Variant report

Variant	esv3371883
Chromosome Location	chr7:121842116-121843314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554809593	chr7:121842260-121842261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112042778	chr7:121842334-121842335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538536337	chr7:121842353-121842354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192973342	chr7:121842399-121842400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370818603	chr7:121842531-121842532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574896662	chr7:121842534-121842535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577950104	chr7:121842573-121842574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201892772	chr7:121842603-121842604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370085953	chr7:121842604-121842605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376293967	chr7:121842638-121842639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs67468440	chr7:121842656-121842657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3069261	chr7:121842659-121842660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551260562	chr7:121842660-121842661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566472008	chr7:121842662-121842663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73440147	chr7:121842722-121842723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557444669	chr7:121842728-121842729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139831609	chr7:121842744-121842745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543177605	chr7:121842747-121842748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574517285	chr7:121842832-121842833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs184112026	chr7:121842849-121842850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs528729913	chr7:121842884-121842885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545366568	chr7:121842927-121842928	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111508356	chr7:121842928-121842929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565579805	chr7:121842957-121842958	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530375692	chr7:121842958-121842959	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs540576277	chr7:121842980-121842981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs553984652	chr7:121843011-121843012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143143780	chr7:121843019-121843020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189249624	chr7:121843048-121843049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181439414	chr7:121843097-121843098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577258813	chr7:121843141-121843142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184941661	chr7:121843154-121843155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs118068645	chr7:121843188-121843189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566548176	chr7:121843189-121843190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576117394	chr7:121843193-121843194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538868624	chr7:121843282-121843283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121839600-121845800	Weak transcription	Fetal Heart	heart
2	chr7:121842800-121843000	ZNF genes & repeats	Left Ventricle	heart
3	chr7:121843000-121844400	Weak transcription	Left Ventricle	heart

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