Variant report

Variant	esv2367547
Chromosome Location	chr1:225344209-225344900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225114949..225117606-chr1:225342545..225344625,2	K562	blood:

Variant related genes	Relation type
ENSG00000185842	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556044552	chr1:225344246-225344247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116321561	chr1:225344259-225344260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111632220	chr1:225344289-225344290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191628219	chr1:225344330-225344331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184054261	chr1:225344356-225344357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370508885	chr1:225344411-225344412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs71170061	chr1:225344412-225344413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75728499	chr1:225344431-225344432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs397983026	chr1:225344434-225344435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539926084	chr1:225344456-225344457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573139216	chr1:225344503-225344504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551547148	chr1:225344562-225344563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540744832	chr1:225344569-225344570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374130930	chr1:225344576-225344577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562134424	chr1:225344585-225344586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574286605	chr1:225344607-225344608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544774419	chr1:225344608-225344609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376542198	chr1:225344652-225344653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6700755	chr1:225344677-225344678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138125018	chr1:225344709-225344710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545358338	chr1:225344842-225344843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560130737	chr1:225344852-225344853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Developmental delay	21147756	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225301800-225355800	Weak transcription	Pancreas	Pancrea
2	chr1:225322000-225356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:225326400-225355800	Weak transcription	Ovary	ovary
4	chr1:225332800-225356000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:225338200-225355600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:225343400-225344400	Enhancers	HUVEC	blood vessel
7	chr1:225343600-225344400	Enhancers	Primary T cells from cord blood	blood
8	chr1:225343800-225344400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:225344000-225344400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:225344000-225356200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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