Variant report

Variant	esv3403557
Chromosome Location	chr7:84779316-84780414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145086263	chr7:84779336-84779337	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564158492	chr7:84779339-84779340	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552819694	chr7:84779357-84779358	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571028705	chr7:84779391-84779392	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114121269	chr7:84779407-84779408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532433124	chr7:84779432-84779433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577626196	chr7:84779450-84779451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556739251	chr7:84779465-84779466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13242385	chr7:84779609-84779610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374949884	chr7:84779662-84779663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149054742	chr7:84779674-84779675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3078412	chr7:84779684-84779685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199781825	chr7:84779720-84779721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575296323	chr7:84779733-84779734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373484834	chr7:84779803-84779804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs36056967	chr7:84779804-84779805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535898053	chr7:84779815-84779816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397724009	chr7:84779820-84779821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554128748	chr7:84779845-84779846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190405620	chr7:84779855-84779856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540111470	chr7:84779870-84779871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564743418	chr7:84780003-84780004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552727103	chr7:84780036-84780037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67300322	chr7:84780112-84780113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181684964	chr7:84780126-84780127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368436049	chr7:84780131-84780132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548634176	chr7:84780164-84780165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185594085	chr7:84780248-84780249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs67407646	chr7:84780409-84780410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84766200-84780000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:84779000-84779400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:84779000-84779400	Strong transcription	Fetal Lung	lung
4	chr7:84779200-84779600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:84779400-84782200	Weak transcription	Fetal Lung	lung
6	chr7:84780000-84780200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:84780000-84780200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:84780000-84780400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:84780000-84780400	Enhancers	NHEK	skin
10	chr7:84780200-84783400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:84780400-84783200	Weak transcription	NHEK	skin

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