Variant report

Variant	esv2609252
Chromosome Location	chr7:126128119-126129521
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	chr7:126127310..126130214-chr7:126150191..126152367,2	K562	blood:

Variant related genes	Relation type
ENSG00000227249	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534984394	chr7:126128142-126128143	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556336269	chr7:126128160-126128161	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577858447	chr7:126128181-126128182	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144442512	chr7:126128228-126128229	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185865449	chr7:126128229-126128230	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs57717265	chr7:126128237-126128238	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2157759	chr7:126128247-126128248	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139404465	chr7:126128248-126128249	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188663126	chr7:126128262-126128263	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372679736	chr7:126128263-126128264	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539830180	chr7:126128292-126128293	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75315032	chr7:126128374-126128375	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10258481	chr7:126128399-126128400	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573978969	chr7:126128413-126128414	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181244854	chr7:126128415-126128416	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144122656	chr7:126128423-126128424	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533166691	chr7:126128486-126128487	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112859826	chr7:126128540-126128541	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186021697	chr7:126128556-126128557	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112898720	chr7:126128605-126128606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558703145	chr7:126128692-126128693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146473037	chr7:126128695-126128696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114939038	chr7:126128697-126128698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs77282746	chr7:126128705-126128706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538140292	chr7:126128716-126128717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550063925	chr7:126128744-126128745	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577489057	chr7:126128778-126128779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536666934	chr7:126128845-126128846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs139628701	chr7:126128861-126128862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555080976	chr7:126128879-126128880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554378618	chr7:126128890-126128891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572827425	chr7:126128907-126128908	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533933974	chr7:126128955-126128956	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370050561	chr7:126128963-126128964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142852504	chr7:126128971-126128972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573686726	chr7:126128977-126128978	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs518	chr7:126129104-126129105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556522389	chr7:126129121-126129122	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7456207	chr7:126129122-126129123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76977085	chr7:126129182-126129183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79042622	chr7:126129183-126129184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75454603	chr7:126129184-126129185	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190926912	chr7:126129210-126129211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544863226	chr7:126129217-126129218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs519	chr7:126129250-126129251	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs9886130	chr7:126129269-126129270	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34919773	chr7:126129286-126129287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201122089	chr7:126129384-126129385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201794767	chr7:126129391-126129392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs151041541	chr7:126129408-126129409	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126128000-126128600	Enhancers	Fetal Brain Female	brain

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