Variant report

Variant	esv1830131
Chromosome Location	chr7:56743579-56754086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566994240	chr7:56752000-56752001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528590946	chr7:56752032-56752033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115501943	chr7:56752036-56752037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs137985532	chr7:56752054-56752055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187090105	chr7:56752058-56752059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs28404741	chr7:56752129-56752130	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189920076	chr7:56752130-56752131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs182912587	chr7:56752173-56752174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs554283742	chr7:56752182-56752183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs117335451	chr7:56752200-56752201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539955895	chr7:56752216-56752217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558328403	chr7:56752219-56752220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576666883	chr7:56752283-56752284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564513994	chr7:56752327-56752328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs7808075	chr7:56752341-56752342	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370527549	chr7:56752353-56752354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs562470352	chr7:56752361-56752362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530755602	chr7:56752364-56752365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542971166	chr7:56752401-56752402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs532665893	chr7:56752402-56752403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs78146930	chr7:56752416-56752417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs62459516	chr7:56752418-56752419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs561132769	chr7:56752451-56752452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs149477394	chr7:56752466-56752467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548874294	chr7:56752523-56752524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs546820728	chr7:56752561-56752562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7789952	chr7:56752577-56752578	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560354424	chr7:56752580-56752581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs7812281	chr7:56752598-56752599	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187334133	chr7:56752690-56752691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148243062	chr7:56752691-56752692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536554077	chr7:56752742-56752743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs199687754	chr7:56752789-56752790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs192682142	chr7:56752861-56752862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs207467930	chr7:56752892-56752893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs562844068	chr7:56752930-56752931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs566393007	chr7:56752972-56752973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533875013	chr7:56752977-56752978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs1828795	chr7:56753026-56753027	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576606541	chr7:56753027-56753028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs117687496	chr7:56753046-56753047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs555952680	chr7:56753076-56753077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs73349362	chr7:56753083-56753084	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs541758826	chr7:56753096-56753097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs377315728	chr7:56753100-56753101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs397970784	chr7:56753107-56753108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368686270	chr7:56753108-56753109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs5010186	chr7:56753112-56753113	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532765691	chr7:56753125-56753126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs528513280	chr7:56753127-56753128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56752000-56756400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:56752400-56754200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:56752600-56754400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr7:56753000-56754400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr7:56753400-56755600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr7:56753600-56754200	ZNF genes & repeats	Liver	Liver

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