Variant report

Variant	esv3520606
Chromosome Location	chr7:80126797-80127103
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	chr7:80125854..80128249-chr7:80143744..80146199,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571184165	chr7:80126809-80126810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73369078	chr7:80126838-80126839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147184321	chr7:80126848-80126849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139989846	chr7:80126850-80126851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181083048	chr7:80126854-80126855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555578739	chr7:80126867-80126868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575850559	chr7:80126868-80126869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544806132	chr7:80126869-80126870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145404009	chr7:80126874-80126875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147693415	chr7:80126875-80126876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140754706	chr7:80126876-80126877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149767839	chr7:80126877-80126878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528879253	chr7:80126879-80126880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145881111	chr7:80126882-80126883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184407427	chr7:80126883-80126884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369088001	chr7:80126888-80126889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182153439	chr7:80126889-80126890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562982312	chr7:80126890-80126891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187630320	chr7:80126891-80126892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551131350	chr7:80126893-80126894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532071129	chr7:80126897-80126898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200599931	chr7:80126901-80126902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143772308	chr7:80126902-80126903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146594521	chr7:80126904-80126905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140906483	chr7:80126905-80126906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191955587	chr7:80126907-80126908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527842980	chr7:80126911-80126912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535473511	chr7:80126914-80126915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55772109	chr7:80126915-80126916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373726409	chr7:80126916-80126917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11977577	chr7:80126918-80126919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138580777	chr7:80126919-80126920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538365038	chr7:80126921-80126922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536972942	chr7:80126923-80126924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550183447	chr7:80126925-80126926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11977579	chr7:80126932-80126933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180970418	chr7:80126933-80126934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578224184	chr7:80126935-80126936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570104462	chr7:80126939-80126940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539118029	chr7:80126944-80126945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369368852	chr7:80126946-80126947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141167141	chr7:80126947-80126948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62461535	chr7:80126958-80126959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138098052	chr7:80126960-80126961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185249294	chr7:80126961-80126962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542235397	chr7:80126965-80126966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562164496	chr7:80126966-80126967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531269799	chr7:80126973-80126974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544710593	chr7:80126974-80126975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201915437	chr7:80126979-80126980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80113000-80127800	Weak transcription	Hela-S3	cervix
2	chr7:80118600-80127400	Weak transcription	NHEK	skin
3	chr7:80120600-80128000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:80121400-80128400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:80121400-80128400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:80123000-80127400	Weak transcription	NHDF-Ad	bronchial
7	chr7:80125600-80127400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:80125600-80128400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:80125800-80128200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:80126000-80129800	Enhancers	Osteobl	bone
11	chr7:80126000-80130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:80126200-80127400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:80126200-80127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:80126200-80130000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:80126200-80130000	Enhancers	NHLF	lung
16	chr7:80126200-80130400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:80126400-80127600	Weak transcription	A549	lung
18	chr7:80126400-80128200	Enhancers	HSMMtube	muscle
19	chr7:80126600-80126800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:80126600-80126800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:80126600-80127200	Weak transcription	NH-A	brain
22	chr7:80126600-80127400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:80126600-80129600	Enhancers	HSMM	muscle
24	chr7:80126800-80127400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:80126800-80128000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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