Variant report

Variant	esv1807249
Chromosome Location	chr7:109441465-109477177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:54797543..54800025-chr7:109465690..109468488,2	MCF-7	breast:
2	chr7:109452833..109454349-chr7:109467899..109470407,2	K562	blood:
3	chr12:95693010..95693732-chr7:109461830..109462660,2	MCF-7	breast:
4	chr7:109452833..109454349-chr7:109467899..109470407,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187505735	chr7:109463005-109463006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527790731	chr7:109463059-109463060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145271136	chr7:109463071-109463072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149170554	chr7:109463105-109463106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569705805	chr7:109463133-109463134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143272142	chr7:109463153-109463154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138124962	chr7:109463165-109463166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1464771	chr7:109463186-109463187	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557209106	chr7:109463190-109463191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570700435	chr7:109463199-109463200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539416219	chr7:109463266-109463267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115193919	chr7:109463279-109463280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191087317	chr7:109463287-109463288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535191327	chr7:109463294-109463295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555069793	chr7:109463295-109463296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182805029	chr7:109463301-109463302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543698724	chr7:109463303-109463304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371118258	chr7:109463304-109463305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3114754	chr7:109463322-109463323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187185873	chr7:109463330-109463331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546134981	chr7:109463399-109463400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572158345	chr7:109463405-109463406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35830814	chr7:109463408-109463409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368280266	chr7:109463499-109463500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534783981	chr7:109463524-109463525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142122847	chr7:109463534-109463535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3114753	chr7:109463560-109463561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs75296127	chr7:109463567-109463568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192145532	chr7:109463573-109463574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113983454	chr7:109465626-109465627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376694101	chr7:109465637-109465638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs138921188	chr7:109465647-109465648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs190566596	chr7:109465675-109465676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531361989	chr7:109465698-109465699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs551171378	chr7:109465720-109465721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs536583005	chr7:109465729-109465730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs77256081	chr7:109465747-109465748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs74905685	chr7:109465761-109465762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553610306	chr7:109465764-109465765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs181989454	chr7:109465829-109465830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141169853	chr7:109465901-109465902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs555135943	chr7:109465904-109465905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555771344	chr7:109465921-109465922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs187409736	chr7:109465977-109465978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs147279569	chr7:109465980-109465981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544633823	chr7:109466065-109466066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs573406124	chr7:109466080-109466081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs557970862	chr7:109466108-109466109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577756556	chr7:109466131-109466132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190030278	chr7:109466134-109466135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109463000-109463600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:109463200-109463600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:109465600-109466800	ZNF genes & repeats	Dnd41	blood
4	chr7:109466800-109467000	Enhancers	Dnd41	blood
5	chr7:109474200-109474400	Enhancers	Pancreatic Islets	Pancreatic Islet

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