Variant report

Variant	esv3419827
Chromosome Location	chr7:68923616-68925114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180712386	chr7:68923690-68923691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561661195	chr7:68923832-68923833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13231885	chr7:68923834-68923835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200790235	chr7:68923835-68923836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189677618	chr7:68923836-68923837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556418675	chr7:68923855-68923856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371827539	chr7:68923872-68923873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200415704	chr7:68923873-68923874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537592775	chr7:68923875-68923876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372832989	chr7:68923893-68923894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201403360	chr7:68923895-68923896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200023919	chr7:68923905-68923906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35799104	chr7:68923906-68923907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201335212	chr7:68923921-68923922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576276740	chr7:68923925-68923926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535645191	chr7:68923943-68923944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373949816	chr7:68923945-68923946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181765689	chr7:68923972-68923973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562632598	chr7:68923973-68923974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376006236	chr7:68923985-68923986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370051252	chr7:68923992-68923993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371482850	chr7:68923994-68923995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577405340	chr7:68923996-68923997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546351985	chr7:68924006-68924007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375839696	chr7:68924012-68924013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369343128	chr7:68924022-68924023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111271837	chr7:68924024-68924025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573126658	chr7:68924034-68924035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542222801	chr7:68924040-68924041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560984506	chr7:68924043-68924044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529942157	chr7:68924044-68924045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543211685	chr7:68924046-68924047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372708487	chr7:68924048-68924049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563184880	chr7:68924050-68924051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187146230	chr7:68924074-68924075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376226085	chr7:68924078-68924079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191574770	chr7:68924088-68924089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199905740	chr7:68924094-68924095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183388549	chr7:68924102-68924103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186201051	chr7:68924106-68924107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548167748	chr7:68924116-68924117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189774010	chr7:68924126-68924127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182111923	chr7:68924132-68924133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187044056	chr7:68924136-68924137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555498002	chr7:68924140-68924141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201031813	chr7:68924152-68924153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571082850	chr7:68924166-68924167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192992545	chr7:68924174-68924175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369447072	chr7:68924176-68924177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369655179	chr7:68924195-68924196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19404257	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	22102821	CNVD
Glioma	20126413	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:68914000-68925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:68922200-68923800	Enhancers	Fetal Muscle Leg	muscle
3	chr7:68922400-68923800	Enhancers	Fetal Muscle Trunk	muscle
4	chr7:68922600-68923800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:68923000-68923800	Enhancers	Ovary	ovary
6	chr7:68923000-68923800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr7:68923400-68923800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:68923400-68934400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:68923600-68923800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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