Variant report

Variant	esv3381126
Chromosome Location	chr7:125460406-125460769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:125458557..125461124-chr7:125464853..125467696,3	K562	blood:
2	chr7:125459178..125461778-chr7:125471242..125473065,2	K562	blood:
3	chr7:125458557..125461124-chr7:125464853..125467696,2	K562	blood:
4	chr3:189159456..189161667-chr7:125457789..125460538,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180964716	chr7:125460419-125460420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531263300	chr7:125460435-125460436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548179950	chr7:125460449-125460450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143351979	chr7:125460452-125460453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199656970	chr7:125460495-125460496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71576244	chr7:125460501-125460502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543237804	chr7:125460505-125460506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150488277	chr7:125460510-125460511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190525441	chr7:125460517-125460518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375776504	chr7:125460541-125460542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71834731	chr7:125460551-125460552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71175598	chr7:125460558-125460559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201364948	chr7:125460567-125460568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374943005	chr7:125460568-125460569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532003628	chr7:125460570-125460571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143556325	chr7:125460571-125460572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13228819	chr7:125460575-125460576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148827584	chr7:125460585-125460586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149390625	chr7:125460591-125460592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199592136	chr7:125460595-125460596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150700638	chr7:125460603-125460604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139563302	chr7:125460607-125460608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7458938	chr7:125460648-125460649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562102513	chr7:125460708-125460709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555258463	chr7:125460768-125460769	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Epilepsy	21635232	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	20858243	CNVD
Autism	20808228	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	chr7:125460200-125460800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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