Variant report

Variant	esv3379253
Chromosome Location	chr7:80557666-80559764
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	chr7:80557532..80559253-chr7:81077804..81080710,2	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187898808	chr7:80557722-80557723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192477404	chr7:80557778-80557779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542133697	chr7:80557807-80557808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182334517	chr7:80557840-80557841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114251050	chr7:80557881-80557882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543381046	chr7:80557890-80557891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563454922	chr7:80557910-80557911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73376644	chr7:80557932-80557933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536900348	chr7:80557957-80557958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116221965	chr7:80558000-80558001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79851860	chr7:80558089-80558090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376073993	chr7:80558177-80558178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186493453	chr7:80558178-80558179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7807118	chr7:80558219-80558220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7790902	chr7:80558221-80558222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs150406723	chr7:80558222-80558223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190040359	chr7:80558229-80558230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61003790	chr7:80558235-80558236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572732201	chr7:80558237-80558238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541444924	chr7:80558239-80558240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7794830	chr7:80558275-80558276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12670119	chr7:80558304-80558305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs193186728	chr7:80558306-80558307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11766763	chr7:80558320-80558321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555652790	chr7:80558369-80558370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373572780	chr7:80558432-80558433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374961640	chr7:80558433-80558434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184444535	chr7:80558439-80558440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554897456	chr7:80558449-80558450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117930981	chr7:80558504-80558505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150144690	chr7:80558525-80558526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545138871	chr7:80558549-80558550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543918428	chr7:80558567-80558568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71079202	chr7:80558576-80558577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58989351	chr7:80558587-80558588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369413995	chr7:80558588-80558589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71083003	chr7:80558608-80558609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4998990	chr7:80558611-80558612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs917192	chr7:80558629-80558630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs61614893	chr7:80558631-80558632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559554764	chr7:80558698-80558699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573407701	chr7:80558704-80558705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181904873	chr7:80558708-80558709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534642831	chr7:80558733-80558734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183837663	chr7:80558740-80558741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112657902	chr7:80558741-80558742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551291766	chr7:80558769-80558770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567749359	chr7:80558797-80558798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200703948	chr7:80558816-80558817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111591396	chr7:80558829-80558830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80548400-80570000	Weak transcription	Gastric	stomach
2	chr7:80549200-80565000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:80553800-80559000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:80556800-80558600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:80558600-80559600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:80558600-80559800	Enhancers	HMEC	breast
7	chr7:80558800-80559600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:80558800-80559600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:80558800-80559600	Enhancers	NHEK	skin
10	chr7:80559000-80559400	Enhancers	NHDF-Ad	bronchial
11	chr7:80559000-80559400	Enhancers	NHLF	lung
12	chr7:80559000-80559600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:80559000-80559600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:80559000-80559600	Enhancers	NH-A	brain
15	chr7:80559200-80559400	Enhancers	Osteobl	bone
16	chr7:80559400-80560600	Weak transcription	NHLF	lung
17	chr7:80559400-80561800	Weak transcription	Osteobl	bone
18	chr7:80559600-80561000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:80559600-80562000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:80559600-80562000	Weak transcription	NH-A	brain
21	chr7:80559600-80562000	Weak transcription	NHEK	skin
22	chr7:80559600-80563400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:80559600-80569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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