Variant report

Variant	esv3420698
Chromosome Location	chr1:194646404-194649027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:194606466..194608189-chr1:194645387..194647364,2	K562	blood:
2	chr1:194645953..194649314-chr1:194649785..194652576,3	K562	blood:
3	chr1:194647996..194650865-chr1:194651432..194653062,2	K562	blood:
4	chr1:194647825..194650352-chr1:194653770..194656490,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113752541	chr1:194648057-194648058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144348872	chr1:194648085-194648086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563939671	chr1:194648088-194648089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71642995	chr1:194648095-194648096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564542001	chr1:194648147-194648148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531358662	chr1:194648173-194648174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4253903	chr1:194648188-194648189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571265806	chr1:194648195-194648196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148777638	chr1:194648262-194648263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547407062	chr1:194648298-194648299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563687022	chr1:194648316-194648317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377640735	chr1:194648332-194648333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370682442	chr1:194648360-194648361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536188621	chr1:194648378-194648379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554458028	chr1:194648388-194648389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149621331	chr1:194648400-194648401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185880816	chr1:194648419-194648420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537048946	chr1:194648468-194648469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142394516	chr1:194648470-194648471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577304906	chr1:194648507-194648508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373765380	chr1:194648534-194648535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541509464	chr1:194648586-194648587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4255368	chr1:194648612-194648613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574958314	chr1:194648614-194648615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542415922	chr1:194648616-194648617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76702067	chr1:194648634-194648635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563978187	chr1:194648690-194648691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531191195	chr1:194648769-194648770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543486649	chr1:194648859-194648860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565940970	chr1:194648869-194648870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546020821	chr1:194648898-194648899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563817193	chr1:194648938-194648939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189999782	chr1:194648975-194648976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536127085	chr1:194649000-194649001	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	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
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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194648000-194649200	Enhancers	Fetal Lung	lung
2	chr1:194648800-194649200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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