Variant report

Variant	esv2194421
Chromosome Location	chr1:222033947-222034670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 96 )

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	rs538541274	chr1:222033975-222033976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61277365	chr1:222034028-222034029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191205480	chr1:222034061-222034062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542586306	chr1:222034105-222034106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541408320	chr1:222034106-222034107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370988376	chr1:222034158-222034159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202028298	chr1:222034159-222034160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200491663	chr1:222034161-222034162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201620384	chr1:222034162-222034163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202173628	chr1:222034163-222034164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7551475	chr1:222034197-222034198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576468922	chr1:222034216-222034217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573275792	chr1:222034284-222034285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561671981	chr1:222034298-222034299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530708894	chr1:222034303-222034304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550792356	chr1:222034306-222034307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570512573	chr1:222034329-222034330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532640394	chr1:222034332-222034333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565472746	chr1:222034396-222034397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377713253	chr1:222034473-222034474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532897495	chr1:222034511-222034512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541757834	chr1:222034566-222034567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564328383	chr1:222034602-222034603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186309299	chr1:222034625-222034626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222019800-222047600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:222032400-222036600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:222032600-222038600	Weak transcription	HSMM	muscle
4	chr1:222032800-222038000	Weak transcription	NHDF-Ad	bronchial
5	chr1:222032800-222041600	Weak transcription	NHEK	skin
6	chr1:222032800-222041800	Weak transcription	Osteobl	bone
7	chr1:222033000-222038000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:222033000-222038000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:222033200-222038000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:222033200-222041600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:222033400-222039200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:222034600-222034800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:222034600-222035600	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:222034600-222035800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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