Variant report

Variant	esv3419156
Chromosome Location	chr1:242491592-242491805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143058247	chr1:242491596-242491597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200987870	chr1:242491605-242491606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202239613	chr1:242491606-242491607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200097487	chr1:242491610-242491611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201008982	chr1:242491612-242491613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201949319	chr1:242491617-242491618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549960929	chr1:242491641-242491642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145323008	chr1:242491651-242491652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116804323	chr1:242491653-242491654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576174793	chr1:242491661-242491662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368086099	chr1:242491664-242491665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529437015	chr1:242491669-242491670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138052374	chr1:242491671-242491672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549046363	chr1:242491681-242491682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565772304	chr1:242491684-242491685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149083137	chr1:242491685-242491686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114863932	chr1:242491688-242491689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571913055	chr1:242491689-242491690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543528752	chr1:242491695-242491696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28523832	chr1:242491701-242491702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28393801	chr1:242491702-242491703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529805510	chr1:242491703-242491704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6702552	chr1:242491709-242491710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548217610	chr1:242491723-242491724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186581447	chr1:242491734-242491735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376777044	chr1:242491736-242491737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6662447	chr1:242491752-242491753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564014329	chr1:242491769-242491770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555484157	chr1:242491777-242491778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572135083	chr1:242491788-242491789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541047102	chr1:242491805-242491806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242485600-242494400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:242485600-242555400	Weak transcription	Aorta	Aorta
3	chr1:242488200-242508200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:242488400-242496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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