Variant report

Variant	esv3324819
Chromosome Location	chr1:180183629-180184677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180183081..180185563-chr1:180187908..180189784,2	K562	blood:
2	chr1:180183763..180186747-chr1:180199591..180203355,3	MCF-7	breast:
3	chr1:180179618..180183395-chr1:180184350..180187119,5	K562	blood:
4	chr1:180183289..180186252-chr1:180197125..180198628,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542974472	chr1:180183662-180183663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10913950	chr1:180183676-180183677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147419361	chr1:180183677-180183678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545189694	chr1:180183792-180183793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564838418	chr1:180183873-180183874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527333833	chr1:180183875-180183876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556655482	chr1:180183883-180183884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568850780	chr1:180183902-180183903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547167783	chr1:180183952-180183953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560973797	chr1:180183955-180183956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539123027	chr1:180183990-180183991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557839783	chr1:180184009-180184010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573074026	chr1:180184013-180184014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534018250	chr1:180184036-180184037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61809100	chr1:180184073-180184074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61809101	chr1:180184079-180184080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61809102	chr1:180184093-180184094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61809103	chr1:180184097-180184098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61809104	chr1:180184103-180184104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61809105	chr1:180184104-180184105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61809106	chr1:180184111-180184112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56000377	chr1:180184130-180184131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs55793551	chr1:180184146-180184147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201635154	chr1:180184149-180184150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202178842	chr1:180184150-180184151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73042408	chr1:180184188-180184189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139085968	chr1:180184209-180184210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113900592	chr1:180184237-180184238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199900406	chr1:180184252-180184253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549195431	chr1:180184311-180184312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571748459	chr1:180184350-180184351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142308541	chr1:180184401-180184402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184164491	chr1:180184466-180184467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12568364	chr1:180184469-180184470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10913951	chr1:180184479-180184480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116052619	chr1:180184567-180184568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544870142	chr1:180184583-180184584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564549434	chr1:180184586-180184587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4652485	chr1:180184644-180184645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79709603	chr1:180184664-180184665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568715462	chr1:180184676-180184677	Weak transcription Enhancers	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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180164800-180187800	Weak transcription	Right Atrium	heart
2	chr1:180183200-180184200	Weak transcription	HSMMtube	muscle
3	chr1:180183200-180184400	Enhancers	Dnd41	blood
4	chr1:180183200-180184600	Weak transcription	NHLF	lung
5	chr1:180183200-180187600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:180183400-180184400	Weak transcription	Fetal Lung	lung
7	chr1:180183400-180186000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:180184000-180184400	Weak transcription	Spleen	Spleen
9	chr1:180184400-180186600	Enhancers	Fetal Lung	lung

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