr1:9588042..9590457-chr1:9592247..9594686,2	K562	blood:
3	chr1:9587530..9590240-chr1:9598858..9600844,2	MCF-7	breast:
4	chr1:9572733..9575985-chr1:9578486..9581199,3	K562	blood:
5	chr1:9587010..9589066-chr1:9600375..9602701,2	K562	blood:
6	chr1:9587010..9589286-chr1:9599460..9602701,3	K562	blood:
7	chr1:9572733..9575985-chr1:9578486..9581199,3	K562	blood:
8	chr1:9581356..9583621-chr1:9587522..9590358,2	K562	blood:
9	chr1:9565037..9567087-chr1:9570067..9571668,2	K562	blood:
10	chr1:9585423..9586944-chr1:9587293..9590310,3	K562	blood:
11	chr1:9589297..9593033-chr1:9598023..9601715,4	K562	blood:
12	chr1:9565037..9567087-chr1:9570067..9571668,2	K562	blood:
13	chr1:9582121..9584337-chr1:9586502..9589022,2	K562	blood:
14	chr1:9586876..9589181-chr1:9596662..9599409,2	K562	blood:
15	chr1:9589698..9594736-chr1:9596455..9600782,9	K562	blood:
16	chr1:9582121..9584337-chr1:9586502..9589022,2	K562	blood:
17	chr1:9581356..9583621-chr1:9587522..9590358,2	K562	blood:
18	chr1:9585423..9586944-chr1:9587293..9590310,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235263	TF binding region
ENSG00000171612	chromatin interactions

Extended variants
information (count: 951 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:951 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564913238	chr1:9566833-9566834	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs368940908	chr1:9566839-9566840	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs563041222	chr1:9566842-9566843	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs545893485	chr1:9566861-9566862	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs192814610	chr1:9566907-9566908	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs146349726	chr1:9566911-9566912	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs564261227	chr1:9566940-9566941	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs12405849	chr1:9566961-9566962	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376633931	chr1:9567022-9567023	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs565972738	chr1:9567023-9567024	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs75297936	chr1:9567035-9567036	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs115719501	chr1:9567068-9567069	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs548747356	chr1:9567108-9567109	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570154246	chr1:9567121-9567122	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs569012049	chr1:9567139-9567140	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs184925010	chr1:9567145-9567146	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs548391765	chr1:9567190-9567191	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs150053660	chr1:9567202-9567203	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570991501	chr1:9567204-9567205	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535042898	chr1:9567209-9567210	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553609206	chr1:9567217-9567218	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs113467195	chr1:9567239-9567240	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs369645351	chr1:9567277-9567278	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs376940940	chr1:9567300-9567301	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535075888	chr1:9567338-9567339	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534108066	chr1:9567346-9567347	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs556501273	chr1:9567372-9567373	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs558531120	chr1:9567375-9567376	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs187169640	chr1:9567377-9567378	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs191668284	chr1:9567401-9567402	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs116162522	chr1:9567451-9567452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs564140692	chr1:9567461-9567462	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs572976488	chr1:9567527-9567528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs540183505	chr1:9567548-9567549	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs183726837	chr1:9567571-9567572	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs530157400	chr1:9567594-9567595	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs548611588	chr1:9567632-9567633	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs11121434	chr1:9567671-9567672	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs538694523	chr1:9567740-9567741	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs563625965	chr1:9567788-9567789	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs12755956	chr1:9567789-9567790	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs112701126	chr1:9567811-9567812	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs552626167	chr1:9567812-9567813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs12087080	chr1:9567831-9567832	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs570986640	chr1:9567841-9567842	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs575369910	chr1:9567854-9567855	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs188089744	chr1:9567999-9568000	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs536326272	chr1:9568050-9568051	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs547018907	chr1:9568055-9568056	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182449085	chr1:9568107-9568108	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9555800-9599400	Weak transcription	Right Atrium	heart
2	chr1:9566000-9570200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:9566400-9566800	Enhancers	Liver	Liver
4	chr1:9566600-9566800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:9566800-9571200	Weak transcription	Liver	Liver
6	chr1:9570200-9570400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:9570200-9570600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:9570200-9570600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:9570200-9570600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:9570600-9580400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:9571200-9571600	Enhancers	Liver	Liver
12	chr1:9571200-9571600	Active TSS	HepG2	liver
13	chr1:9571400-9571600	Bivalent Enhancer	Placenta	Placenta
14	chr1:9571600-9571800	Enhancers	Placenta	Placenta
15	chr1:9571600-9571800	Flanking Active TSS	HepG2	liver
16	chr1:9571600-9572800	Weak transcription	Liver	Liver
17	chr1:9571800-9572600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:9571800-9575600	Weak transcription	HepG2	liver
19	chr1:9573200-9573400	Enhancers	Liver	Liver
20	chr1:9575600-9576000	Enhancers	HepG2	liver
21	chr1:9576000-9576200	Weak transcription	HepG2	liver
22	chr1:9576200-9577600	Enhancers	HepG2	liver
23	chr1:9576400-9576800	Enhancers	Dnd41	blood
24	chr1:9578400-9581000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:9578600-9579000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:9578800-9580800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:9579000-9590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:9579400-9579600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr1:9579400-9579600	Bivalent/Poised TSS	HSMM	muscle
30	chr1:9579800-9581000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:9580000-9580800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:9580200-9580800	Active TSS	Spleen	Spleen
33	chr1:9580400-9580600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr1:9580400-9581000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:9580400-9581000	Enhancers	HepG2	liver
36	chr1:9580600-9580800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:9580600-9581000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:9580600-9581000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:9580600-9581000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:9581000-9581400	Weak transcription	HepG2	liver
41	chr1:9581000-9587000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:9581400-9581600	Enhancers	HepG2	liver
43	chr1:9581600-9585400	Weak transcription	HepG2	liver
44	chr1:9582400-9582600	Active TSS	K562	blood
45	chr1:9582600-9582800	Flanking Active TSS	K562	blood
46	chr1:9582800-9583000	Enhancers	K562	blood
47	chr1:9583000-9585200	Weak transcription	K562	blood
48	chr1:9585000-9586800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:9585000-9587200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr1:9585200-9585400	Enhancers	K562	blood

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