Variant report

Variant	esv3341258
Chromosome Location	chr7:84908666-84909814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527301539	chr7:84908674-84908675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140589882	chr7:84908704-84908705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574614674	chr7:84908751-84908752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549656021	chr7:84908768-84908769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73705921	chr7:84908801-84908802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560421267	chr7:84908807-84908808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527475202	chr7:84908900-84908901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375576321	chr7:84908933-84908934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546131460	chr7:84908934-84908935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547070497	chr7:84908938-84908939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550924142	chr7:84908942-84908943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35182753	chr7:84908975-84908976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397975136	chr7:84908978-84908979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201080189	chr7:84908997-84908998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71890156	chr7:84908998-84908999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113671771	chr7:84908999-84909000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551667329	chr7:84909018-84909019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11765225	chr7:84909028-84909029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531743363	chr7:84909034-84909035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549872895	chr7:84909064-84909065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560858725	chr7:84909082-84909083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73192484	chr7:84909097-84909098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139423327	chr7:84909103-84909104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73192486	chr7:84909106-84909107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547669544	chr7:84909163-84909164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373844371	chr7:84909166-84909167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71082193	chr7:84909187-84909188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3079627	chr7:84909188-84909189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199935563	chr7:84909189-84909190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201101452	chr7:84909193-84909194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1540849	chr7:84909195-84909196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71082194	chr7:84909212-84909213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543349413	chr7:84909226-84909227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544323770	chr7:84909246-84909247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539597360	chr7:84909291-84909292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558240208	chr7:84909345-84909346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79026641	chr7:84909412-84909413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537866385	chr7:84909429-84909430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555912688	chr7:84909434-84909435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574356720	chr7:84909464-84909465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542187426	chr7:84909494-84909495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554107249	chr7:84909506-84909507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150946711	chr7:84909556-84909557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182605470	chr7:84909573-84909574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564619947	chr7:84909599-84909600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576431420	chr7:84909617-84909618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543879009	chr7:84909667-84909668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561974875	chr7:84909669-84909670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530074846	chr7:84909691-84909692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371810758	chr7:84909749-84909750	Weak transcription Enhancers	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84906200-84916000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:84909400-84910200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:84909800-84910200	Enhancers	Fetal Heart	heart

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