Variant report

Variant	esv3419550
Chromosome Location	chr1:190333879-190335977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180856479	chr1:190335213-190335214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs34319837	chr1:190335239-190335240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs79972032	chr1:190335240-190335241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs116177340	chr1:190335321-190335322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs186503213	chr1:190335425-190335426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs1148610	chr1:190335428-190335429	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536471321	chr1:190335475-190335476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs539377435	chr1:190335486-190335487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs553118980	chr1:190335498-190335499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs573088783	chr1:190335525-190335526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548437364	chr1:190335567-190335568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545128217	chr1:190335584-190335585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191346540	chr1:190335589-190335590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554884305	chr1:190335629-190335630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs542708659	chr1:190335723-190335724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563619390	chr1:190335732-190335733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs560877027	chr1:190335743-190335744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs576060400	chr1:190335746-190335747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs199678964	chr1:190335756-190335757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529139162	chr1:190335761-190335762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12129425	chr1:190335763-190335764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs549281230	chr1:190335767-190335768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559614070	chr1:190335771-190335772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543400287	chr1:190335863-190335864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs528290878	chr1:190335864-190335865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs376552633	chr1:190335873-190335874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs571215008	chr1:190335880-190335881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs183533617	chr1:190335889-190335890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557437643	chr1:190335920-190335921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs576544239	chr1:190335946-190335947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190335200-190337400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:190335800-190337200	ZNF genes & repeats	Fetal Intestine Small	intestine

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