Variant report

Variant	esv3448608
Chromosome Location	chr7:108561050-108585761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs848339	chr7:108561079-108561080	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563299984	chr7:108561080-108561081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7457482	chr7:108561081-108561082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs115395152	chr7:108561102-108561103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs2189042	chr7:108561131-108561132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs376996956	chr7:108561134-108561135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs2189041	chr7:108561152-108561153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs150748590	chr7:108561209-108561210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs371366405	chr7:108561243-108561244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs529040616	chr7:108561253-108561254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186103974	chr7:108561314-108561315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs76283654	chr7:108561345-108561346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs534855786	chr7:108583011-108583012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551206470	chr7:108583034-108583035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs111937674	chr7:108583069-108583070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112212339	chr7:108583070-108583071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138582009	chr7:108583089-108583090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs576392679	chr7:108583090-108583091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs545661242	chr7:108583118-108583119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565484579	chr7:108583127-108583128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs180958394	chr7:108583162-108583163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs541233662	chr7:108583167-108583168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560601524	chr7:108583195-108583196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs529757083	chr7:108583199-108583200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549647315	chr7:108583202-108583203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs185416012	chr7:108583238-108583239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs116680767	chr7:108583243-108583244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565990191	chr7:108583244-108583245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs534763649	chr7:108583249-108583250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs144072105	chr7:108583256-108583257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188620134	chr7:108583257-108583258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536733477	chr7:108583261-108583262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs556409561	chr7:108583294-108583295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs367671662	chr7:108583311-108583312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs576381822	chr7:108583317-108583318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs538695058	chr7:108583322-108583323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs181473505	chr7:108583350-108583351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186998170	chr7:108583362-108583363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541197376	chr7:108583374-108583375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs561132936	chr7:108583376-108583377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377638116	chr7:108583385-108583386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs531841533	chr7:108583388-108583389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191745943	chr7:108583391-108583392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs113883882	chr7:108583395-108583396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563282882	chr7:108583400-108583401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs550335256	chr7:108583404-108583405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568813262	chr7:108583414-108583415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536153904	chr7:108583423-108583424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs532091988	chr7:108583434-108583435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551889247	chr7:108583461-108583462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108560800-108561400	ZNF genes & repeats	Dnd41	blood
2	chr7:108583000-108583600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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