Variant report

Variant	esv3331683
Chromosome Location	chr7:79972466-79974564
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	chr7:79971854..79974583-chr7:79981836..79984361,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550107526	chr7:79972470-79972471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573235752	chr7:79972474-79972475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186327535	chr7:79972486-79972487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113735879	chr7:79972569-79972570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190820390	chr7:79972598-79972599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534726808	chr7:79972616-79972617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539097647	chr7:79972651-79972652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554361154	chr7:79972667-79972668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs304741	chr7:79972710-79972711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543031198	chr7:79972729-79972730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557266862	chr7:79972743-79972744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577136102	chr7:79972748-79972749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572256008	chr7:79972776-79972777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143546888	chr7:79972801-79972802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534843428	chr7:79972842-79972843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554898361	chr7:79972843-79972844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559525053	chr7:79972852-79972853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528667886	chr7:79972872-79972873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542355311	chr7:79972975-79972976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562020015	chr7:79972978-79972979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146792860	chr7:79973019-79973020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140702755	chr7:79973026-79973027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377583667	chr7:79973045-79973046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6973740	chr7:79973108-79973109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs304742	chr7:79973167-79973168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11407527	chr7:79973169-79973170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397747153	chr7:79973173-79973174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112823432	chr7:79973174-79973175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540769803	chr7:79973178-79973179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187594480	chr7:79973238-79973239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576784201	chr7:79973260-79973261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534515408	chr7:79973279-79973280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191596981	chr7:79973363-79973364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545509909	chr7:79973450-79973451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115849603	chr7:79973453-79973454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182934379	chr7:79973552-79973553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556560833	chr7:79973596-79973597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576383110	chr7:79973654-79973655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555468123	chr7:79973665-79973666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545849098	chr7:79973771-79973772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187478418	chr7:79973790-79973791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76329640	chr7:79973825-79973826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10227851	chr7:79973826-79973827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562272978	chr7:79973831-79973832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575668093	chr7:79973948-79973949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191937396	chr7:79974000-79974001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573989006	chr7:79974013-79974014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184734054	chr7:79974109-79974110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17153733	chr7:79974111-79974112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565399978	chr7:79974114-79974115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79954200-79975400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:79972800-79973000	Enhancers	Ovary	ovary

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