Variant report

Variant	esv2762653
Chromosome Location	chr7:13525222-13540250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369680935	chr7:13529046-13529047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs568451500	chr7:13529069-13529070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs539870463	chr7:13529080-13529081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs10807765	chr7:13529096-13529097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs554466771	chr7:13529119-13529120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs532313938	chr7:13529120-13529121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545694710	chr7:13529156-13529157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540057718	chr7:13529175-13529176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs556283534	chr7:13529185-13529186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs576160869	chr7:13529205-13529206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs11761701	chr7:13529206-13529207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs541161642	chr7:13529230-13529231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs555369733	chr7:13529243-13529244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs187859907	chr7:13529247-13529248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs191091079	chr7:13529248-13529249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs564440322	chr7:13529275-13529276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs577754286	chr7:13529276-13529277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs543261079	chr7:13529293-13529294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182386074	chr7:13529318-13529319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs531652433	chr7:13529409-13529410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373131971	chr7:13529414-13529415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs11973042	chr7:13529463-13529464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs548635486	chr7:13529468-13529469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs116313391	chr7:13529469-13529470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187764931	chr7:13529527-13529528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs148535726	chr7:13529561-13529562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569303574	chr7:13529562-13529563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113169617	chr7:13535816-13535817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144414637	chr7:13535824-13535825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369686525	chr7:13535828-13535829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563887812	chr7:13535829-13535830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529500680	chr7:13535856-13535857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549055565	chr7:13535907-13535908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559232210	chr7:13535918-13535919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528173318	chr7:13535920-13535921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559646865	chr7:13535936-13535937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191808683	chr7:13535949-13535950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113584457	chr7:13535952-13535953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112853226	chr7:13535983-13535984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536918196	chr7:13536000-13536001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369739901	chr7:13536010-13536011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71033906	chr7:13536011-13536012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs398003714	chr7:13536039-13536040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74547811	chr7:13536040-13536041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372596744	chr7:13536042-13536043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13312470	chr7:13536043-13536044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201488507	chr7:13536044-13536045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550629015	chr7:13536098-13536099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374971198	chr7:13536151-13536152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536096371	chr7:13536171-13536172	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13529000-13529600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:13535800-13537400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:13536000-13537200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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