Variant report

Variant	esv1009077
Chromosome Location	chr1:222176979-222180320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539325049	chr1:222176988-222176989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572863452	chr1:222177017-222177018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554522092	chr1:222177027-222177028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572650930	chr1:222177110-222177111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542857200	chr1:222177118-222177119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146191700	chr1:222177135-222177136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184806504	chr1:222177143-222177144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561695391	chr1:222177242-222177243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573644330	chr1:222177271-222177272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544340729	chr1:222177277-222177278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562122710	chr1:222177281-222177282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140889563	chr1:222177365-222177366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551224012	chr1:222177383-222177384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560036008	chr1:222177392-222177393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550646186	chr1:222177452-222177453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2970199	chr1:222177454-222177455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs190085856	chr1:222177532-222177533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181502642	chr1:222177552-222177553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186472021	chr1:222177576-222177577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552801974	chr1:222177594-222177595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5781256	chr1:222177595-222177596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397863117	chr1:222177598-222177599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571635119	chr1:222177605-222177606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539057785	chr1:222177628-222177629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554460890	chr1:222177657-222177658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566253096	chr1:222177713-222177714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115984622	chr1:222177738-222177739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17441981	chr1:222177766-222177767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576603845	chr1:222177782-222177783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78670544	chr1:222177788-222177789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371560073	chr1:222177859-222177860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555852616	chr1:222177863-222177864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548368882	chr1:222177894-222177895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113583608	chr1:222177917-222177918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546740574	chr1:222177980-222177981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189290775	chr1:222178032-222178033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566061318	chr1:222178082-222178083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544606213	chr1:222178110-222178111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367799442	chr1:222178144-222178145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528614412	chr1:222178145-222178146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548259526	chr1:222178172-222178173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17011190	chr1:222178182-222178183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181891996	chr1:222178196-222178197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542938582	chr1:222178216-222178217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370818063	chr1:222178227-222178228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531550705	chr1:222178246-222178247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116627790	chr1:222178330-222178331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537042391	chr1:222178333-222178334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571773694	chr1:222178337-222178338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563518732	chr1:222178340-222178341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Acute lymphoblastic leukemia	22237106	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
Congenital diaphragmatic hernia	21085971	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
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222169200-222184000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:222180000-222181000	Enhancers	Liver	Liver
3	chr1:222180000-222181400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:222180200-222180400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:222180200-222180400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:222180200-222180400	Enhancers	HSMM	muscle

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