Variant report

Variant	esv3433778
Chromosome Location	chr1:228862890-228863452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228860906..228863174-chr1:228870066..228872859,2	MCF-7	breast:
2	chr1:228860160..228864408-chr1:228867084..228871463,4	K562	blood:
3	chr1:228645146..228646718-chr1:228862119..228864431,2	MCF-7	breast:
4	chr1:228860160..228864147-chr1:228866037..228871463,5	K562	blood:
5	chr1:228860050..228863898-chr1:228864456..228870040,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116574	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000196890	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182930607	chr1:228862919-228862920	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs147168247	chr1:228862935-228862936	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs187271024	chr1:228862958-228862959	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370179035	chr1:228862962-228862963	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs577017802	chr1:228862984-228862985	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs140364483	chr1:228862996-228862997	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs201850327	chr1:228863014-228863015	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs553222156	chr1:228863023-228863024	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs61825711	chr1:228863034-228863035	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541638849	chr1:228863072-228863073	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs144224782	chr1:228863096-228863097	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs10158991	chr1:228863110-228863111	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544245709	chr1:228863118-228863119	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs564092340	chr1:228863136-228863137	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs533259262	chr1:228863221-228863222	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs560374404	chr1:228863246-228863247	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs566743316	chr1:228863247-228863248	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs371001987	chr1:228863269-228863270	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs139222536	chr1:228863273-228863274	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs149957067	chr1:228863290-228863291	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs191987483	chr1:228863303-228863304	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs538111235	chr1:228863327-228863328	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs145042879	chr1:228863341-228863342	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs570430051	chr1:228863417-228863418	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228858200-228863400	Weak transcription	Pancreas	Pancrea
2	chr1:228858400-228863600	Weak transcription	Placenta	Placenta
3	chr1:228859800-228870400	Weak transcription	Stomach Mucosa	stomach
4	chr1:228863200-228864200	Enhancers	Fetal Lung	lung
5	chr1:228863400-228864000	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links