Variant report

Variant	esv3476676
Chromosome Location	chr7:119153762-119162624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:81998528..81999232-chr7:119153061..119154054,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 82 )

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	rs571361963	chr7:119154438-119154439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554728043	chr7:119154452-119154453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535320977	chr7:119154455-119154456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540711586	chr7:119154476-119154477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560574683	chr7:119154524-119154525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577261101	chr7:119154533-119154534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546239465	chr7:119154551-119154552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562908120	chr7:119154565-119154566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532013623	chr7:119154600-119154601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs66633273	chr7:119154630-119154631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7785413	chr7:119154756-119154757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6972177	chr7:119154860-119154861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34821393	chr7:119154868-119154869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182878385	chr7:119154908-119154909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187396215	chr7:119154939-119154940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138644516	chr7:119154946-119154947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538214105	chr7:119154977-119154978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551739494	chr7:119154981-119154982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568541066	chr7:119154997-119154998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538138720	chr7:119154998-119154999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554606837	chr7:119155016-119155017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574532613	chr7:119155021-119155022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533748742	chr7:119155090-119155091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554277036	chr7:119155103-119155104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6952711	chr7:119155121-119155122	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546349996	chr7:119155193-119155194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562870160	chr7:119155199-119155200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375448438	chr7:119155224-119155225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77623056	chr7:119155240-119155241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566531461	chr7:119155256-119155257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77991393	chr7:119155257-119155258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527860214	chr7:119155307-119155308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541242019	chr7:119155323-119155324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564374490	chr7:119155338-119155339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs118137281	chr7:119155343-119155344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116989438	chr7:119155374-119155375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568824292	chr7:119155427-119155428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531216225	chr7:119155491-119155492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183340206	chr7:119155492-119155493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568283422	chr7:119155494-119155495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575719753	chr7:119155523-119155524	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119154400-119155600	Enhancers	Liver	Liver

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