Variant report

Variant	esv3362823
Chromosome Location	chr1:227614079-227616077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:227615190-227615851	A549	lung:	n/a	chr1:227615658-227615671
2	CEBPB	chr1:227615276-227615775	K562	blood:	n/a	chr1:227615658-227615671
3	EP300	chr1:227615126-227615230	K562	blood:	n/a	n/a
4	FOXA1	chr1:227615179-227615400	T-47D	breast:	n/a	n/a
5	FOXA1	chr1:227615064-227615388	T-47D	breast:	n/a	n/a
6	GATA3	chr1:227615048-227615355	T-47D	breast:	n/a	n/a
7	GATA3	chr1:227615056-227615513	T-47D	breast:	n/a	chr1:227615442-227615452
8	GATA3	chr1:227615187-227615363	SH-SY5Y	brain:	n/a	n/a
9	IRF1	chr1:227615269-227615446	K562	blood:	n/a	n/a
10	POLR2A	chr1:227615435-227618163	HUVEC	blood vessel:	n/a	n/a
11	TBP	chr1:227615280-227615407	K562	blood:	n/a	n/a
12	TCF12	chr1:227616062-227617912	A549	lung:	n/a	n/a
13	UBTF	chr1:227615311-227615367	K562	blood:	n/a	n/a
14	ZNF274	chr1:227614804-227615010	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227545250..227546932-chr1:227614922..227616911,2	K562	blood:
2	chr1:227502664..227506000-chr1:227614343..227617571,3	K562	blood:
3	chr1:227605581..227608892-chr1:227610370..227614141,3	K562	blood:
4	chr1:227612197..227614219-chr1:227619414..227621480,2	MCF-7	breast:
5	chr1:227506036..227507932-chr1:227615818..227619997,3	MCF-7	breast:
6	chr1:227611022..227613479-chr1:227613534..227615675,2	K562	blood:
7	chr1:227614393..227617213-chr1:227617551..227619709,2	K562	blood:
8	chr1:227615713..227617312-chr1:227617551..227620408,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242757	TF binding region
ENSG00000242757	chromatin interactions
ENSG00000143776	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534466438	chr1:227614085-227614086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543272857	chr1:227614104-227614105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3000809	chr1:227614107-227614108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571891522	chr1:227614133-227614134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532781396	chr1:227614139-227614140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554382748	chr1:227614154-227614155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142131137	chr1:227614158-227614159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536602768	chr1:227614227-227614228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548303079	chr1:227614309-227614310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569582020	chr1:227614319-227614320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3014300	chr1:227614336-227614337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182175474	chr1:227614345-227614346	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144739786	chr1:227614459-227614460	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534559386	chr1:227614492-227614493	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs556266633	chr1:227614501-227614502	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs187896797	chr1:227614508-227614509	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs199711560	chr1:227614525-227614526	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371140562	chr1:227614539-227614540	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200594618	chr1:227614547-227614548	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369820095	chr1:227614571-227614572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs140487799	chr1:227614600-227614601	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563288741	chr1:227614611-227614612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs576782568	chr1:227614614-227614615	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544107159	chr1:227614697-227614698	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs193061540	chr1:227614723-227614724	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs532735923	chr1:227614725-227614726	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373308853	chr1:227614736-227614737	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs113677445	chr1:227614737-227614738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547676421	chr1:227614744-227614745	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs141957267	chr1:227614748-227614749	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs76998189	chr1:227614749-227614750	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550446522	chr1:227614751-227614752	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs377335207	chr1:227614752-227614753	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530150275	chr1:227614758-227614759	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs35853949	chr1:227614808-227614809	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs548532874	chr1:227614879-227614880	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138144267	chr1:227614888-227614889	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537079203	chr1:227614937-227614938	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs552047352	chr1:227614949-227614950	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570462111	chr1:227614957-227614958	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs534770776	chr1:227615001-227615002	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs564790397	chr1:227615040-227615041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552902949	chr1:227615050-227615051	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs554888409	chr1:227615068-227615069	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183752912	chr1:227615154-227615155	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs74390861	chr1:227615187-227615188	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs535220772	chr1:227615189-227615190	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs557122156	chr1:227615240-227615241	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs575297339	chr1:227615296-227615297	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs149218551	chr1:227615303-227615304	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227610600-227615200	Weak transcription	K562	blood
2	chr1:227612600-227616200	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:227612800-227615200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:227612800-227615200	Weak transcription	HUVEC	blood vessel
5	chr1:227612800-227615400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:227612800-227616000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:227612800-227616400	Weak transcription	Left Ventricle	heart
8	chr1:227613000-227615400	Weak transcription	Brain Angular Gyrus	brain
9	chr1:227613000-227615600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:227613000-227616000	Weak transcription	Brain Substantia Nigra	brain
11	chr1:227613000-227616400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:227614000-227615200	Weak transcription	A549	lung
13	chr1:227615200-227616000	Enhancers	A549	lung
14	chr1:227615200-227616000	Enhancers	HUVEC	blood vessel
15	chr1:227615200-227617200	Enhancers	K562	blood
16	chr1:227615200-227619400	Enhancers	Brain Hippocampus Middle	brain
17	chr1:227615200-227619600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:227615200-227621000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:227615400-227615600	Enhancers	Brain Angular Gyrus	brain
20	chr1:227615400-227619400	Enhancers	Brain Anterior Caudate	brain
21	chr1:227615400-227623400	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:227615600-227616000	Weak transcription	Brain Angular Gyrus	brain
23	chr1:227615600-227617800	Enhancers	Fetal Kidney	kidney
24	chr1:227615600-227621000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:227616000-227616200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:227616000-227617400	Enhancers	Aorta	Aorta
27	chr1:227616000-227617600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:227616000-227617800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:227616000-227618000	Enhancers	Fetal Stomach	stomach
30	chr1:227616000-227618000	Flanking Active TSS	A549	lung
31	chr1:227616000-227618200	Flanking Active TSS	HUVEC	blood vessel
32	chr1:227616000-227618400	Bivalent Enhancer	HepG2	liver
33	chr1:227616000-227618800	Enhancers	Brain Angular Gyrus	brain
34	chr1:227616000-227619200	Enhancers	Brain Substantia Nigra	brain
35	chr1:227616000-227622200	Enhancers	Fetal Muscle Leg	muscle

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