Variant report

Variant	esv3411330
Chromosome Location	chr1:158656386-158656691
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	chr1:158656270-158657331	K562	blood:	n/a	n/a
2	ATF1	chr1:158656332-158656676	K562	blood:	n/a	n/a
3	ATF3	chr1:158656295-158656679	K562	blood:	n/a	n/a
4	BACH1	chr1:158655817-158657137	K562	blood:	n/a	n/a
5	BACH1	chr1:158656378-158656622	H1-hESC	embryonic stem cell:	n/a	n/a
6	CCNT2	chr1:158656386-158656746	K562	blood:	n/a	n/a
7	CEBPB	chr1:158656117-158657013	K562	blood:	n/a	n/a
8	CEBPB	chr1:158656281-158656794	K562	blood:	n/a	n/a
9	CEBPD	chr1:158656260-158656754	K562	blood:	n/a	n/a
10	CEBPD	chr1:158656224-158656767	K562	blood:	n/a	n/a
11	CUX1	chr1:158655832-158656814	K562	blood:	n/a	n/a
12	EP300	chr1:158655900-158656836	GM12878	blood:	n/a	n/a
13	EP300	chr1:158655784-158657475	K562	blood:	n/a	chr1:158657234-158657248
14	EP300	chr1:158656203-158656703	K562	blood:	n/a	n/a
15	FOS	chr1:158656531-158656581	MCF10A-Er-Src	breast:	n/a	chr1:158656543-158656553 chr1:158656543-158656553 chr1:158656544-158656552 chr1:158656543-158656553 chr1:158656542-158656554
16	GATA1	chr1:158655836-158657462	PBDE	blood:	n/a	n/a
17	GATA2	chr1:158656243-158656695	K562	blood:	n/a	n/a
18	GTF2B	chr1:158656388-158656588	K562	blood:	n/a	n/a
19	HEY1	chr1:158656358-158656562	K562	blood:	n/a	n/a
20	HMGN3	chr1:158656384-158656622	K562	blood:	n/a	chr1:158656542-158656551
21	IRF1	chr1:158656326-158656737	K562	blood:	n/a	chr1:158656597-158656611 chr1:158656599-158656610 chr1:158656598-158656612 chr1:158656598-158656608 chr1:158656598-158656609
22	IRF1	chr1:158654489-158657481	K562	blood:	n/a	chr1:158657050-158657060 chr1:158657049-158657063 chr1:158657049-158657061 chr1:158656597-158656611 chr1:158656599-158656610 chr1:158656598-158656612 chr1:158656598-158656608 chr1:158657050-158657064 chr1:158654494-158654506 chr1:158657050-158657061 chr1:158657048-158657061 chr1:158656598-158656609 chr1:158657048-158657061
23	IRF1	chr1:158655563-158657227	K562	blood:	n/a	chr1:158657050-158657060 chr1:158657049-158657063 chr1:158657049-158657061 chr1:158656597-158656611 chr1:158656599-158656610 chr1:158656598-158656612 chr1:158656598-158656608 chr1:158657050-158657064 chr1:158657050-158657061 chr1:158657048-158657061 chr1:158656598-158656609 chr1:158657048-158657061
24	JUN	chr1:158656221-158656790	K562	blood:	n/a	chr1:158656543-158656553 chr1:158656573-158656585 chr1:158656543-158656553 chr1:158656544-158656552 chr1:158656543-158656553 chr1:158656542-158656554
25	JUND	chr1:158656274-158656751	K562	blood:	n/a	chr1:158656543-158656553 chr1:158656573-158656585 chr1:158656543-158656553 chr1:158656544-158656552 chr1:158656543-158656553 chr1:158656542-158656554
26	MAFF	chr1:158656296-158656839	K562	blood:	n/a	chr1:158656542-158656560
27	MAFF	chr1:158656373-158656688	HepG2	liver:	n/a	chr1:158656542-158656560
28	MAFK	chr1:158656370-158656726	HepG2	liver:	n/a	chr1:158656546-158656560 chr1:158656548-158656559 chr1:158656547-158656558 chr1:158656544-158656554 chr1:158656548-158656559 chr1:158656543-158656558 chr1:158656545-158656554 chr1:158656547-158656558
29	MAFK	chr1:158656389-158656680	HepG2	liver:	n/a	chr1:158656546-158656560 chr1:158656548-158656559 chr1:158656547-158656558 chr1:158656544-158656554 chr1:158656548-158656559 chr1:158656543-158656558 chr1:158656545-158656554 chr1:158656547-158656558
30	MAFK	chr1:158655841-158656761	K562	blood:	n/a	chr1:158656546-158656560 chr1:158656548-158656559 chr1:158656547-158656558 chr1:158656544-158656554 chr1:158656548-158656559 chr1:158656543-158656558 chr1:158656545-158656554 chr1:158656547-158656558
31	MAFK	chr1:158656420-158656706	H1-hESC	embryonic stem cell:	n/a	chr1:158656546-158656560 chr1:158656548-158656559 chr1:158656547-158656558 chr1:158656544-158656554 chr1:158656548-158656559 chr1:158656543-158656558 chr1:158656545-158656554 chr1:158656547-158656558
32	MAFK	chr1:158656360-158656723	IMR90	lung:	n/a	chr1:158656546-158656560 chr1:158656548-158656559 chr1:158656547-158656558 chr1:158656544-158656554 chr1:158656548-158656559 chr1:158656543-158656558 chr1:158656545-158656554 chr1:158656547-158656558
33	NFE2	chr1:158656365-158656729	K562	blood:	n/a	chr1:158656543-158656558 chr1:158656544-158656554 chr1:158656544-158656553 chr1:158656545-158656555
34	POLR2A	chr1:158656258-158656727	K562	blood:	n/a	n/a
35	POLR2A	chr1:158656371-158656684	K562	blood:	n/a	n/a
36	POLR2A	chr1:158655573-158657125	PBDE	blood:	n/a	n/a
37	POLR2A	chr1:158656292-158656586	K562	blood:	n/a	n/a
38	POLR2A	chr1:158656235-158656596	K562	blood:	n/a	n/a
39	RCOR1	chr1:158656013-158656737	K562	blood:	n/a	n/a
40	STAT5A	chr1:158656311-158656631	K562	blood:	n/a	chr1:158656598-158656609
41	TAL1	chr1:158656111-158656730	K562	blood:	n/a	n/a
42	TBL1XR1	chr1:158655731-158657204	K562	blood:	n/a	n/a
43	TBP	chr1:158655926-158656705	K562	blood:	n/a	n/a
44	TEAD4	chr1:158656216-158656714	K562	blood:	n/a	n/a
45	TEAD4	chr1:158656257-158656749	K562	blood:	n/a	n/a
46	TRIM28	chr1:158656223-158656734	K562	blood:	n/a	n/a
47	YY1	chr1:158656361-158656598	K562	blood:	n/a	n/a
48	ZMIZ1	chr1:158656319-158656723	K562	blood:	n/a	n/a
49	ZNF384	chr1:158656092-158656699	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158656464..158659384-chr1:159045094..159048407,3	K562	blood:

Variant related genes	Relation type
SPTA1	TF binding region
ENSG00000163568	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565248101	chr1:158656412-158656413	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs368830436	chr1:158656427-158656428	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs59027997	chr1:158656432-158656433	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs368011566	chr1:158656433-158656434	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs550754566	chr1:158656436-158656437	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs386368442	chr1:158656437-158656438	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs386368443	chr1:158656439-158656440	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374043072	chr1:158656442-158656443	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs34783066	chr1:158656443-158656444	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs185621042	chr1:158656444-158656445	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs187654461	chr1:158656445-158656446	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs146375927	chr1:158656454-158656455	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs569346192	chr1:158656522-158656523	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs367947531	chr1:158656530-158656531	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs16840548	chr1:158656560-158656561	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572110340	chr1:158656561-158656562	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs139689230	chr1:158656564-158656565	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536992784	chr1:158656574-158656575	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs566361869	chr1:158656617-158656618	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs61403090	chr1:158656632-158656633	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200475602	chr1:158656640-158656641	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs398103276	chr1:158656641-158656642	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs12096998	chr1:158656642-158656643	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs452233	chr1:158656653-158656654	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192303421	chr1:158656674-158656675	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158655200-158657000	Active TSS	K562	blood
2	chr1:158655800-158657000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:158656000-158656600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:158656000-158656800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:158656200-158656400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:158656200-158656400	Enhancers	A549	lung
7	chr1:158656200-158656600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:158656200-158656800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:158656200-158657000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:158656400-158657200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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